Mc4r mutations cause familial obesity

4% of patients with familial obesity have mutations in the melanocyte stimulating hormone (MSH) receptor Mc4r.

MSH is an important neurotransmitter in the pathway by which leptin regulates body weight.

Reference:

• 1) Farooqi, IS, Yeo, GS, et al. Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency. J Clin Invest, 2000, 106, 271-79.