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Rare gene defect behind Eman's weight woes

This report makes her only the second person in the world to be detected with the disorder

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Eman Ahmed
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Eman Ahmed's gene test reports, which arrived Wednesday from a United States diagnostic laboratory, revealed a rare genetic disorder to be the cause of her obesity. This report makes her only the second person in the world to be detected with the disorder.

The US branch of CORE Diagnostics studied 91 types of genes isolated for the obesity related syndrome, and identified a variant of homozygous missense in the LEPR gene, as the reason for her weight gain.

This variant has been detected in only one other individual in a research setting by Personalized Diabetes Medicine Program, University of Maryland School of Medicine, US. However, in the case of this research participant, it didn't lead to issues as pronounced as those seen in Eman's case. She happens to be the only one in the world with this gene defect causing obesity.

Another gene defect identified was SDCCAG8m associated with phenotype Bardet Biedl syndrome and Senior Loken syndrome. Doctors though don't believe that it played a big role in her obesity.

Wednesday evening, the doctors treating Eman's at Saifee Hospital explained in a statement that, "A hormone called leptin comes from fat tissue and tells the brain when fat stores are being depleted. In Eman's case, the docking station in the brain that leptin plugs into seems defective, and doesn't receive the signals. Due to this, the patient's brain perceives that she is constantly starving."

Doctors say that there is no permanent solution for Eman's condition, who now weighs 350 kg following a laparoscopic sleeve gastrectomy surgery.

"The surgery may have some beneficial effects but it does not deal with the underlying problem. New drugs are being developed, which could help her, but they are in very early stages of development. Or she may need a more radical surgery which causes mal-absorbption a little later in life," the statement said.

Eman Ahmed, who held the world's heaviest woman title when she weighed 500 kg, arrived in Mumbai from Alexandria, Egypt, in February. A team of doctors lead by bariatric surgeon Dr

Muffazal Lakdawala have been treating the 36-year-old since. After losing the first 100 kg with the aid of medication, she underwent a laparoscopic sleeve gastrectomy at Saifee Hospital on March 7.

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