Previous studies had shown that mutation in genes responsible for brain receptors known as MC4R lead to obesity in humans. — Picture by ChristinaFelsing/IStock.com via AFP-Relaxnews
NEW YORK, Nov 4 – Scientists have identified a gene mutation that affects the brain’s ability to sense a body’s nutrition and can impact childhood growth and delay puberty, a study said yesterday.
Average human height has increased over time with greater access to food.
By identifying the gene responsible for the brain receptor known as MC3R, scientists may have uncovered one of the reasons behind this trend.
Analysing data from 500,000 participants in the UK Biobank biomedical research database, they identified a few thousand carrying rare natural mutations in the gene responsible for MC3R receptors.
The study published in Nature shows those individuals were on average shorter and hit puberty later than people without the mutation.
“MC3R deficiency is… associated with reduced childhood growth, adult height and lean mass” the study concludes, noting that the effects are greater the more severe the dysfunction.
Previous studies had shown that mutation in genes responsible for brain receptors known as MC4R lead to obesity in humans.
While studies in mice had suggested MC3R played a role in development, it was not clear how this worked in humans.
“Analysis of the MC3R gene should become part of the routine genetic analysis of patients with delayed puberty, short stature,” the study says.
It concludes that medically stimulating MC3R receptors might be a potential treatment for delayed puberty, short stature and a condition associated with chronic illness that affects muscle mass known as sarcopenia. – ETX Studio