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  • April 17, 2015
  • 04:38 AM
  • 119 views

Rhabdomyomas: an additional BHD hamartoma phenotype?

by Danielle Stevenson in BHD Research Blog

Hamartomas are benign, focal malformations formed by an excess of normal tissue growing in a disorganised fashion. Several hamartoma syndromes have been linked to aberrant mTOR signalling including BHD and Tuberous Sclerosis Complex (TSC). In addition to the predisposition of BHD patients to develop hair follicle hamartomas or fibrofolliculomas (Birt et al., 1977), Fuyura et al., (2012) propose that the pulmonary cysts in BHD patients are hamartoma-like cystic alveolar formations. The benign nature of these BHD growth phenotypes, in comparison to the potentially malignant growth of BHD renal cell carcinomas, shows that folliculin (FLCN) haploinsufficiency gives a less severe pathology than FLCN loss-of-function.

A recently published study from Bondavalli et al., (2015) was the first report of a cardiac rhabdomyoma (hamartoma) in an infant carrying a FLCN mutation. Cardiac rhabdoyomas are the most common cardiac tumour in children and can be sporadic or syndromic. Syndromic cardiac rhabdomyomas are associated with TSC and mutations in the TSC1 and TSC2 genes, however no such mutations were found in the infant.... Read more »

Bondavalli D, White SM, Steer A, Pflaumer A, & Winship I. (2015) Is cardiac rhabdomyoma a feature of Birt Hogg Dubé syndrome?. American journal of medical genetics. Part A, 167(4), 802-4. PMID: 25655561  

  • April 17, 2015
  • 03:52 AM
  • 101 views

Higher cancer mortality rates associated with mental illness

by Paul Whiteley in Questioning Answers

The findings reported by Steve Kisely and colleagues [1] were of some interest recently and their assertion that despite cancer incidence being "the same as the general population for most psychiatric disorders" or even slightly reduced when a diagnosis of schizophrenia was for example received, mortality due to cancer was "increased in psychiatric patients."Such findings were based on their examination of: "Mental health records [that] were linked with cancer registrations and death records from 2002 to 2007." It follows other work from these authors in this area including that looking at the gap in life expectancy 'from preventable physical illness in psychiatric patients' [2].Head-scratching (no, not for that reason) aside as to why cancer should be more deadly for those diagnosed with a psychiatric condition, the authors suggest that lifestyle factors such as alcohol or tobacco use probably wouldn't account for the quandary presented. One suggestion however - "inequity in access to specialist procedures" - does invite further investigation on the back of what has been previously reported in the area of psychiatric diagnosis and health inequality (see here for example).Indeed, 'disparities in cancer-related healthcare provision' was also one of the explanations put forward by one researcher who replied to my tweet about the Kisely paper (and he should know) complete with reference to research backing up this claim [3]. The Mitchell paper found that: "Rates of mammography screening are lower in women with mental illness, particularly women with SMI [severe mental illness]." Whilst this only covers one type of cancer and one type of screening method, the idea that cancer screening and treatment resources may be 'failing' those with a psychiatric diagnosis is an important one also covered by other researchers [4]. Indeed, Martens et al suggested that "good continuity of care by primary care physicians" may mitigate the issues like screening uptake and the idea of a more 'joined-up' service delivery between psychiatry and other branches of clinical care.Of the various messages to come from the Kisely findings, I'd like to think that a primary one is that of psychiatric diagnoses not appearing in some sort of clinical vacuum with regards to other symptoms and conditions being present and what effect they can have on quality of life. As per my ramblings about autism and the wide spectrum of comorbidities that can and do impact on health and quality of life, we need to be mindful of how presentation of behavioural / psychiatric symptoms can impact on the presentation and treatment of other conditions, many of which are perfectly treatable / manageable in modern medicine.But the question is not completely answered [5]... and one wonders whether the findings from Minna Torniainen and colleagues [6] on a potential 'protective effect' from antipsychotics on early mortality in cases of schizophrenia might also bring some potential explanation(s) to the table?To close: The Force Awakens trailer number 2.----------[1] Kisely S. et al. Why do psychiatric patients have higher cancer mortality rates when cancer incidence is the same or lower? Aust N Z J Psychiatry. 2015 Mar 31. pii: 0004867415577979.[2] Lawrence D. et al. The gap in life expectancy from preventable physical illness in psychiatric patients in Western Australia: retrospective analysis of population based registers. BMJ. 2013 May 21;346:f2539.[3] Mitchell AJ. et al. Breast cancer screening in women with mental illness: comparative meta-analysis of mammography uptake. Br J Psychiatry. 2014 Dec;205(6):428-35.[4] Martens PJ. et al. Are cervical cancer screening rates different for women with schizophrenia? A Manitoba population-based study. Schizophr Res. 2009 Aug;113(1):101-6.[5] Chang CK. et al. A cohort study on mental disorders, stage of cancer at diagnosis and subsequent survival. BMJ Open. 2014 Jan 29;4(1):e004295.[6] Torniainen M. et al. Antipsychotic Treatment and Mortality in Schizophrenia. Schizophr Bull. 2015; 41: 656-663.----------Kisely S, Forsyth S, & Lawrence D (2015). Why do psychiatric patients have higher cancer mortality rates when cancer incidence is the same or lower? The Australian and New Zealand journal of psychiatry PMID: 25829481... Read more »

