Lizzie Perdeaux

165 posts · 56,365 views

BHD Research Blog
165 posts

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  • September 26, 2014
  • 02:53 AM
  • 74 views

Telomere shortening may cause genetic anticipation in VHL syndrome

by Lizzie Perdeaux in BHD Research Blog

Genetic anticipation describes the situation where younger generations of a family with a genetic disease develop symptoms at a younger age, develop more severe symptoms, or both. A study earlier this year showed that there is evidence of genetic anticipation … Continue reading →... Read more »

  • September 19, 2014
  • 05:06 AM
  • 99 views

Air travel may cause pneumothorax in BHD patients

by Lizzie Perdeaux in BHD Research Blog

One concern many BHD patients have is whether it is safe to take commercial flights, or whether this would increase the chances of a pneumothorax. A recently published study, by Professor Pieter Postmus and his team at the VU Medical … Continue reading →... Read more »

Postmus PE, Johannesma PC, Menko FH, & Paul MA. (2014) In-Flight Pneumothorax: Diagnosis May Be Missed because of Symptom Delay. American journal of respiratory and critical care medicine, 190(6), 704-5. PMID: 25221882  

  • September 12, 2014
  • 04:38 AM
  • 99 views

Survivorship is an increasingly important component of cancer care

by Lizzie Perdeaux in BHD Research Blog

A cancer survivor is defined as anyone who is living with cancer, or whose cancer has gone into remission. Traditionally cancer care has concentrated on diagnosing and treating the disease, and comparatively little support has been given to patients once … Continue reading →... Read more »

  • September 5, 2014
  • 04:49 AM
  • 90 views

FLCN modulates autophagy via its interactions with GABARAP and ULK1

by Lizzie Perdeaux in BHD Research Blog

A number of studies have suggested that FLCN regulates autophagy, although precisely how was unknown. A recent study by Dr Elaine Dunlop and Dr Andy Tee from Cardiff University report that FLCN regulates autophagy through interactions with GABARAP and ULK1. … Continue reading →... Read more »

Dunlop EA, Seifan S, Claessens T, Behrends C, Kamps MA, Rozycka E, Kemp AJ, Nookala RK, Blenis J, Coull BJ.... (2014) FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation. Autophagy, 10(10). PMID: 25126726  

  • August 29, 2014
  • 09:09 AM
  • 97 views

Folliculin function is highly cell-specific

by Lizzie Perdeaux in BHD Research Blog

Whilst trying to elucidate the role of FLCN, a number of studies have reported opposing results. FLCN has been shown to both activate and inhibit mTOR signalling, AMPK signalling and RhoA signalling and to both potentiate and abrogate cell-cell adhesion. … Continue reading →... Read more »

Khabibullin D, Medvetz DA, Pinilla M, Hariharan V, Li C, Hergrueter A, Laucho Contreras M, Zhang E, Parkhitko A, Yu JJ.... (2014) Folliculin regulates cell-cell adhesion, AMPK, and mTORC1 in a cell-type-specific manner in lung-derived cells. Physiological reports, 2(8). PMID: 25121506  

  • August 15, 2014
  • 02:00 AM
  • 56 views

Guidelines for HLRCC kidney cancer risk, surveillance and treatment published

by Lizzie Perdeaux in BHD Research Blog

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare kidney cancer susceptibility syndrome caused by autosomal dominant mutations in the FH gene. The three main symptoms of HLRCC are red skin papules called cutaneous piloleiomyomas; multiple early-onset uterine leiomyomas; … Continue reading →... Read more »

  • August 8, 2014
  • 05:54 AM
  • 104 views

Doctors should consider germline genetic testing in kidney cancer patients under 46

by Lizzie Perdeaux in BHD Research Blog

It is estimated that between 5 and 8% of kidney cancers are hereditary (Linehan et al., 2010). There are several clues that help clinicians diagnose these cases: patients who present with multifocal and/or bilateral tumours; who have a family history … Continue reading →... Read more »

Shuch B, Vourganti S, Ricketts CJ, Middleton L, Peterson J, Merino MJ, Metwalli AR, Srinivasan R, & Linehan WM. (2014) Defining early-onset kidney cancer: implications for germline and somatic mutation testing and clinical management. Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 32(5), 431-7. PMID: 24378414  

  • August 1, 2014
  • 06:26 AM
  • 194 views

Investing in cancer research pays off

by Lizzie Perdeaux in BHD Research Blog

In the UK, a significant amount of medical research funding – an estimated £2.9 billion in 2012/13 – comes from the public purse through taxes and charitable donations, or from the Wellcome Trust, so it is important to see whether … Continue reading →... Read more »

