A gene plays an important role in the growth of children and the date of arrival of puberty, reveals a study published on Wednesday, which shows that people with a mutation in this gene suffer from delays in their development.

This study, published in the journal Nature by a team of British researchers, is interested in the role of a protein, known as MC3R, which acts on the way in which the brain reacts to a hormone, melanocortin.

Slowed growth

This mainly plays a role in the pigmentation of the skin but other functions have been attributed to it in recent years, in particular in the regulation of appetite. We know that another receptor, called MC4R, can promote obesity when it functions poorly because of a genetic defect. On the other hand, we did not know what precise role the MC3R protein plays, and by extension of the gene which encodes it in humans, even if studies on mice already suggested that it played a role in growth.

Ultimately, "humans in whom MC3R signaling is deficient see their growth slowed," say the study's authors.

They first spotted 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 compiling this type of information in the UK for years, as well as data collected by a large prospective study carried out over several decades. by the University of Bristol.

Possible treatments

By making different comparisons with groups of individuals in whom the gene is expressed normally, the researchers established that its mutations were associated with late puberty and slowed growth during childhood.

"We have described a new clinical syndrome linked to a deficiency of MC3R", conclude the authors, who see it as an avenue for treating growth delays in adolescents.

"Our data suggest that MC3R agonists", that is to say treatments that stimulate the action of this protein, "could be useful in certain patients with late puberty and / or short stature", argue -they.

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