One-in-the-world gene to blame for Eman's obesity
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A one-in-the-world genetic mutation is responsible for Egyptian woman Eman Ahmed's weight. Results of Eman's gene study analyzing 91 different types of genes related to obesity, found that she has a mutation in the LEPR gene (the c.1055G>A, p.(Cys352Tyr) variant). She has another genetic mutation, but it isn't contributing to her obesity. The gene controls hormone leptin which is better known as the 'satiety hormone'. Because of the leptin receptor deficiency from early life, Eman's brain has perceived that she is constantly starving. That has led her to constantly seek food, store it avidly in her body as fat and conserve energy.

Experts from the Universities of Washington and Cambridge consulted for Eman's diagnosis said this LEPR gene variant was previously detected in an American who didn't have any leptin deficiency disease. While this patient had the mutation in only of the LEPR genes (genes always in pairs), Eman has it in both. Such mutations are usually seen in people born of consanguineous marriages. Eman's parents were first cousins, said the Saifee Hospital doctors.

While Eman's bariatric surgery has had some beneficial effects, it would not help deal with the underlying problem. The team is now seeking to enrol her in a global clinical trial to tackle the leptin receptor problem. This trial can begin only after six months as she has undergone bariatric surgery .

http://epaperbeta.timesofindia.com/Article.aspx?eid=31804&articlexml=One-in-the-world-gene-to-blame-for-30032017009019
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