263 posts · 154,450 views
BHD Research Blog is the official blog of BHDSyndrome.org, the primary online resource for anyone interested in Birt-Hogg-Dubé Syndrome, a rare genetic condition linked to benign skin growths, collapsed lung and kidney cancers. In the BHD Research Blog, we focus on analysing current research in BHD and related fields, as well as considering wider issues relating to rare diseases.
Von Hippel–Lindau (VHL) disease is caused by a germline mutation in the VHL gene that leads to the development of several tumors including clear cell renal cell carcinoma (ccRCC) (Maher and Kaelin, 1997). ‘Clear cell’ tumors are characterized by large, proliferating epithelial cells with clear cytoplasm, and a reduced number of cilia. VHL inactivation leads to the stabilization of hypoxia inducible factors 1a and 2a (HIF1a and HIF2a) that leads to up-regulation of genes involve........ Read more »
Noonan HR, Metelo AM, Kamei CN, Peterson RT, Drummond IA, & Iliopoulos O. (2016) Loss of vhl in the zebrafish pronephros recapitulates early stages of human clear cell renal cell carcinoma. Disease models , 9(8), 873-84. PMID: 27491085
As mentioned in last week’s blog, the International Rare Lung Diseases Research Conference (RLDC) was held in Cincinnati, USA, 22nd-25th September. Clinicians, scientists, patient organizations, patients and families were brought together to discuss research and clinical trials in rare lung disease and to promote dialogue between the research community and patients.... Read more »
McCormack FX, Inoue Y, Moss J, Singer LG, Strange C, Nakata K, Barker AF, Chapman JT, Brantly ML, Stocks JM, Brown KK, Lynch JP 3rd, Goldberg HJ, Young LR, Kinder BW, Downey GP, Sullivan EJ, Colby TV, McKay RT, Cohen MM, Korbee L, Taveira-DaSilva AM, Lee . (2011) Efficacy and Safety of Sirolimus in Lymphangioleiomyomatosis. New England Journal of Medicine, 365(3), 271-272. DOI: 10.1056/NEJMc1106358
Obesity is often associated with decreases in the proportion of skeletal muscle slow-twitch fibers and insulin sensitivity. Slow-twitch fibers are rich in mitochondria and utilize fatty acid oxidative phosphorylation for energy production. In their new study, Zhou et al. (2017) explore the role of the FLCN/FNIP1/AMPK signalling pathway in obesity-induced reductions in slow-twitch fibers and insulin sensitivity in skeletal muscle using high-fat-diet-induced (HFD) obese mice, ob/ob mutant mice, an........ Read more »
Zhou Q, Gu Y, Lang H, Wang X, Chen K, Gong X, Zhou M, Ran L, Zhu J, & Mi M. (2017) Dihydromyricetin prevents obesity-induced slow-twitch-fiber reduction partially via FLCN/FNIP1/AMPK pathway. Biochimica et biophysica acta. PMID: 28363698
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