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  • August 26, 2015
  • 09:40 AM

Video Tip of the Week: Human Metabolome Database, HMDB

by Mary in OpenHelix

The HMDB, or Human Metabolome DataBase, is another nice data collection and tools from the Wishart lab. Although we have mentioned it in the past, because of it’s emphasis more on small molecules it isn’t something we covered in detail. But with this new video that’s available, I thought it was a good time to […]... Read more »

Wishart, D., Jewison, T., Guo, A., Wilson, M., Knox, C., Liu, Y., Djoumbou, Y., Mandal, R., Aziat, F., Dong, E.... (2012) HMDB 3.0--The Human Metabolome Database in 2013. Nucleic Acids Research, 41(D1). DOI: 10.1093/nar/gks1065  

  • August 26, 2015
  • 08:45 AM

Twins That Share More Than Clothes

by Mark Lasbury in As Many Exceptions As Rules

Not every pair of monozygotic twins have the same chromosomes. Mosaic twins can be boy and girl, yet both babies come from a single zygote. The strange part is that the tests we run to prevent IVF problems may actually contribute to mosaic twinning. And have you heard of polar body twins? They’re ½ identical twins!... Read more »

Souter, V., Parisi, M., Nyholt, D., Kapur, R., Henders, A., Opheim, K., Gunther, D., Mitchell, M., Glass, I., & Montgomery, G. (2006) A case of true hermaphroditism reveals an unusual mechanism of twinning. Human Genetics, 121(2), 179-185. DOI: 10.1007/s00439-006-0279-x  

Tachon, G., Lefort, G., Puechberty, J., Schneider, A., Jeandel, C., Boulot, P., Prodhomme, O., Meyer, P., Taviaux, S., Touitou, I.... (2014) Discordant sex in monozygotic XXY/XX twins: a case report. Human Reproduction, 29(12), 2814-2820. DOI: 10.1093/humrep/deu275  

  • August 26, 2015
  • 08:00 AM

Virtual Normals for Somatic Mutation Detection

by Daniel Koboldt in Massgenomics

In cancer genomics, we typically identify somatic alterations by sequencing DNA from both a tumor and a matched normal “control” sample from the same patient. The Cancer Genome Atlas and other large-scale efforts to characterize tumor genomes have typically used this approach, because it allows mutation callers (like VarScan 2) to distinguish between inherited variation and acquired (somatic) […]... Read more »

  • August 26, 2015
  • 03:51 AM

Atopic dermatitis and autism: systematically reviewed

by Paul Whiteley in Questioning Answers

I briefly want to bring the paper from Lucia Billeci and colleagues [1] to your attention today and the suggestion that following their systematic review of the current peer-reviewed literature, there seemed to be something of "an association between ASD [autism spectrum disorder] and AD [atopic dermatitis]."Atopic, by the way, refers to sensitivity to allergens, and in the case of AD, how such sensitivity manifests on the skin causing itchiness, redness and the skin to become sore potentially also making it more prone to other infections.Looking at 18 studies covering the topic of AD and other atopic diseases in relation to autism using the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines, authors concluded that "the frequencies of AD in ASD compared with a control group ranged from 7 to 64.2 %." Accepting such variability, they concluded that there may be quite a bit more to see in terms of an 'association' between the diagnostic entities.I've covered the idea of a connection between autism and atopy quite a few times on this blog (see here and see here). Although to some extent confused by a possible relationship with other comorbidity that quite regularly feature alongside autism (attention-deficit hyperactivity disorder, ADHD), the idea of a sort of skin-brain axis with autism in mind (see here) does seem to be gaining some scientific traction on the basis of such data. That and the idea that immune function (a driver of conditions such as atopy) might be closely linked to at least some autism (see here for example) and one gets further peer-reviewed evidence that research efforts might need to be increased.Oh, and that atopy and psychiatry might also extend further than just autism and/or ADHD is potentially important [2]...Music: Foxes - Body Talk.----------[1] Billeci L. et al. Association Between Atopic Dermatitis and Autism Spectrum Disorders: A Systematic Review. Am J Clin Dermatol. 2015 Aug 8.[2] Catal F. et al. Psychiatric disorders and symptoms severity in preschool children with atopic eczema. Allergol Immunopathol (Madr). 2015 Aug 3. pii: S0301-0546(15)00092-0.----------Billeci L, Tonacci A, Tartarisco G, Ruta L, Pioggia G, & Gangemi S (2015). Association Between Atopic Dermatitis and Autism Spectrum Disorders: A Systematic Review. American journal of clinical dermatology PMID: 26254000... Read more »