  • July 25, 2014
  • 10:07 AM
  • 182 views

BHD causes pneumothoraces during childhood in rare cases

by Lizzie Perdeaux in BHD Research Blog

Birt-Hogg-Dubé Syndrome is caused by inactivating mutations in the FLCN gene, characterised by skin lesions on the face and upper body; lung cysts and predisposition to pneumothorax; and kidney cancer. Although symptoms typically appear in the third and fourth decade … Continue reading →... Read more »

Johannesma PC, van den Borne BE, Gille JJ, Nagelkerke AF, van Waesberghe JT, Paul MA, van Moorselaar RJ, Menko FH, & Postmus PE. (2014) Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients. BMC pediatrics, 171. PMID: 24994497  

  • July 18, 2014
  • 03:00 AM
  • 59 views

Intratumoral peripheral small papillary tufts might be a diagnostic clue of BHD

by Lizzie Perdeaux in BHD Research Blog

Contrary to other hereditary kidney cancer conditions, BHD-associated renal tumours are known to be histologically diverse and discordant within families, meaning that members of the same family do not necessarily get the same type of kidney tumour (Pavlovich et al., … Continue reading →... Read more »

Kuroda N, Furuya M, Nagashima Y, Gotohda H, Moritani S, Kawakami F, Imamura Y, Bando Y, Takahashi M, Kanayama HO.... (2014) Intratumoral peripheral small papillary tufts: a diagnostic clue of renal tumors associated with Birt-Hogg-Dubé syndrome. Annals of diagnostic pathology, 18(3), 171-6. PMID: 24767893  

  • July 11, 2014
  • 04:53 AM
  • 144 views

FLCN is important for cardiomyocyte development

by Lizzie Perdeaux in BHD Research Blog

Cardiac hypertrophy is an adaptive response that occurs following increased stress on the heart wall, and can be caused by strenuous exercise, hypertension, heart attack or heart valve disease. In some cases, this can lead to heart failure. Although the … Continue reading →... Read more »

Hasumi Y, Baba M, Hasumi H, Huang Y, Lang M, Reindorf R, Oh HB, Sciarretta S, Nagashima K, Haines DC.... (2014) Folliculin (Flcn) inactivation leads to murine cardiac hypertrophy through mTORC1 deregulation. Human molecular genetics. PMID: 24908670  

  • July 4, 2014
  • 05:10 AM
  • 176 views

Public awareness of cancer and federal funding of research in the US is affected by how cancer is reported in the American media

by Lizzie Perdeaux in BHD Research Blog

The link between having a good understanding of your health and of disease (health literacy) and health outcomes is well documented (Berkman et al., 2011). However, access to accurate and unbiased information is required for the public to be able … Continue reading →... Read more »

  • June 27, 2014
  • 03:00 AM
  • 150 views

FNIP1 is required for iNKT cell maturation

by Lizzie Perdeaux in BHD Research Blog

In 2012, two independent studies found that the FLCN-interacting protein FNIP1 is required for proper β-cell maturation, and were the first studies to suggest a role for FLCN and its partners in the immune system. Following their 2012 discovery that … Continue reading →... Read more »

Park H, Tsang M, Iritani BM, & Bevan MJ. (2014) Metabolic regulator Fnip1 is crucial for iNKT lymphocyte development. Proceedings of the National Academy of Sciences of the United States of America, 111(19), 7066-71. PMID: 24785297  

  • June 20, 2014
  • 07:00 AM
  • 100 views

Topical Rapamycin might not be an effective treatment for fibrofolliculomas

by Lizzie Perdeaux in BHD Research Blog

Last week, the results of a clinical trial testing the effectiveness of topical rapamycin as a treatment for BHD were published in PLOS ONE (Gijezen et al., 2014). The study was performed by Professor Dr Maurice van Steensel’s team at the Maastricht … Continue reading →... Read more »

  • June 13, 2014
  • 04:51 AM
  • 192 views

The three Rs of animal research: replacement, refinement, reduction

by Lizzie Perdeaux in BHD Research Blog

Following on from last week’s blog discussing animal research, this week’s blog discusses the work of the National Centre for the Replacement, Refinement & Reduction of Animals in Research (NC3Rs). But before discussing how NC3Rs are reducing the numbers of … Continue reading →... Read more »

