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Mutation in Gene KSR2 Associated with Slower Metabolism, Obesity; Cambridge Study [Video]

Oct 25, 2013 07:50 AM EDT

Some people are born with genetic mutations that slow their metabolism rates, a new study from Cambridge found. Slower metabolic rate leads to severe obesity.

The genetic mutation discovered by University of Cambridge researchers is quite rare. However, this is the first time scientists have been able to find genes that slow down metabolism and affect calorie processing.

Previous research conducted on mouse models had found that mice lacking KSR2 gene gained weight more easily than others.

The team, led by Sadaf Farooqi, looked at DNA sequence from over 2,000 severely obese patients. They found several mutations in the gene KSR2.

KSR2 is from the class of scaffolding proteins, which make sure that the cells are processing signals from hormones such as insulin. The latest study found that mutations in these genes led to disruption of a critical pathway, which disabled the cell and hindered the breakdown of glucose and fatty acids.

The genetic mutations cause a double whammy; it slows down metabolism and increases appetite. This increase leads to the body storing more fat, BBC reported.

Researchers even conducted tests to ensure that the thyroid was functioning properly. In some people, a poor thyroid system often leads to obesity. However, the participants in the study had a normal thyroid system.

"Up until now, the genes we have identified that control body weight have largely affected appetite. However, KSR2 is different in that it also plays a role in regulating how energy is used in the body. In the future, modulation of KSR2 may represent a useful therapeutic strategy for obesity and type 2 diabetes," Farooqi said in a news release.

The study is published in the journal Cell.


Obesity can raise risk of chronic conditions such as heart disease, diabetes, stroke, arthritis and even some cancers. According to estimates by Centers for Disease Control and Prevention, a third of all people living in the U.S are obese.

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