Billeci L, Tonacci A, Tartarisco G, Ruta L, Pioggia G, & Gangemi S. (2015) Association Between Atopic Dermatitis and Autism Spectrum Disorders: A Systematic Review. American journal of clinical dermatology. PMID: 26254000  

  • August 25, 2015
  • 03:13 PM

Microbes and the mind: Who's pulling the strings?

by neurosci in Neuroscientifically Challenged

There are many examples throughout nature of microorganisms like bacteria, viruses, and parasites influencing the neurobiology and behavior of their hosts. For example, the rabies virus enters the nervous system almost immediately after a bite or scratch and travels to the brain, where it influences neural activity to make aggressive behavior more likely. This, of course, is beneficial for the virus as it increases the probability its infected host will make contact with another susceptible host, in effect improving the likelihood the viral strain will be able to propagate. Another well-known example involves the parasite Toxoplasma gondii, which needs to live in its preferred environment of feline intestines to survive and reproduce. When T. gondii embryos are excreted in the feces of cats, they are consumed by rodents (who are wont to dig through cat feces looking for pieces of undigested food). It is thought that T. gondii then has a mechanism by which it can influence rodent behavior to make rats and mice less afraid of--and perhaps even attracted to--cat urine. The loss of inhibitions regarding the smell of their natural predator's urine causes rodents to be more likely to remain in the vicinity of cats, and thus be consumed by cats. This puts T. gondii right back in its preferred feline intestinal environment, giving the impression that the whole process may have been elegantly orchestrated by the microbial parasite.Despite the existence of these natural cases of "microbial mind control," it is only very recently that neuroscientists have begun to take the idea seriously that microorganisms may also have an influence on human behavior. With recent advances in research technologies, however, we have learned more about the microorganism populations that inhabit our bodies, and their potential influence on our behavior--although not yet understood--is becoming difficult to dismiss. The gastrointestinal tract has received the most attention in this regard, as it has the most extensive bacterial colonization of any area in the human body. Thus, the gut has become a new target in attempts to understand behaviors ranging from eating, to stress, to disorders like autism.The gut-brain axisResearchers have long been aware of a powerful connection between the gut, or gastrointestinal tract, and the brain; it was already clear to 19th and early 20th century scientists like Charles Darwin, William James, and Walter Cannon that strong emotions influenced the functioning of the gastrointestinal system. Near the beginning of the 20th century, it became recognized that the gut is governed by a complex nervous system structure that we now know consists of hundreds of millions of neurons and can operate autonomously (without input from the central nervous system). This neuronal structure, dubbed the enteric nervous system, which can be found in the walls of the gastrointestinal tract from the esophagus to anus, is now considered another branch of the autonomic nervous system (although it is sometimes called our "second brain" due to its complexity and similarities with the brain of the central nervous system). The connections between the brain and the enteric nervous system are extensive; the two can communicate through neuronal, endocrine, and immune system signaling.The gut microbiotaIn addition to having its own nervous system, the gut is also home to up to 100 trillion microorganisms. This number includes over 1,000 different species of microbes, the vast majority of which are bacteria. Together, these microorganisms are thought to outnumber the cells in our body by more than 10 times (which has led writer Michael Pollan to describe us as only 10% human), and they possess about 150 times the number of genes found in our genome. As a whole, gut microorganisms make up the majority of our microbiota, the collection of microorganisms we share our bodies with.Our resident microorganisms are not just passive roommates, either; they play significant roles in widespread physiological functions. For example, they are likely involved in nutrient absorption, fat storage, and the function and development of a healthy immune system. In fact, it seems like we have what is known as a mutualistic relationship with these microbes, wherein both species (us and the microbes) benefit from our proximity. The microorganisms in our gut are able to dwell in an environment where they can survive and reproduce, and in return they perform a number of functions that promote our own health and viability. On the other hand, one could argue that we are simply--as microbiologist Justin Sonnenburg puts it--"an elaborate vessel optimized for the growth and spread of our microbial inhabitants." According to this perspective, it is the microorganisms that are manipulating the evolution and behavior of their host in order to achieve their maximum level of fitness. For example, some researchers believe that, in order to obtain the nutrients they desire, microbes have developed ways of shaping our appetites to make us crave the types of food that will supply those nutrients. But this is just the tip of the iceberg, as the gut microbiota is now being explored as a potential driver of a wide array of human behavior and as an underlying cause in a number of mental disorders.Gut microbiota and behaviorThe range of mechanisms by which gut microbiota may be able to influence human behavior is likely very complex and not yet fully understood, but there are several aspects of gut-brain communication that have been identified as potential drivers of behavior. Some of these are fairly direct. For example, the vagus nerve travels down from the brainstem to innervate the internal organs of the body and provides extensive innervation to the gastrointestinal tract. It represents the most direct connection between the gut and the brain, and studies have found that stimulation of the vagus nerve by microorganisms is associated with changes in behavior, brain function, and neurotransmitter receptor levels in the brain.Additionally, most of the neurotransmitters found in the brain are also found in the gut at equivalent or greater levels. These neurotransmitters are capable of stimulating the vagus nerve to affect central nervous system function, and the amount of neurotransmitter present in the gut is influenced by the activity of gut microbiota. For example, the vast majority of serotonin in the body is produced in the gut, and its production is regulated by microbial activity there. Additionally, gut microbes are involved in the production of neurotransmitter precursors, which can then cross the blood-brain barrier to affect neurotransmitter synthesis in the brain. Gut microbiota, for example, are involved in the synthesis of tryptophan, the precursor to serotonin. After it is produced, tryptophan can cross the blood-brain barrier to affect serotonin production in the brain.The influence of gut microbiota on behavior can also be indirect. For example, gut microbes can affect the activity of the immune system, and alterations in immune system function can impact behavior. A well-known example of the immune system's ability to influence behavior involves sickness behaviors. Sickness behaviors are thought to be an adaptive response to infection; they include... Read more »