  • April 16, 2015
  • 02:39 PM
  • 109 views

Could maple syrup help cut use of antibiotics?

by Dr. Jekyll in Lunatic Laboratories

Another reason to have those waffles… well maybe. Researchers have found that a concentrated extract of maple syrup makes disease-causing bacteria more susceptible to antibiotics. In an ever increasing antibiotic resistant world, this news is almost as sweet as the syrup (okay no more bad puns). The findings suggest that combining maple syrup extract with common antibiotics could increase the microbes’ susceptibility, leading to lower antibiotic usage.... Read more »

  • April 16, 2015
  • 01:10 PM
  • 90 views

Counting Chicks

by sedeer in Inspiring Science

It’s probably not a surprise that humans aren’t the only animals with a sense of numbers. While they’re probably not …Continue reading →... Read more »

  • April 16, 2015
  • 08:40 AM
  • 90 views

Outbreak! Time To Review The Origins Of Vaccination

by Bill Sullivan in The 'Scope

Imagine a world without vaccines. The recent measles outbreak in Disneyland is providing us with a very small taste of what such a world would be like. Today on THE 'SCOPE, we go back in time to the age of smallpox and review the fascinating discoveries that led Edward Jenner to invent vaccination, a process that has saved countless lives.... Read more »

Babkin, I., & Babkina, I. (2015) The Origin of the Variola Virus. Viruses, 7(3), 1100-1112. DOI: 10.3390/v7031100  

  • April 16, 2015
  • 05:21 AM
  • 91 views

Paternal sperm epigenetic differences and offspring autism risk

by Paul Whiteley in Questioning Answers

"These data suggest that epigenetic differences in paternal sperm may contribute to autism risk in offspring."So said the preliminary study results published by Jason Feinberg and colleagues [1]  (open-access) looking at "paternal semen biosamples obtained from an autism spectrum disorder (ASD) enriched-risk pregnancy cohort, the Early Autism Risk Longitudinal Investigation (EARLI) cohort." Researchers analysed 44 semen samples to ascertain whether DNA methylation differences - one type of epigenetic mechanism - might be linked to "prospective ASD development" in offspring. Said potential development of autism in offspring was measured via scores at 12 months on the Autism Observation Scale for Infants (AOSI), a schedule designed to "detect and monitor early signs of autism as they emerge in high-risk infants."Based on some nifty technology looking at "genome-wide DNA methylation (DNAm)" Feinberg et al reported various differentially methylated regions (DMRs) in semen samples associated with offspring infant scores on the AOSI. In all, 193 sites were located where methylation was upregulated or downregulated, some of them clustering "near genes involved in developmental processes." Just in case you're still a bit baffled by all this talk of DNA methylation and what it means, I might refer you to some chatter in another area of medicine [2] and how for example, hypermethylation of a genetic site normally means gene silencing. DNA methylation might also have important implications for genetic stability too [3].Further to their methylomic analysis of semen samples, researchers also "examined associated regions in an independent sample of post-mortem human brain ASD and control samples" to complement their study. They reported "consistent differences in the cerebellums of autistic individuals compared with controls" as a function of probes covering those "AOSI-associated DMRs" previously discussed. In summary, epigenetic differences in paternal semen DNA might transmit to offspring at-risk for autism, and that epigenetic profile may also tie into epigenetic differences found in specific brain sites of some of those diagnosed with autism. I might add that we had seen some hint that this work was coming as per some interesting data from this group presented at IMFAR 2014 (see here).Epigenetics is an emerging area when it comes to autism research (see here). I've tried to cover quite a bit of the research with autism in mind including other studies of the methylome (see here) and some of that previous research on brain epigenetic differences potentially being linked to autism (see here). It is a complicated area and easily over-hyped, but what is perhaps so attractive about epigenetics tied into autism (and in many other conditions/labels) is the focus on gene function over and above just structural changes to the genome (and their effects) as per more traditional genetics looking solely at mutations such as SNPs. The idea is that those chemical changes to the genome described by epigenetics, affecting gene function, might bridge the gap between genetics and environment that has plagued autism research down the years (see here). That such epigenetic changes may be amenable to 'alteration' is also an interesting prospect for many people.The Feinberg results are pretty exciting and further open up many areas of epigenetic research to autism including whether factors such as age or environmental exposure(s) might affect paternal methylation patterns (see here and see here respectively) and onwards offspring autism risk. I have to caution though that the current results were based on quite a small number of participants and covered only one part of the epigenomic landscape. Those epigenetic changes noted by Feinberg et al also need to be replicated before anyone gets ahead of themselves with the findings, bearing in mind the heterogeneity of the autism spectrum and all that elevated risk of various comorbidity (see here) potentially also coming into play.Music: Rags To Riches - Tony Bennett.----------[1] Feinberg JI. et al. Paternal sperm DNA methylation associated with early signs of autism risk in an autism-enriched cohort. Int. J. Epidemiol. 2015. 14 April.[2] Baylin SB. DNA methylation and gene silencing in cancer. Nature Clinical Practice Oncology. 2005; 2: S4-S11.[3] Li J. et al. Genomic Hypomethylation in the Human Germline Associates with Selective Structural Mutability in the Human Genome. PLoS Genet. 2012; 8: e1002692.----------Jason I Feinberg, Kelly M Bakulski, Andrew E Jaffe, Rakel Tryggvadottir, Shannon C Brown, Lynn R Goldman, Lisa A Croen, Irva Hertz-Picciotto, Craig J Newschaffer, M Daniele Fallin, & Andrew P Feinberg (2015). Paternal sperm DNA methylation associated with early signs of autism risk in an autism-enriched cohort International Journal of Epidemiology : 10.1093/ije/dyv028... Read more »

