Christian Vaisse,
M.D., Ph.D.
Associate Professor of Medicine

Contact Information:
vaisse@medicine.ucsf.edu
Tel: (415) 514-0530
Fax: (415) 564-5813
HSW-1113, Box 0540

Links:
Biomedical Sciences

Publications:
Selected
Complete

Genetics of Metabolic Diseases

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:
Vaisse C., Clément K., Guy-Grand B., Froguel P. (1998) A Frameshift mutation in human melanocortin-4 receptor results in a dominant form of obesity. Nature Genetics 20:113-114

Clément K*, Vaisse C*, Lahlou N, Cabrol S, Pelloux V, Cassuto D, Gourmelen M, Dina C, Chambaz J, Lacorte J-M, Basdevant A, Bougnères P, Lebouc Y, Froguel P & Guy-Grand B.(1998): Severe obesity and hypothalamic pituitary dysfunction in a family with a mutation in the leptin receptor gene. Nature 392:398-400

Vaisse C , Halaas J.L., Horvath C.M., Darnell J.E.Jr., Stoffel M., Friedman J.M. (1996) Leptin activation of Stat3 in hypothalamus of wild type and ob/ob mice but not db/db mice. Nature Genetics 14:95-97.