  • August 25, 2015
  • 03:06 PM

Why Carefree Lady Fish Grow Larger Genitals

by Elizabeth Preston in Inkfish

The history of Bahamas mosquitofish is written in their genitals. Though you'd have a hard time locating a female fish's reproductive parts, they tell a story of predators, suitors, and finding a way to regain control.

Gambusia hubbsi arrived at Andros Island, in the Bahamas, about 15,000 years ago. The little fish live in vertical, water-filled caves called blue holes. Populations separated from each other by these caves are in the process of evolving into different species, pushed by th... Read more »

  • August 25, 2015
  • 03:06 AM

MOCOS: a new candidate for autism resarch

by Paul Whiteley in Questioning Answers

I'll freely admit that until reading the paper by François Féron and colleagues [1] (open-access available here) I had never heard of MOCOS (MOlybdenum COfactor Sulfurase) before.Described as "an enzyme of the purine metabolism that sulfurates the molybdenum cofactor, thus allowing the two downstream enzymes—xanthine dehydrogenase (XDH) and aldehyde oxidase (AOX1)—to be active", researchers reported that in nasal stem cells provided by a small group of adults diagnosed with an autism spectrum disorder (ASD), MOCOS was down-regulated compared with analyses of similar cells from asymptomatic controls. They concluded that differences related to MOCOS might be important: "likely to have an impact on neurodevelopment and neurotransmission, and may explain comorbid conditions, including gastrointestinal disorders."I'm intrigued.The Féron paper is open-access but a few details might be useful:Eleven participants diagnosed with autism (autism spectrum disorder, ASD) were included for study. Interestingly, DSM-5 diagnostic criteria were used to confirm the presence of ASD. Age and gender matched asymptomatic (for autism) controls were also used. As per the supplementary information included with the main article (see here), the authors characterised their participant group pretty well from various different angles.A nasal biopsy was performed on participants in order to extract "nasal olfactory stem cells" based on a previously published technique [2]. Again, it's new news to me that you can get stem cells from the nose but apparently the "olfactory epithelium is also a nervous tissue that produces new neurons every day to replace those that are damaged by pollution, bacterial of viral infections. This permanent neurogenesis is sustained by progenitors but also stem cells residing within both compartments of the mucosa, namely the neuroepithelium and the underlying lamina propria."Based on a "non-hypothesis-driven approach" Féron et al set about looking for "transcriptome anomalies" between the groups. Alongside other potentially important differences they stumbled across MOCOS in relation to their autism cohort and decided to look-see whether this might have some impact on cerebral functions using a classical worm model - Caenorhabditis elegans (C. elegans). A "genetic ablation of mocs-1 (the MOCOS ortholog)" engineered into the worm induced "an alteration of the response to oxidative stress and is responsible for abnormal neurotransmission phenotypes." Human cell studies confirmed this data.Despite the small participant group, the MOCOS findings might carry some weight in view of some of the other 'dysregulated' genes that turned up with the ASD group in mind. So: "9 out of these 156 genes—ADAM23, CADM1, FOS, FOSB, JAG1, MEST, OXTR, SFRP1 and XIST—have been previously associated with ASD." You might note the mention of OXTR in that list, denoting the oxytocin receptor gene bearing in mind the cautious history in that area. That also pathway analysis of the genes differentially regulated in the autism group "identified developmental disorders and gastrointestinal diseases as two of the most represented categories associated with these genes" adds to the interest, bearing in mind the term 'over-represented' when it comes to bowel issues and autism (see here).The suggestion that "MOCOS misexpression increases sensitivity to oxidative stress" is also an important part of the Féron findings. Oxidative stress and autism has quite a bit of peer-reviewed research history (see here for example) particularly in areas such as glutathione metabolism (see here) albeit not universally [3]. It's not beyond the realms of possibility that MOCOS may indeed be a contributory factor to such issues being present in some cases.Further work is required in this area to corroborate the Féron data using larger participant numbers for example. With that in mind, I'll be keeping my eye open for more work on MOCOS and autism and whether it lives up to its 'new player' status...Music: Weezer and Undone.----------[1] Féron F. et al. Olfactory stem cells reveal MOCOS as a new player in autism spectrum disorders. Mol Psychiatry. 2015 Aug 4.[2] Girard SD. et al. Isolating nasal olfactory stem cells from rodents or humans. J Vis Exp. 2011 Aug 22;(54). pii: 2762.[3] Durieux AM. et al. Cortical and subcortical glutathione levels in adults with autism spectrum disorder. Autism Res. 2015 Aug 20.----------Féron F, Gepner B, Lacassagne E, Stephan D, Mesnage B, Blanchard MP, Boulanger N, Tardif C, Devèze A, Rousseau S, Suzuki K, Izpisua Belmonte JC, Khrestchatisky M, Nivet E, & Erard-Garcia M (2015). Olfactory stem cells reveal MOCOS as a new player in autism spectrum disorders. Molecular psychiatry PMID: 26239292... Read more »