Jason I Feinberg, Kelly M Bakulski, Andrew E Jaffe, Rakel Tryggvadottir, Shannon C Brown, Lynn R Goldman, Lisa A Croen, Irva Hertz-Picciotto, Craig J Newschaffer, M Daniele Fallin.... (2015) Paternal sperm DNA methylation associated with early signs of autism risk in an autism-enriched cohort. International Journal of Epidemiology. info:/10.1093/ije/dyv028

  • April 15, 2015
  • 03:45 PM
  • 99 views

Brain development suffers from lack of fish oil fatty acids

by Dr. Jekyll in Lunatic Laboratories

While being inundated with advertisements directed at moms to be, skeptical parents should question the supposed health benefits of anything being sold. However, while recent reports question whether fish oil supplements support heart health, scientists have found that the fatty acids they contain are vitally important to the developing brain. Meaning there might actually be truth in advertising -- this time at least.... Read more »

  • April 15, 2015
  • 02:19 PM
  • 90 views

Porcine Circovirus: Autophagy. Nucleolus, and Apoptosis

by thelonevirologist in Virology Tidbits

Porcine circovirus type 2 (PCV2) is a small non-enveloped single-strand (ss) DNA virus with a genome of 1768 bp in length. Although the infection of pigs with PCV2 by itself only causes a relatively mild diseases, symptoms -including Postweaning Multisystemic Wasting Syndrome (PMWS), congenital tremors, Porcine Dermatitis and Nephropathy Syndrome, reproductive failure, proliferative and necrotizing pneumonia, enteritis, exudative epidermitis, and porcine respiratory disease complex- are alleviated upon co-infection with other porcine viruses such as PRRSV or porcine parvovirus, Mycoplasma hyopneumoniae or following immunostimulation with Interferon-α/-γ (IFN-α/γ).Here the induction of autophagy and apoptosis by the viral ORF3 and Capsid proteins is discussed and a model is presented in which these proteins induce nucleolar stress resulting in apoptosis and autophagy. ... Read more »

Todd, D et al. (2005) Circoviridae. Virus taxonomy: VIIIth report of the International Committee on Taxon- omy of Viruses. DOI: 10.1016/B978-0-7020-2862-5.50039-8  

Rosell C, Segalés J, Ramos-Vara JA, Folch JM, Rodríguez-Arrioja GM, Duran CO, Balasch M, Plana-Durán J, & Domingo M. (2000) Identification of porcine circovirus in tissues of pigs with porcine dermatitis and nephropathy syndrome. The Veterinary record, 146(2), 40-3. PMID: 10678809  

Bird SW, & Kirkegaard K. (2015) Nonlytic spread of naked viruses. Autophagy, 11(2), 430-1. PMID: 25680079  

Bird SW, Maynard ND, Covert MW, & Kirkegaard K. (2014) Nonlytic viral spread enhanced by autophagy components. Proceedings of the National Academy of Sciences of the United States of America, 111(36), 13081-6. PMID: 25157142  

  • April 15, 2015
  • 09:35 AM
  • 87 views

Video Tip of the Week: Viewing Amino Acid info in the UCSC Genome Browser

by Mary in OpenHelix

We’ve been doing training on the UCSC Genome Browser for over 10 years now. We’ve seen it grow from just a few genomes and a few tracks to the enormous trove of information it is today. In fact, one of the toughest things about training is how to balance all the new information and features […]... Read more »

