Published in the magazine Nature by a team of British researchers, this study examines the role of a protein, known as MC3R, which acts on the way the brain reacts to a hormone, melanocortin.
It plays a major role in skin pigmentation, but in recent years other functions have been attributed to it, particularly in regulating appetite. We know that another receptor, called MC4R, can promote obesity when it malfunctions due to a genetic abnormality.
Furthermore, the precise role of the MC3R protein and, by extension, the gene that encodes it in humans was not known, even if studies in mice already suggested that it played a role in growth.
In short, “humans in whom MC3R signaling is deficient see their growth slower,” say the study authors.
The researchers first looked at a few thousand British patients in whom this gene had mutated. To do this, they used a large biological database, UK Biobank, an organization that has been collecting this type of information in the United Kingdom for years, as well as data collected by a large prospective study carried out over several decades by the University of Bristol.
By making several comparisons with groups of individuals in which the gene is normally expressed, the researchers established that these mutations were associated with late puberty and slower growth during childhood.
“We have described a new clinical syndrome linked to an MC3R deficiency,” conclude the authors, who see these results as a clue to treating growth retardation in adolescents.
“Our data suggest that MC3R agonists, that is, treatments that stimulate the action of this protein, could be useful in certain patients with delayed puberty and / or short stature“, they explain.