-- Robert Preidt
THURSDAY, July 18 (HealthDay News) -- A rare genetic mutation
linked to severe obesity has been identified by researchers who
conducted experiments in mice and genetic analyses of people.
The team at Boston Children's Hospital found that mice with the
genetic mutation in the Mrap2 gene gained weight even though they
ate the same amount of food as mice without the mutation. The gene
appears to be involved in regulating metabolism and food
consumption, the researchers said.
"These mice aren't burning the fat, they're somehow holding onto it," lead investigator Dr. Joseph Majzoub, chief of endocrinology at Boston Children's, said in a hospital news release. "Mice with the genetic mutation gained more weight, and we found similar mutations in a [group] of obese humans."
For the study, the researchers conducted genetic analyses of 500
people around the world. They found mutations in the human
equivalent of Mrap2 (MRAP2) in four people with severe, early onset
obesity. Each of the four patients had only one copy of the
mutation, according to the study in the July 19 issue of the
The finding suggests that these rare mutations might directly
cause obesity in less than 1 percent of obese people. But other
mutations in the MRAP2 gene may be more common and might interact
with other mutations and environmental factors to cause more common
forms of obesity, the study authors said.
Further investigation into how these mutations work may improve
knowledge about the body's mechanisms for energy storage and use,
the researchers noted in the news release.
The U.S. National Heart, Lung, and Blood Institute has more
overweight and obesity.
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