Found Rare Mutations That Protect Against Weight Gain

Found Rare Mutations That Protect Against Weight Gain
Found Rare Mutations That Protect Against Weight Gain

An international study, which involved more than 645 thousand people, revealed a rare variant of the gene: it probably provides protection against excess weight gain.


Scientists from New York College of Medicine, Duke and Pennsylvania University (USA), as well as Lund (Sweden), Oxford and the National Autonomous University of Mexico have shown that about one in 2,500 people carry the GPR75 gene mutation. These lucky ones have a 54 percent lower risk of obesity than everyone else. The work was published in the journal Science.

For this, experts conducted a study with the participation of 645 626 people from the United States, Great Britain and Mexico. Efforts have focused not on sequencing every gene in the human genome, but on analyzing the so-called exome - the part of the genome that is exons, that is, sequences that are transcribed into messenger RNA after introns are removed during RNA splicing. In other words, exons are parts that act as instructions for proteins. This means that sequencing can identify mutations in the protein-coding regions of any gene.

Using this method, experts identified 16 genes that were associated with both exon mutations and human weight. Of all the mutations, variations in the GPR75 gene had the greatest impact on body mass index. People with mutations that inactivated only one copy of this gene weighed an average of 5.3 kilograms less than the rest.

Moreover, experiments on mice showed similar results. When animals lacked a single copy of this gene, they gained 25 percent less weight than their counterparts with a fully functioning GPR75. If the rodents lacked both copies, they lost 44 percent in weight. Nevertheless, the authors believe that further research is needed for definitive conclusions.

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