Rare genetic mutation made Egyptian Eman the heaviest, says study
Egyptian Eman Ahmed, 36, who is in Mumbai for weight-reduction surgery, could be the first and only person in the world with a rare gene defect that causes severe obesity. A gene study revealed that a mutation in the gene which instructs a protein involved in the regulation of body weight, was causing the weight gain.
The genetic study, conducted by Core Diagnostics, to analyse 91 kinds of genes, isolated with obesity related syndromes was analysed by physicians and metabolism experts in USA, UK and India. Dr Muffazal Lakdawala, Eman’s treating doctor and bariatric surgeon at Saifee Hospital said Eman’s case is a medical miracle since patients suffering from monogenic disorders don’t usually cross adolescence. “Leptin hormone comes from fat tissues and signals the brain about depleting fat stores. In Eman’s case, the defective docking station in the brain that leptin plugs into doesn’t receive any signals. As a result, Eman’s brain has perceived that she is constantly starving and that led her to constantly feel hungry, eat food, store it as fat and conserve energy,” said Dr Lakdawala.
While two major gene defects were diagnosed, the cause of Eman’s obesity is a mutation in the leptin receptor protein (LEPR) gene. “The variant has been previously detected in one individual in research setting by Personalized Diabetes Medicine Program, University of Maryland School of Medicine, and has been classified as a variant of uncertain significance (VUS). However, in Eman’s case this has assumed pathologic consequences leading to her obesity. Eman is the only one in the world with this gene defect causing obesity,” said doctors from the hospital.
Mutations in this gene have been associated with an autosomal recessive disorder causing obesity and pituitary dysfunction. Leptin receptor deficiency leads to a disorder which is associated with excessive hunger, massive weight gain, and reduced production of hormones that direct sexual development. There is currently no specific treatment for this condition. However, a drug called MC4R Agonist, only available with one pharmaceutical company in the US, might help Eman. “The drug has been tested on three paediatric patients and Eman will be the only adult case if she undergoes treatment. The plan is to track her weight loss for six months and then take a call on changing the line of treatment once her condition stabilises,” added Dr Lakdawala.
Doctors said the drugs may be able, at least partially, bypass the signaling block in the brain but it’s too early to say if there will be a successful outcome. “So if she has access to these drugs and they are effective then we have a solution. If not, then she may need a more radical surgery which causes malabsorption (process in which intestine can’t adequately absorb certain nutrients into the bloodstream,” said a doctor.
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