Huch M, Dorrell C, Boj SF, van Es JH, Li VS, van de Wetering M, Sato T, Hamer K, Sasaki N, Finegold MJ.... (2013) In vitro expansion of single Lgr5 liver stem cells induced by Wnt-driven regeneration. Nature, 494(7436), 247-50. PMID: 23354049  

Huh D, Leslie DC, Matthews BD, Fraser JP, Jurek S, Hamilton GA, Thorneloe KS, McAlexander MA, & Ingber DE. (2012) A human disease model of drug toxicity-induced pulmonary edema in a lung-on-a-chip microdevice. Science translational medicine, 4(159). PMID: 23136042  

  • June 6, 2014
  • 02:30 AM
  • 188 views

Understanding Animal Research

by Lizzie Perdeaux in BHD Research Blog

A 2012 IPSOS Mori poll showed that although UK public support for the use of animals in medical research was high at 85%, support had fallen slightly from previous years.  Additionally, two thirds of respondents felt they were not well … Continue reading →... Read more »

Hendrickx AG, Axelrod LR, & Clayborn LD. (1966) 'Thalidomide' syndrome in baboons. Nature, 210(5039), 958-9. PMID: 4960026  

Homburger F, Chaube S, Eppenberger M, Bogdonoff PD, & Nixon CW. (1965) Susceptibility of certain inbred strains of hamsters to teratogenic effects of thalidomide. Toxicology and applied pharmacology, 7(5), 686-93. PMID: 5866808  

Smithells RW. (1973) Defects and disabilities of thalidomide children. British medical journal, 1(5848), 269-72. PMID: 4631040  

  • May 30, 2014
  • 05:24 AM
  • 194 views

FLCN protects cells from tumorigenic metabolic transformation by directly binding, and thus inhibiting, AMPK

by Lizzie Perdeaux in BHD Research Blog

A study recently published in the Journal of Clinical Investigation draws together a number of earlier observations of how FLCN functions: that FLCN binds AMPK via the FNIPs, that loss of FLCN leads to HIF hyperactivity and metabolic transformation, and … Continue reading →... Read more »

Yan M, Gingras MC, Dunlop EA, Nouët Y, Dupuy F, Jalali Z, Possik E, Coull BJ, Kharitidi D, Dydensborg AB.... (2014) The tumor suppressor folliculin regulates AMPK-dependent metabolic transformation. The Journal of clinical investigation. PMID: 24762438  

  • May 23, 2014
  • 05:20 AM
  • 123 views

Loss of FLCN leads to constitutive AMPK activation, increased autophagy and stress resistance in C. elegans

by Lizzie Perdeaux in BHD Research Blog

As discussed on this blog previously, dysregulated autophagy seems to be a common feature of many hereditary kidney cancers. A study from Professor Arnim Pause’s laboratory at McGill University in Canada has shown that the loss of FLCN leads to … Continue reading →... Read more »

Possik E, Jalali Z, Nouët Y, Yan M, Gingras MC, Schmeisser K, Panaite L, Dupuy F, Kharitidi D, Chotard L.... (2014) Folliculin regulates ampk-dependent autophagy and metabolic stress survival. PLoS genetics, 10(4). PMID: 24763318  

  • May 16, 2014
  • 02:40 AM
  • 149 views

FLCN is necessary for the survival and function of Type II alveolar epithelial cells

by Lizzie Perdeaux in BHD Research Blog

Roughly 90% of BHD patients develop lung cysts, which are thought to also cause spontaneous pneumothorax in 1 in 4 BHD patients (Houweling et al., 2011, Predina et al., 2011). However, although lung cysts are a highly penetrant symptom of … Continue reading →... Read more »

Goncharova EA, Goncharov DA, James ML, Atochina-Vasserman EN, Stepanova V, Hong SB, Li H, Gonzales L, Baba M, Linehan WM.... (2014) Folliculin Controls Lung Alveolar Enlargement and Epithelial Cell Survival through E-Cadherin, LKB1, and AMPK. Cell reports, 7(2), 412-23. PMID: 24726356  

  • May 9, 2014
  • 03:00 AM
  • 135 views

Lysosome dysregulation may be a shared feature of some kidney cancers

by Lizzie Perdeaux in BHD Research Blog

Lysosomes are enzyme-containing organelles that break down macromolecules in order to recycle their components and maintain cellular homeostasis. Lysosome dysfunction can cause an array of diseases, including Gaucher’s Disease, Niemann Pick Disease and even some cancers (Appelqvist et al., 2013). … Continue reading →... Read more »

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