Rosenbloom K. R., G. P. Barber, J. Casper, H. Clawson, M. Diekhans, T. R. Dreszer, P. A. Fujita, L. Guruvadoo, M. Haeussler, & R. A. Harte. (2014) The UCSC Genome Browser database: 2015 update. Nucleic Acids Research, 43(D1). DOI: http://dx.doi.org/10.1093/nar/gku1177  

  • April 15, 2015
  • 08:00 AM
  • 86 views

Boy Plants Are From Mars …..

by Mark Lasbury in As Many Exceptions As Rules

Darwin missed the boat on plants. He recognized sexual dimorphism and sexual selection in animals, but didn’t see the same thing in flowers. Boy plants can look, grow, smell or locate very different from female plants. And it matters – some beetles seek out boy plants for their smell and deliver pollen to girl plants as a bribe for letting them lay eggs there! They have learned to tell guy from gal.
... Read more »

Okamoto, T., Kawakita, A., Goto, R., Svensson, G., & Kato, M. (2013) Active pollination favours sexual dimorphism in floral scent. Proceedings of the Royal Society B: Biological Sciences, 280(1772), 20132280-20132280. DOI: 10.1098/rspb.2013.2280  

  • April 15, 2015
  • 07:20 AM
  • 75 views

Lar Gibbons Give Clues To Language Origins

by Jeffrey Daniels in United Academics

Lar gibbon language may provide insight into the evolution of human language.... Read more »

  • April 15, 2015
  • 03:31 AM
  • 93 views

Maternal diabetes and offspring autism risk... again

by Paul Whiteley in Questioning Answers

"In this large, multiethnic clinical cohort of singleton children born at 28 to 44 weeks’ gestation, exposure to maternal GDM [gestational diabetes mellitus] diagnosed by 26 weeks’ gestation was associated with risk of ASD [autism spectrum disorder] in offspring."That was the conclusion reached by Anny Xiang and colleagues [1] (open-access) following their analysis of some 3300 children diagnosed with ASD as part of a wider cohort of over 300,000 children "born in 1995-2009 at Kaiser Permanente Southern California (KPSC) hospitals." Records of children with and without autism were examined according to the presence or not of maternal type 2 diabetes or maternal GDM during pregnancy. "Diagnosis of GDM was based on laboratory values confirming a plasma glucose level of 200 mg/dL or higher on the glucose challenge test or at least 2 plasma glucose values meeting or exceeding the following values on the 100-g or 75-g oral glucose tolerance test: fasting, 95 mg/dL; 1 hour, 180 mg/dL; 2 hours, 155 mg/dL; and 3 hours, 140 mg/dL." Autism diagnosis was based on "ICD-9 codes 299.x or equivalent KPSC codes" covering "autistic disorders, Asperger syndrome, or pervasive developmental disorder not otherwise specified (PDD-NOS) and excluded childhood disintegrative disorder and Rett syndrome."Results: of the 3388 children diagnosed with an ASD, a large majority were deemed 'unexposed' to either maternal type 2 diabetes or GDM (87%). What this tells us is that ideas about exposure to maternal diabetes being 'universally' associated with a diagnosis of ASD in offspring are incorrect. That being said, some 115 children were exposed to maternal type 2 diabetes and 310 GDM exposed.Taking into account the timing of exposure as per the analysis of gestational weeks at diagnosis of GDM - "26 weeks or earlier (mean of 16 weeks), after 26 weeks but prior to 30 weeks (mean of 28 weeks), and 30 weeks or later (mean of 32 weeks)" - and controlling for various potentially confounding variables such as maternal age, parity, education, household income, race/ethnicity, history of comorbidity, and sex of the child, some interesting results are reported. GDM exposure diagnosed by 26 weeks gestation was associated with something of an increased risk (hazard ratio) of offspring autism to the tune of about a 40% increased risk. At the same time, exposure to maternal pre-existing type 2 diabetes did not seem to significantly elevate the risk of offspring ASD. The Autism Speaks write-up of the Xiang trial offers this helpful statement: "the increased autism risk seen with early gestational diabetes translated into roughly seven additional cases per 1,000 pregnancies."The reason why I titled this post 'maternal diabetes and offspring autism risk... again' is because it is not new news that maternal diabetes might have some kind of effect on offspring autism risk. I covered this research area previously on this blog (see here) based on findings such as those from Xu and colleagues [2] (open-access). Other peer-reviewed research has similarly hinted at the possibility of an association between maternal diabetes and offspring autism as part of a wider spectrum of 'effects' on the developing child [3]."The mechanisms underlying the effects of maternal hyperglycemia on the developing fetus may involve increased oxidative stress, hypoxia, apoptosis, and epigenetic changes" according to that paper by Ornoy and colleagues [3]. With autism in mind, most of those concepts have been banded around as being linked to cases at one time or another, perhaps only missing out on the 'inflammatory' element mentioned by Xiang et al. I wouldn't like to speculate any further on what specific process might be going on (more likely a combination of effects) but given the seemingly important variable of timing, as in exposure to GDM by 26 weeks gestation, I'd suggest that epigenetics might be a front-runner [4]. Foetal programming hypothesis and all that palaver..."Our results also suggest that screening for GDM and control of glucose levels early in pregnancy may be important in reducing ASD risk for offspring. Whether early diagnosis and treatment of GDM can reduce the risk of ASD remains to be determined." I struggle to disagree with the closing sentiments from Xiang and colleagues.----------[1] Xiang AH. et al. Association of Maternal Diabetes With Autism in Offspring. JAMA. 2015; 313: 1425-1434.[2] Xu G. et al. Maternal diabetes and the risk of autism spectrum disorders in the offspring: a systematic review and meta-analysis. J Autism Dev Disord. 2014 Apr;44(4):766-75.[3] Ornoy A. et al. Effect of maternal diabetes on the embryo, fetus, and children: Congenital anomalies, genetic and epigenetic changes and developmental outcomes. Birth Defects Res C Embryo Today. 2015 Mar;105(1):53-72.[4] Lehnen H. et al. Epigenetics of gestational diabetes mellitus and offspring health: the time for action is in early stages of life. Mol Hum Reprod. 2013 Jul;19(7):415-22.----------Xiang, A., Wang, X., Martinez, M., Walthall, J., Curry, E., Page, K., Buchanan, T., Coleman, K., & Getahun, D. (2015). Association of Maternal Diabetes With Autism in Offspring JAMA, 313 (14) DOI: 10.1001/jama.2015.2707... Read more »