Féron F, Gepner B, Lacassagne E, Stephan D, Mesnage B, Blanchard MP, Boulanger N, Tardif C, Devèze A, Rousseau S.... (2015) Olfactory stem cells reveal MOCOS as a new player in autism spectrum disorders. Molecular psychiatry. PMID: 26239292  

  • August 24, 2015
  • 04:05 PM

Argania spinosa has goat ornaments and makes a useful oil

by Rosin Cerate in Rosin Cerate

Argania spinosa (argan) is a tough little tree endemic to a limited area in southwestern Morocco and a bit of very western Algeria (Tindouf). Patchy forests of the tree cover about 800,000 hectares of the semi-arid Sous valley. These represent a unique biotope and have been designated a fancy UNESCO biosphere reserve. The presence of the forests slows desertification, as the drought-resistant trees act to stabilize the soil. Argan trees can live up to 250 years and are able to make do with poor soils that contain few nutrients.Forests of Argania spinosa provide a home for the Mediterranean fruit fly (Ceratitis capitata), a crop-eating monster that has invaded other parts of the world (see: the California crisis) and isn't too picky about what it eats (>300 fruits and veggies). In Morocco, the flies use the forests as a base of operations from which to launch attacks on neighbouring agricultural areas, severely limiting crop production. Fortunately, research by Moroccan scientists has revealed that Ceratitis capitata is killed by certain bacteria and fungi hanging out in the soil of Argania spinosa forests. They include Bacillus thuringiensis, which makes crystal proteins that are specifically toxic to insects (Bt toxin), and entomopathogenic (insect-infecting) fungi such as Beauveria bassiana. These microorganisms are currently being investigated for use as biological control agents to control the fruit fly, which is much preferable to using nasty broad-spectrum insecticides. Ants residing near argan trees may also offer a means of controlling Ceratitis capitata, as some species prey upon fly larvae while they are looking for a place to enter the pupal stage on the ground beneath the trees.Argania spinosa has an important role in the lives of those residing near it. Much like olive trees in other parts of the Mediterranean, the argan tree provides a source of fuel (used to make charcoal), timber (hard and durable), forage for goats (which climb the trees to get at the leaves) and camels, and a highly nutritious edible oil (important source of fatty acids for locals).Majestic goats aloft in Argania spinosa (Source)The tree produces a complicated, many-layered fruit. It has a thick peel, a sweet smelling but yucky tasting pulp, a hard central nut, and oil-rich kernels (usually one, but sometimes two or three) within the nut. Traditionally, the peel and pulp are removed (the pulp can be fed to animals, and its camphor-rich essential oil may make a good insect repellent), the nut is cracked to get at the kernels, and the kernels are lightly roasted, ground up (with or without water), and pressed to squeeze out an edible oil (argan oil). Due to the roasting of the kernels, the oil tastes like hazelnuts. It's eaten with bread (e.g. amlou dip = argan oil + crushed almonds + honey) or used for cooking.Argan oil is mostly made up of mono-unsaturated fatty acids, but also contains things like saturated fatty acids, polyphenols, tocopherols, sterols, saponins, and triterpene alcohols. It's somewhat similar to olive oil in its unsaturated fatty acid composition, as both contain high levels of oleic acid and linoleic acid. Since olives are grown all over the Mediterranean the fatty acid composition of olive oil can vary substantially. In contrast, argan oil has a fairly consistent composition due to the limited area in which argan trees grow.Many of the molecules present in argan oil are suspected to have protective effects against bad health stuff including cancer, diabetes, heart disease, and liver disease. The oil has also been used to treat skin diseases (e.g. acne) since ancient times. However, more clinical