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Christian Vaisse, MD, PhD
Genetics of Metabolic Diseases
Selected Publications | Complete Publications

phone
(415) 514-0530
email
vaisse@diabetes.ucsf.edu
additional
websites

PSPG Graduate Program
The Diabetes Center

secondary
research affiliation

Tissue/Organ Biology & Endocrinology
The overall goal of this laboratory is to identify genetic defects implicated in the onset and progression of multi-factorial metabolic diseases such as obesity and diabetes. Our strategy combines human genetic approaches with molecular biology and animal studies. We are currently concentrating our research on the molecular mechanisms implicated in the hypothalamic effects of the adipocyte secreted, weight regulating hormone, leptin. After describing the first leptin receptor mutation in severely obese humans, we recently found that genetic alterations in the Melanocortin 4 receptor (MC4R), a mediator of the hypothalamic effects of leptin, are responsible for a more common form of human obesity. Using large scale automated screening procedures we now further investigate the frequency of mutations in the MC4R gene in large cohorts of obese patients. In parallel we also search for obesity causing mutations in additional candidate genes downstream the leptin pathway. Finally, both through in vitro and in vivo studies we are aiming to understand how these mutations cause obesity and what the implications are for the treatment of this condition.

Selected Publications

Srinivasan S., Lubrano-Berthelier C., Govaerts C., Picard F., Santiago P, Conklin B., & Vaisse C. (2004) Constitutive activity of the melanocortin-4 receptor is maintained by its N-terminal domain and plays a role in energy homeostasis in humans. Journal of Clinical Investigation 114:1158-1164

Mauvais-Jarvis F, Smith S.B., Le May C., Leal S.M., Gautier J.-F. Rajan A., Virally M., Kevorkian J.-P., Zhang S., Riveline J.-P, Charpentier G., Vexiau P., German M.S. & Vaisse C. (2004) PAX4 Gene variations Predispose to Ketosis prone Diabetes. Human Molecular Genetics (Vol 13, Issue24)

Picard F., Robin S., Lavielle M., Vaisse C.& Daudin J-J. (2005) A statistical approach for CGH microarray data analysis. BMC Bioinformatics 11;6(1):27

Elefetriou F., Ahn J.D., Takeda S., Starbuck M, Xiangli Y, Liu X, Kondo H., Richards W.G., bannon T.W., Noda M., Clement K., Vaisse C., & Karsenty G. (2005) Leptin regulation of bone resorption by the sympathetic nervous system and CART. Nature 434:514-20

Swarbrick M.M.,Waldenmaier B., Pennacchio L.A., Cavazos M.M., Geller F., Lind D.L., Merriman R., Ustaszewska A., Rief W., Mauvais-Jarvis F., Pullinger C.R., Kane J.P., Dent R., Kwok P.Y., McPherson R, Hinney A., Hebebrand J. & Vaisse C. (2005) Lack of Support for the Association Between GAD2 Polymorphisms and the Predisposition to Severe Human Obesity. PLoS Biology 3:e315

information last updated September 2005

Featured Paper
Vaisse Lab
Constitutive activity of the melanocortin-4 receptor is maintained by its N-terminal domain and plays a role in energy homeostasis in humans. Journal of Clinical Investigation 114:1158-1164
download the paper


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