Xiang, A., Wang, X., Martinez, M., Walthall, J., Curry, E., Page, K., Buchanan, T., Coleman, K., & Getahun, D. (2015) Association of Maternal Diabetes With Autism in Offspring. JAMA, 313(14), 1425. DOI: 10.1001/jama.2015.2707  

  • April 14, 2015
  • 03:36 PM
  • 100 views

Tracking membranes by imaging – mCLING and surface glycans

by Gal Haimovich in Green Fluorescent Blog

Living cells exhibit many types of membranes which participate in most biological precesses, one way or another. Imaging membranes is usually acheived by two types of reagents: chemical dyes or fluorescent proteins that are targeted to the membrane itself or … Continue reading →... Read more »

Jiang H, English BP, Hazan RB, Wu P, & Ovryn B. (2015) Tracking surface glycans on live cancer cells with single-molecule sensitivity. Angewandte Chemie (International ed. in English), 54(6), 1765-9. PMID: 25515330  

Revelo NH, Kamin D, Truckenbrodt S, Wong AB, Reuter-Jessen K, Reisinger E, Moser T, & Rizzoli SO. (2014) A new probe for super-resolution imaging of membranes elucidates trafficking pathways. The Journal of cell biology, 205(4), 591-606. PMID: 24862576  

  • April 14, 2015
  • 03:18 PM
  • 90 views

Watch out Atkins: Over eating fatty foods can alter your muscle metabolism

by Dr. Jekyll in Lunatic Laboratories

More bad news on the obesity front and strangely enough, on the popular diet front too — at least for diets like atkins. New research shows that even short term high-fat diets can change your metabolism. So while you might think that you can get away with eating fatty foods for a few days without it making any significant changes to your body, think again.... Read more »

Anderson, A., Haynie, K., McMillan, R., Osterberg, K., Boutagy, N., Frisard, M., Davy, B., Davy, K., & Hulver, M. (2015) Early skeletal muscle adaptations to short-term high-fat diet in humans before changes in insulin sensitivity. Obesity, 23(4), 720-724. DOI: 10.1002/oby.21031  