studies need to be done to properly assess the medicinal applications of the oil.Argan fruit contains multitudes (Source)Argan oil from unroasted kernels is included in cosmetics such as skin creams, shampoos, and hair sprays. It appears to help moisturize hair and make it shine, reduce fingernail brittleness, and hydrate dry skin while inhibiting sebum secretion (i.e. making your face less greasy) and reducing wrinkles. In particular, the high polyphenol content of the oil may protect against UV-induced wrinkle formation.The kernel residue left over after pressing out the oil (argan cake) can also be used to make cosmetics, as it contains high molecular weight proteins thought to have anti-wrinkle properties. Inhalation of the argan cake by cosmetic factory workers during its processing can cause hypersensitivity pneumonitis, a lung disease resulting from proteins in the cake stimulating a damaging immune response when they are inhaled deep into the pulmonary alveoli.ReferencesAboussaid H, Vidal-Quist JC, Oufdou K, El Messoussi S, Castañera P, González-Cabrera J. 2011. Occurrence, characterization and insecticidal activity of Bacillus thuringiensis strains isolated from argan fields in Morocco. Environmental Technology 32(11-12):1383-1391. [First page]Ahansal L, Sassi AB, Martini A, Vaughan-Martini A, Walker G, Boussaid A. 2008. Biodiversity of yeasts isolated from the indigenous forest of Argan (Argania spinosa (L.) Skeels) in Morocco. World Journal of Microbiology and Biotechnology 24(6):777-782. [First two pages]Bas P, Dahbi E, El Aich A, Morand-Fehr P, Araba A. 2005. Effect of feeding on fatty acid composition of muscles and adipose tissues in young goats raised in the Argan tree forest of Morocco. Meat Science 71(2):317-326.Charrouf Z, Guillaume D. 2010. Should the amazigh diet (regular and moderate argan-oil consumption) have a beneficial impact on human health? Critical Reviews in Food Science and Nutrition 50(5):473-477. [First page]El Keroumi A, Naamani K, Soummane H, Dahbi A. 2012. Seasonal dynamics of ant community structure in the Moroccan Argan Forest. Journal of Insect Science 12(94):1-19. [Full text]El Mousadik A, Petit RJ. 1996. High level of genetic differentiation for allelic richness among populations of the argan tree [Argania spinosa (L.) Skeels] endemic to Morocco. Theoretical and Applied Genetics 92(7):832-839.Guillaume D, Charrouf Z. 2011. Argan oil and other argan products: Use in dermocosmetology. European Journal of Lipid Science and Technology 113(4):403-408.Harhar H, Gharby S, Ghanmi M, El Monfalouti H, Guillaume D, Charrouf Z. 2010. Composition of the essential oil of Argania spinosa (Sapotaceae) fruit pulp. Natural Product Communications 5(6):935-936.Imoulan A, Alaoui A, El Meziane A. 2011. Natural occurrence of soil-borne entomopathogenic fungi in the Moroccan Endemic forest of Argania s... Read more »

Monfalouti HE, Guillaume D, Denhez C, & Charrouf Z. (2010) Therapeutic potential of argan oil: A review. The Journal of Pharmacy and Pharmacology, 62(12), 1669-75. PMID: 21054392  

Paris C, Herin F, Reboux G, Penven E, Barrera C, Guidat C, & Thaon I. (2015) Working with argan cake: A new etiology for hypersensitivity pneumonitis. BMC Pulmonary Medicine, 18. PMID: 25888313  

  • August 24, 2015
  • 01:15 PM

Genetic overlaps in autoimmune diseases may suggest common therapies

by Dr. Jekyll in Lunatic Laboratories

Scientists who analyzed the genes involved in 10 autoimmune diseases that begin in childhood have discovered 22 genome-wide signals shared by two or more diseases. These shared gene sites may reveal potential new targets for treating many of these diseases, in some cases with existing drugs already available for non-autoimmune disorders.... Read more »

Yun R Li,, Jin Li,, Sihai D Zhao,, Jonathan P Bradfield,, Frank D Mentch,, S Melkorka Maggadottir,, Cuiping Hou,, Debra J Abrams,, Diana Chang,, Feng Gao,.... (2015) Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. Nature Medicine. DOI: http://.org/10.1038/nm.3933  

