30 March,2017 01:20 PM IST | | Rupsa Chakraborty
Egyptian national Eman Ahmed Abdulati, who was once touted to be the heaviest woman at 500 kg, has a rare gene defect, LEPR mutation, which contributed to her weight gain
Egyptian national Eman Ahmed Abdulati currently weighs 340 kg
The mystery behind Eman Ahmed Abdulati's massive weight gain has finally been solved. The Egyptian national, who was once touted to be the heaviest woman at 500 kg, has a rare gene defect, LEPR mutation - reportedly making her the first person in the world whose obesity has been attributed to it. The LEPR gene provides instructions for making a protein called the leptin receptor, which is involved in the regulation of body weight. Any mutation in it causes excessive hunger.
A first
Charni Road-based Saifee Hospital, which is treating Eman, on Wednesday received results of 36 gene tests conducted in the US, which revealed two genetic disorders: the LEPR gene defect, and SDCCAG8 gene defect. The SDCCAG8 defect causes Bardet Biedl syndrome (a rare, genetic multi-system disorder characterised primarily by deterioration of the cells) and Senior-Loken syndrome (a renal-retinal disorder), both of which cause weight gain. But, it's the LEPR mutation that is largely responsible for most of the weight gain om Eman, said Dr Muffazal Lakdawala, noted bariatric surgeon who is treating her. "Eman is the first patient in the world in whom the mutation is responsible for weight gain," he said.
The variant of the LEPR defect that Eman suffers from was previously detected only in one individual during research, but it was found to have no effect then.
No treatment
There is no specific treatment for this genetic defect. "The bariatric surgery that she has had may have some beneficial effect, but it does not deal with the underlying problem. New drugs are being developed which may hold some promise, but it is too early to say. She may need a more radical surgery," said Dr Shehla Shaikh, consultant endocrinologist at Saifee Hospital.
Dr Muffazal Lakdawala
Since her surgery on March 7, Eman has lost over 40 kg. She currently weighs 340 kg.
Key regulator
Protein leptin receptor regulates body weight. It is found on the surface of cells in many organs and tissues, including the hypothalamus (a part of the brain). The hypothalamus controls hunger and thirst as well as sleep, mood and body temperature. It also regulates the release of many hormones.