  • April 14, 2015
  • 04:08 AM
  • 112 views

Immune signature in ME/CFS detected in cerebrospinal fluid

by Paul Whiteley in Questioning Answers

The research tag-team that is Mady Hornig and Ian Lipkin are fairly frequently mentioned on this blog. If it's not to do with their studies in autism research (see here for a recent mention) it is with their ground-breaking work looking at chronic fatigue syndrome / myalgic encephalomyelitis (CFS/ME) in mind (see here for example).Indeed their latest paper [1] extends some recent findings (see here) on immune involvement in relation to CFS/ME [2] with a focus on examinations in cerebrospinal fluid (CSF).Based on the analysis of quite a few cytokines - chemical messengers of the immune system - in CSF, researchers compared profiles in 32 'cases' of CFS/ME compared against 40 participants diagnosed with multiple sclerosis (MS) and 19 asymptomatic controls. It's worth noting that their focus on using MS as a control group probably stems from the condition being described as 'autoimmune' in nature and the idea that the body fails to differentiate between 'self' and 'other' when it comes to mounting an immune response. CFS/ME is not normally thought of as an autoimmune condition (yet) but, as I've mentioned before on this blog, there may be mechanisms through which autoimmunity might rear it's head in cases of CFS/ME (see here). I might at this point, also drop in the study by Capelli and colleagues [3] and their findings on: "the possibility that the disease is supported by an as yet unidentified autoimmune reactivity against antigens."Anyhow, comparing those cytokine profiles across the groups, researchers reported that: "Group-specific differences were found for the majority of analytes." One particular cytokine called eotaxin (or CCL11 - C-C motif chemokine 11) showed a particular link to 'cases', "a chemokine involved in eosinophil recruitment." Eosinophils, by the way, are white blood cells involved in inflammatory processes (see here). Further, network analysis was also undertaken by Hornig et al which added to the sentiment that: "immune activation in the central nervous system, and a shift toward an allergic or T helper type-2 pattern associated with autoimmunity" may be associated with cases of CFS/ME.These are important results which build upon the previous sentiments of the authors that: (a) CFS/ME present with psychological/behavioural features but underlying biology is of vital importance to the condition, and (b) part of that biology seems to centre on the immune system and immune function, seemingly moderated by the progression of the condition. I say this acknowledging that the immune system is probably not the be-all-and-end-all of CFS/ME (see here).I should point out that whilst there is some novelty in the results from Hornig and colleagues, though not necessarily because they were based on the analysis of CSF (cerebrospinal fluid) [4] including the recent results presented by Peterson and colleagues [5], this is by no means the first time that immune function has be described as potentially 'problematic' in cases of CFS/ME. Researchers such as Michael Maes have, for quite a while, talked about potential immune involvement among things. The paper from Gordon Broderick and colleagues [6] (open-access) similarly talked about cytokine networks in CFS (that's chronic fatigue syndrome not cerebrospinal fluid) and results that implicated immune function albeit not necessarily in the same direction as those reported in the current study. Oh, and then there is the recent paper from Kate Earl and colleagues [7] too concluding that: "a sub-group of patients with CFS may have low level inflammation." The immune system seems to show some involvement in at least some cases of ME/CFS.Where next? Well, further efforts are required to independently replicate these results. Assuming that the whole diagnostic issue around CFS/ME can be clarified by something like the proposed SEID rebranding of the condition(s), the idea that objective biological tests might be at some point within reach of CFS/ME is becoming a clearer prospect. I say this acknowledging however that CFS/ME covers quite a bit of diagnostic ground and includes quite a bit of comorbidity too (see here) which is bound to complicate matters. Overlapping symptoms is something that I've always been interested in from the perspective of CFS/ME [8]; more so in light of papers such as the one from Khaiboullina and colleagues [9].In some accompanying media about these latest results, Prof. Lipkin also talks about the possibility of therapeutics to eventually come from this stream of work for CFS/ME. Aside from the fact that certain pharmaceutics have already been discussed in the peer-reviewed arena with specific cases of CFS/ME in mind (see here), I'm a little bit cautious about the use of something like human monoclonal antibodies as one possibility. Further safety and efficacy studies are required. Insofar as that specific eotaxin finding (elevated in CFS/ME), I might be minded to suggest that evidence from other conditions on possible pharmaceutics to tackle this specific cytokine might lead to some interesting discussions...Music to close: Radiohead - Fake Plastic Trees.----------[1] Hornig M. et al. Cytokine network analysis of cerebrospinal fluid in myalgic encephalomyelitis/chronic fatigue syndrome. Molecular Psychiatry. 2015. March 31.[2] Hornig M. et al. Distinct plasma immune signatures in ME/CFS are present early in the course of illness. Science Advances. 2015; 1: 1: e1400121.[3] Capelli E. et al. Chronic fatigue syndrome: Features of a population of patients from northern Italy. Int J Immunopathol Pharmacol. 2015 Mar;28(1):53-9.[4] Natelson BH. et al. Spinal fluid abnormalities in patients with chronic fatigue syndrome. Clin Diagn Lab Immunol. 2005 Jan;12(1):52-5.[5] Peterson D. et al. Cytokines in the Cerebrospinal Fluids of Patien... Read more »

  • April 13, 2015
  • 03:37 PM
  • 111 views

The placebome: Where genetics and the placebo effect meet

by Dr. Jekyll in Lunatic Laboratories

Placebos have helped to ease symptoms of illness for centuries and have been a fundamental component of clinical research to test new drug therapies for more than 70 years. But why some people respond to placebos and others do not remains under debate.... Read more »

Kathryn T. Hall et al. (2015) Genetics and the placebo effect: the placebome. Trends in Molecular Medicine. info:/10.1016/j.molmed.2015.02.009

  • April 13, 2015
  • 10:34 AM
  • 111 views

An unusual form of diabetes may be caused by drinking arsenic-contaminated water

by Megan Cartwright in Science-Based Writing

Like a careless criminal, even small amounts of toxic arsenic leave telltale fingerprints on victims’ bodies—although these fingerprints are different if the victim as Type 2 Diabetes, scientists report. And arsenic has many potential victims: more than 200 million people worldwide … Continue reading →... Read more »