  • August 24, 2015
  • 05:54 AM

Xenotransplants: How a Pig Could Save Your Life

by rebekah morrow in United Academics

While it sounds like something from The Island of Dr. Moreau, physicians and research scientists are convinced that clinical trials will be underway in the near future.... Read more »

Iwase, H., Liu, H., Wijkstrom, M., Zhou, H., Singh, J., Hara, H., Ezzelarab, M., Long, C., Klein, E., Wagner, R.... (2015) Pig kidney graft survival in a baboon for 136 days: longest life-supporting organ graft survival to date. Xenotransplantation, 22(4), 302-309. DOI: 10.1111/xen.12174  

Cooper, D., Ekser, B., & Tector, A. (2015) A brief history of clinical xenotransplantation. International Journal of Surgery. DOI: 10.1016/j.ijsu.2015.06.060  

Cooper DK. (2012) A brief history of cross-species organ transplantation. Proceedings (Baylor University. Medical Center), 25(1), 49-57. PMID: 22275786  

  • August 24, 2015
  • 05:09 AM

Social Anxiety Disorder and autism (again)

by Paul Whiteley in Questioning Answers

So: "A large subset (50 %) of the adults with ASD [autism spectrum disorder] met diagnostic criteria for SAD [social anxiety disorder]."That was the conclusion reached in the paper by Brenna Maddox & Susan White [1] looking at the overlap between autism and SAD in a small-ish participant group. Social anxiety disorder by the way, refers to 'a persistent and overwhelming fear of social situations'. Alongside a growing body of peer-reviewed research talking about the often disabling aspects of anxiety when comorbid to autism (see here), the specific focus on social anxiety disorder is something emerging from the evidence base so far. I've talked about it previously on this blog (see here) although the frequency reported by Maddox & White is quite a bit greater than that noted by Bejerot and colleagues [2].Management is very much implied from such findings given the significant distress and impediment that SAD can cause to an individual. Hopefully not too 'out there' I might also suggest that there may be more than one way that science could help overcome/manage such difficulties (see here) outside of medication and the various manifestations of talking therapy. Insofar as the connection between autism and SAD, further research is of course indicated; including whether, as has been suggested with children with autism, social anxiety might have something of a pivotal role in the success or not of intervention outcome(s) (see here).----------[1] Maddox BB. & White SW. Comorbid Social Anxiety Disorder in Adults with Autism Spectrum Disorder. J Autism Dev Disord. 2015 Aug 5.[2] Bejerot S. et al. Social anxiety in adult autism spectrum disorder. Psychiatry Res. 2014 Dec 15;220(1-2):705-7.----------Maddox BB, & White SW (2015). Comorbid Social Anxiety Disorder in Adults with Autism Spectrum Disorder. Journal of autism and developmental disorders PMID: 26243138... Read more »

  • August 23, 2015
  • 08:00 PM

Courting Disaster

by Angela Reisetter in Steeped in Science

A response to the measles death in the U.S. in July 2015, in defense of vaccination.... Read more »

  • August 23, 2015
  • 03:48 PM

When zebrafish have scoliosis

by Aurelie in Coffee break Science

“Don’t slouch, sit up straight, or you’ll get scoliosis!” Getting this kind of comment from adults used to infuriate me when I was a teenager, since 1) I did sit up straight, and 2) I already had scoliosis (despite all… Continue reading →... Read more »

Patten SA, Margaritte-Jeannin P, Bernard JC, Alix E, Labalme A, Besson A, Girard SL, Fendri K, Fraisse N, Biot B.... (2015) Functional variants of POC5 identified in patients with idiopathic scoliosis. The Journal of clinical investigation, 125(3), 1124-8. PMID: 25642776  

  • August 23, 2015
  • 01:49 PM

Want a better relationship and a better sex life?

by Dr. Jekyll in Lunatic Laboratories

If men take up more of the child-care duties, splitting them equally with their female partners, heterosexual couples have more satisfaction with their relationships and their sex lives, according to new research by sociologists. The group used data from more than 900 heterosexual couples’ responses in the 2006 Marital Relationship Study (MARS).... Read more »

Daniel Fowler et al. (2015) Couples That Split Childcare Duties Have Higher Quality Relationships and Sex Lives . American Sociological Association. info:other/Link

  • August 22, 2015
  • 12:49 PM

Don’t touch that dial: TV’s subliminal influence on women’s perception of pregnancy and birth

by Dr. Jekyll in Lunatic Laboratories

In an era where popular culture is increasingly recognized for its impact on lay understanding of health and medicine, few scholars have looked at television’s powerful role in the creation of patient expectations, especially regarding pregnancy and birth.... Read more »

