MC3R controls growth and puberty onset
A new study in Nature identifies the melanocortin receptor MC3R as a key mediator of pubertal timing, childhood growth and body composition.
This paper explores the role of the melanocortin receptor MC3R in controlling growth and puberty onset. The researchers used human embryonic kidney cells to test the ability of three deleterious variants to produce cAMP in vitro. They found that the MC3R variants with the most pronounced deficiency in cAMP signalling resulted in a greater delay in puberty and shorter stature in both women and men. The study confirms a 'dose–response' relationship between MC3R functionality and the control of growth and puberty onset, as evidenced by a case of an individual with complete loss of function of MC3R who was of extremely short stature and did not start puberty until his early 20s.