Martin, E., Gonzalez-Horta, C., Rager, J., Bailey, K., Sanchez-Ramirez, B., Ballinas-Casarrubias, L., Ishida, M., Gutierrez-Torres, D., Hernandez Ceron, R., Viniegra Morales, D.... (2015) Metabolomic Characteristics of Arsenic-Associated Diabetes in a Prospective Cohort in Chihuahua, Mexico. Toxicological Sciences, 144(2), 338-346. DOI: 10.1093/toxsci/kfu318  

  • April 13, 2015
  • 06:43 AM
  • 108 views

Let there be light: how light can affect our mood

by neurosci in Neuroscientifically Challenged

If you're looking for an indication of how intricately human physiology is tied to the environment our species evolved in, you need look no further than our circadian clock. For, the internal environment of our body is regulated by 24-hour cycles that closely mirror the time it takes for the earth to rotate once on its axis. Moreover, these cycles are shaped by changes in the external environment (e.g. fluctuating levels of daylight) associated with that rotation. Indeed, this 24-hour cycle regulates everything from sleep to rate of metabolism to hormone release, and it is so refined that it continues even in the absence of environmental cues. In other words, even if you place a person in a room with no windows to see when the sun rises and sets and no clocks to know the time, he will maintain a regular circadian rhythm that approximates 24 hours.Despite the ability of circadian rhythms to persist in the absence of environmental cues, however, our body clock is very responsive to the presence of light in the external environment. It uses information about illumination levels to synchronize diurnal physiological functions to occur during daylight hours and nocturnal functions to occur during the night. Thus, the presence or absence of light in the environment can indicate whether systems that promote wakefulness or sleep should be activated. In this way, ambient light (or lack thereof) becomes an important signal that can lead to the initiation of an array of biological functions.It may not be surprising then that abnormalities in environmental illumination (e.g. it is light when the body's clock expects it to be dark) can have a generally disrupting effect on physiological function. Indeed, unexpected changes in light exposure levels have been associated with sleep disturbances, cognitive irregularities, and even mood disorders. Many of these problems are thought to occur due to lack of accord between circadian rhythms and environmental light; however, a role now is also being recognized for the ability of light to affect mood directly, without first influencing circadian rhythms.Physiology of light detectionFor light to be able to influence the 24-hour clock, information about light in the environment must first be communicated to the brain. In non-mammalian vertebrates (e.g. fish, amphibians), there are photoreceptors outside of the eye that can accomplish this task. For example, some animals like lizards have a photoreceptive area below the skin on the top of their heads. This area, sometimes referred to as the third eye, responds to stimulation from light and sends information regarding light in the environment to areas of the brain involved in regulating circadian rhythms.In humans and other mammals, however, it seems the eyes act as the primary devices for carrying information about light to the brain--even when that information isn't used in the process of image formation. The fact that some blind patients are able to maintain circadian rhythms and display circadian-related physiological changes in response to light stimulation suggests that the retinal mechanism for detecting light for non-image forming functions may involve cells other than the traditional photoreceptors (i.e. rods and cones). While up until about ten years ago it was thought that rods and cones were the only photoreceptive cells in the retina, it is now believed there may be a third class of photoreceptive cell. These cells, called intrinsically photoreceptive retinal ganglion cells (ipRGCs), can respond to light independently of rods and cones. They are thought to have a limited role in conscious sight and image formation, but they may play an important part in transmitting information about environmental light to the brain.ipRGCs project to various areas of the brain thought to be involved in the coordination of circadian rhythms, but their most important connection is to the suprachiasmatic nuclei (SCN). The SCN are paired structures found in the hypothalamus that each contain only about 10,000 neurons. Although 10,000 neurons is a relatively paltry number compared to other areas of the brain, these combined 20,000 neurons make up what is often referred to as the "master clock" of the body. Through an ingenious mechanism involving cycles of gene transcription and suppression (see here for more about this mechanism), the cells of the SCN independently display circadian patterns of activity, acting as reliable timekeepers for the body. Projections from the SCN to various other brain regions are responsible for coordinating circadian activity throughout the brain.Although the cells in the SCN are capable of maintaining circadian rhythms on their own, they need information from the external environment to match their oscillatory activity up with the solar day. This is where input from ipRGCs comes in; most of this input is supplied via a pathway that travels directly from the retina to the SCN called the retinohypothalamic tract. This tract uses glutamate signaling to notify the SCN when there is light in the external environment, ensuring SCN activity is in the diurnal phase when there is daylight present.Thus, there is a complex machinery responsible for maintaining physiological activity on a semblance of a 24-hour schedule and matching that circadian cycle up with what is really going on in the outside world. When the operation of this machinery is disrupted in some way, however, it can contribute to a variety of problems.Indirect effects of light on moodThe brain has evolved a number of mechanisms that allow circadian rhythms to remain synchronized with the solar day. However, when there are rapid changes in the timing of illumination in the external environment, this can lead to a desynchronization of circadian rhythms. This desynchronization then seems to have a disruptive effect on cognition and mood; thus, these effects are described as indirect effects of light on mood because light must first affect circadian rhythms, which in turn affect mood.Transmeridian travel and shift workAn example of this type of circadian disruption occurs during rapid transmeridian travel, such as flying from New York to California. Crossing multiple time zones causes the body's clock to become discordant with the solar day; in the case of flying from New York to California the body would expect the sun to go down three hours later than it actually would in the new time zone. This can result in a condition colloquially known as jet lag, but medically referred to by terms that imply circadian disruptions: desynchronosis or circadian dysrhythmia.Transmeridian travel can lead to a number of both cognitive and physical symptoms. Sleep disturbances afterwards are common, as are other mood disturbances like irritability and fatigue. Physical complaints like headache also frequently occur, and studies have found individuals who undergo transmeridian travel subsequently display decreased physical performance and endurance. Transmeridian travel has even been found to delay ovulation and disrupt the menstrual cycle in women. One study found airline workers who had been exposed to transmeridian travel for four years displayed deficits in cognitive performance, suggesting there may be an accumulative effect of jet lag on cognition.Similar disruptions in cognition and physiological function can be seen in individuals who are exposed to high levels of nighttime illumination (e.g. those who work a night shift). People who are awake during nighttime hours and attempt to sleep during the day generally experience sleep disturbances that are associated with cognitive deficits and even symptoms of depression. The long-term effects of continued sleep/wake cycle disruption due to shift work involve a variety of negative outcomes, including an increased risk of cancer.Seasonal affective disorderIn some cases of depression, symptoms begin to appear as the daylight hours become shorter in fall and winter months. The symptoms then often decrease in the spring or... Read more »