Danielle Bessett. (2015) As Seen on TV: Women's Views on Television Representations of Pregnancy and Birth. American Sociological Association’s 110th Annual Meeting. info:other/SES-0402165

  • August 22, 2015
  • 05:19 AM

Maternal folate status and offspring autism risk: where are we up to?

by Paul Whiteley in Questioning Answers

I'd like to briefly draw your attention to the review published by Elizabeth DeVilbiss and colleagues [1] today, covering "what is known about the role of folate in the aetiology of neurodevelopmental disorders."Folate, is a topic that has graced this blog a few times with autism in mind (see here for example) based on various ideas that folate status during pregnancy might have the ability to modify offspring risk of autism [2] alongside the idea that autoimmune processes might act on folate receptors in some cases of autism (see here) and what this might subsequently mean for pathology / management. The specific idea that folate levels and folate supplementation during pregnancy might influence autism risk has garnered the most research attention, seemingly also crossing geographies too [3].The DeVilbiss review is quite comprehensive in its scope and material covered, summarising "relevant biological, genetic and epigenetic mechanisms" and the various science that has been done so far on this topic. I would certainly agree with their sentiments that "existing evidence is inconclusive" (as previously indicated) in light of the numerous confounding variables also potentially linked to offspring autism risk. That being said, and acknowledging where folate metabolism sits in terms of areas such as MTHFR genetics (see here) and the whole vitamin B12 story (see here) and perhaps beyond (see here), I do think there is more to see in this area and perhaps outside of autism and related neurodevelopmental conditions (see here). Without jumping on the whole epigenetics bandwagon, the link between the folate cycle and DNA methylation in particular (see here) offers a whole slew of research ideas ripe for further investigation.Music: Lost Frequencies - Are You With Me.----------[1] DeVilbiss EA. et al. Maternal folate status as a risk factor for autism spectrum disorders: a review of existing evidence. Br J Nutr. 2015 Aug 5:1-10.[2] Schmidt RJ. et al. Maternal periconceptional folic acid intake and risk of autism spectrum disorders and developmental delay in the CHARGE (CHildhood Autism Risks from Genetics and Environment) case-control study. Am J Clin Nutr. 2012 Jul;96(1):80-9.[3] Surén P. et al. Association between maternal use of folic acid supplements and risk of autism spectrum disorders in children. JAMA. 2013 Feb 13;309(6):570-7.----------DeVilbiss EA, Gardner RM, Newschaffer CJ, & Lee BK (2015). Maternal folate status as a risk factor for autism spectrum disorders: a review of existing evidence. The British journal of nutrition, 1-10 PMID: 26243379... Read more »

  • August 21, 2015
  • 01:53 PM

Anti-aging tricks from dietary supplement seen in mice

by Dr. Jekyll in Lunatic Laboratories

In human cells, shortened telomeres, the protective caps at the ends of chromosomes, are both a sign of aging and contribute to it. Scientists have found that the dietary supplement alpha lipoic acid (ALA) can stimulate telomerase, the enzyme that lengthens telomeres, with positive effects in a mouse model of atherosclerosis.... Read more »

  • August 21, 2015
  • 12:49 PM

To Avoid Mosquitoes, Stop Breathing and Be Invisible

by Elizabeth Preston in Inkfish

Hungry mosquitoes use an arsenal of sensory tools to hunt you down. They sniff out the carbon dioxide you exhale; they home in on your heat signature. But a previously under-appreciated tool in the mosquito's kit is the same one you use just before slapping at it in horror: vision.

At Caltech, Floris van Breugel put mosquitoes in a wind tunnel to tease apart how they find their meals. He used Aedes aegypti, a tropical species that spreads yellow fever and other diseases. The insects were ... Read more »

van Breugel, F., Riffell, J., Fairhall, A., & Dickinson, M. (2015) Mosquitoes Use Vision to Associate Odor Plumes with Thermal Targets. Current Biology, 25(16), 2123-2129. DOI: 10.1016/j.cub.2015.06.046  

  • August 21, 2015
  • 09:00 AM

TDP-43 differentially splices FNIP1

by Danielle Stevenson in BHD Research Blog

Folliculin interaction protein 1 (FNIP1), through interactions with FLCN, plays a role in a range of cellular processes (Baba et al., 2006). Alternative splicing of FNIP1, under the control of MBNL1, was previously reported in late mesenchymal differentiation (Venables et al., 2013). New research from De Conti et al., (2015) has identified FNIP1 as also being differentially spliced by TDP-43 – a protein associated with neurodegeneration in ALS and fronto-temporal dementia (Neumann et al., 2006).... Read more »

