CHICAGO, Nov. 4 (Xinhua) -- Centering on the melanocortin 3 receptor (MC3R), a member of a family of proteins that have long been known to play central roles in metabolism and energy balance, a study has identified how the protein in the brain uses information about the body's energy balance to regulate growth rate and the onset of puberty in children.

Using data from UK Biobank and the Avon Longitudinal Study of Parents and Children, the research team led by Stephen O'Rahilly of the University of Cambridge analyzed the phenotypes in volunteers with mutations in one copy of the gene that encodes the MC3R. These individuals displayed shorter body height and reduced lean mass compared with those who had no MC3R mutations.

"In terms of melanocortins, every phenotype that we have observed in the mouse has ultimately been found to be replicated in humans," said Roger Cone, director of the University of Michigan (UM) Life Sciences Institute and an author of the new study.

Additionally, O'Rahilly discovered one new phenotype in people with MC3R mutations: a long delay in the onset of puberty in the patient lacking MC3R, and subtle but significant delays in volunteers from the UK Biobank with mutations in only one copy of the gene.

New data generated by Cone's lab and collaborator Richard Simerly at the Vanderbilt School of Medicine verify this effect and also argue that MC3R plays a role in communicating nutritional deprivation to the reproductive axis.

When mice are fasted for 24 hours, the MC3R detects the lack of energy stores in the body and relays that information to the part of the brain that regulates reproductive cycles. In normal mice, the reproductive cycles halt until energy stores return to normal, post-fasting. In mice with no MC3R, however, there is no change to the reproductive axis following fasting, indicating that communication about the energy balance has stopped.

The research was published Wednesday in the journal Nature. Enditem

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