LeGates, T., Fernandez, D., & Hattar, S. (2014) Light as a central modulator of circadian rhythms, sleep and affect. Nature Reviews Neuroscience, 15(7), 443-454. DOI: 10.1038/nrn3743  

  • April 13, 2015
  • 01:38 AM
  • 110 views

Interoception and body awareness in autism

by Paul Whiteley in Questioning Answers

"Interoception: the sense of the physiological condition of the body" [1].This was an important concept detailed in the paper by Lisa Fiene and Charlotte Brownlow [2] with autism in mind. Looking at how adults diagnosed with an ASD (autism spectrum disorder) "interpret elements of the interoceptive sense, which includes thirst, hunger, temperature, satiety" researchers questioned those on the spectrum (n=74) and asymptomatic controls (n=228) with "self-reported perceptions of body awareness... and thirst awareness" in mind.Based on data derived from the Body Awareness Questionnaire (BAQ) and Thirst Awareness Scale (TAS), a lower level of of body and thirst awareness was reported for the autism group. Indeed, authors reported "a large effect" when it came to the differences between the groups. Ergo: "difficulty with sensing internal bodily states could theoretically impact on the physical and mental health, social interactions and self-awareness of adults with ASD."These are potentially very important results. Allowing for the fact that self-report measures were used and that those towards the more 'able' end of the autism spectrum were only included for study, the idea that basic sensations such as hunger and thirst might not always be sensed and acted upon by some on the autism spectrum is a little worrying.Outside of the reports of issues with response to temperature noted for some on the autism spectrum which may fall into the area of altered interoception, the idea that thirst, hunger and satiety mechanisms might also show some alteration for some potentially taps into quite a few other areas too. One might for example, entertain the idea that issues with interoception might tie into the growing evidence base looking at feeding practices and weight issues with autism in mind (see here), accepting that feeding practices/habits are probably not the only variable related to weight issues (see here). I wonder also if the reported issues with the hormone ghrelin in cases of autism might also show some involvement too (see here). Polydipsia - excessive thirst - also has some research history with autism in mind (see here) that might also require a little more investigation. Examining the issue of interoception and autism with the various sensory issues linked to the diagnosis (see here) is probably a good idea.Music: Foals - Spanish Sahara.----------[1] Craig AD. How do you feel? Interoception: the sense of the physiological condition of the body. Nature Reviews Neuroscience. 2002; 3: 655-666.[2] Fiene L. & Brownlow C. Investigating interoception and body awareness in adults with and without autism spectrum disorder. Autism Res. 2015 Mar 25.----------Fiene L, & Brownlow C (2015). Investigating interoception and body awareness in adults with and without autism spectrum disorder. Autism research : official journal of the International Society for Autism Research PMID: 25808391... Read more »

  • April 12, 2015
  • 01:36 PM
  • 101 views

Neuronal disorders and energy metabolism

by Dr. Jekyll in Lunatic Laboratories

Scientists in Japan have have discovered how nerve cells adjust to low energy environments during the brain's growth process. Their study may one day help find treatments for nerve cell damage and neurodegenerative disorders such as Alzheimer's and Parkinson's diseases.... Read more »

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