  • August 21, 2015
  • 03:11 AM

Digestive enzymes and autism

by Paul Whiteley in Questioning Answers

"The ASD [autism spectrum disorder] group receiving digestive enzyme therapy for 3 months had significant improvement in emotional response, general impression autistic score, general behavior and gastrointestinal symptoms. Our study demonstrated the usefulness of digestive enzyme in our population of ASD patients."So said the results of a randomised, placebo-controlled clinical trial published by Khaled Saad and colleagues [1] (open-access available here) on the use of a specific digestive enzyme supplementation called Neo-Digestin. Looking at outcomes from about 100 children diagnosed with an ASD (by DSM-IV-TR), about half in receipt of Neo-Digestin (n=47) and half receiving a placebo of sucralose syrup, researchers reported something potentially to see based on CARS (Childhood Autism Rating Scale) scores and another measure called the Global Behavior Rating Scales (GBRS). The GBRS was incidentally used an an outcome measure during one of the trials of secretin with autism in mind [2] so has some history when it comes to pancreatic digestive enzyme functions.Saad et al reported that compared to placebo, the Neo-Digestin group showed some significant positive changes in scores between baseline and intervention albeit restricted to the emotional response aspect of CARS and an overall reduction in autistic behaviours ("general autistic impression score"). Likewise on the GBRS, children in the enzyme supplement group "had significant improvement in two parameters including general behavior and gastrointestinal symptoms (quality of stools, abdominal pain, vomiting and food variety)." Importantly, whilst some side-effects were reported by the enzyme supplement group - "skin rashes, itching and abdominal pain" - we are told that these were mild and transient.As always, these are interesting results. The particular formulation used by Saad and colleagues contained papain (1.6g) and pepsin (0.8g). Given three times a day (15ml/day in all) over the course of the trial, there is some obvious logic in what processes might have been affected by such an intervention with a focus on protein and peptide degradation in the gastrointestinal tract. Think of proteins as long pearl necklaces with each pearl the equivalent of an amino acid (hence the building blocks of proteins). Breaking that long pearl necklace down into smaller chains (peptides) and eventually the constituent amino acids is a prime function of digestive enzymes and has some autism research history (see here). A similar sort of thing has also been proposed by all that CM-AT work, but not necessarily with proteins/peptides in mind (see here). There could be lessons to learn from coeliac disease research in this area too (see here).The Saad results are in direct contrast to the findings reported by Sujeeva Munasinghe and colleagues [3] who observed very little to see in their study of another digestive enzyme supplement with autism in mind. The devil however, could be in the detail in terms of differing formulations and possibly some overlap when it comes to digestive enzymes affecting specific issues such as "improvement in food variety" for example. The focus on gastrointestinal (GI) issues such as functional bowel problems being potentially 'improved' by such preparations is also important given the extensive coverage of such problems being 'over-represented' when it comes to a diagnosis of autism (see here) and the question of what can be done to relieve such symptoms as and when they occur.What's more to say? Well, more studies are of course indicated. As Saad details: "Digestive enzymes are inexpensive, readily available, have an excellent safety profile, and have mildly beneficial effects in ASD patients." I'd perhaps also like to see a few more 'biological' parameters included in any future research on this topic; things like gut permeability measures for example (see here) and perhaps a little more data on the genetics and functioning of endogenous digestive enzyme functions also (see here and see here respectively). That other research has talked about probiotics as degrading gluten peptides too (see here) might also suggest a dual strategy research approach might be of some interest...Music: Hole - Celebrity Skin.----------[1] Saad K. et al. A Randomized, Placebo-controlled Trial of Digestive Enzymes in Children with Autism Spectrum Disorders. Clin Psychopharmacol Neurosci. 2015 Aug 31;13(2):188-93.[2] Levy SE. et al. Children with autistic spectrum disorders. I: comparison of placebo and single dose of human synthetic secretin. Arch Dis Child. 2003 Aug;88(8):731-6.----------Saad K, Eltayeb AA, Mohamad IL, Al-Atram AA, Elserogy Y, Bjørklund G, El-Houfey AA, & Nicholson B (2015). A Randomized, Placebo-controlled Trial of Digestive Enzymes in Children with Autism Spectrum Disorders. Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology, 13 (2), 188-93 PMID: 26243847... Read more »

Saad K, Eltayeb AA, Mohamad IL, Al-Atram AA, Elserogy Y, Bjørklund G, El-Houfey AA, & Nicholson B. (2015) A Randomized, Placebo-controlled Trial of Digestive Enzymes in Children with Autism Spectrum Disorders. Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology, 13(2), 188-93. PMID: 26243847  

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