“Tests Say Eman Ahmed Happens To Be The Only One In The World With This Rare Gene Defect Causing Obesity”
The much-awaited gene studies of Ms. Eman Ahmed are finally out, proving to be the cause of her obesity. Ms. Eman Ahmed who currently weighs 340* kgs. has been under the care of a team of super specialists at Saifee Hospital lead by Dr. Muffazal Lakdawala. A high-risk patient with myriad medical conditions, she has recently successfully undergone a Laparoscopic Sleeve Gastrectomy surgery at Saifee Hospital. This special gene study for the 91 different types of genes isolated with obesity related syndrome has been carried out gratis on Ms. Eman Ahmed, by CORE Diagnostics Pvt. Ltd. details of which are being shared in view of public interest in the case. The gene identified as the cause of Obesity in Ms Eman Ahmed is a homozygous missense variant c.1055G>A, p.(Cys352Tyr) in the LEPR gene. This 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. Ms. Eman Ahmed happens to be the only one in the world with this gene defect causing obesity.
She also has another gene defect SDCCAG8 associated with PHENOTYPE Bardet‐Biedl syndrome, Senior‐ Loken syndrome but we believe that it may not be as significant the cause of obesity in her case as the LEPR Gene. Leptin receptor is involved in the regulation of body weight. The leptin receptor protein is found on the surface of cells in many organs and tissues of the body, including a part of the brain called the hypothalamus. The hypothalamus controls hunger and thirst as well as other functions such as sleep, mood, and body temperature. It also regulates the release of many hormones that have functions throughout the body.
Mutations in this gene have been associated with an autosomal recessive disorder causing obesity and pituitary dysfunction. Leptin receptor deficiency caused by the LEPR gene mutations leads to a disorder, which is associated with excessive hunger, massive weight gain, and reduced production of hormones that direct sexual development (hypogonadotropic hypogonadism). Mutations result in less receptor protein getting to the cell surface where leptin binding takes place. The receptors that get to the cell surface may bind to leptin, but their signalling function is impaired. The resulting shortage of leptin signalling disrupts normal feelings of hunger and satiety.
In a collective statement the Team of Doctors, treating Ms. Eman Ahmed at Saifee Hospital lead by Dr. Muffazal Lakdawala, said “ There is a hormone called leptin which comes from fat tissue and tells the brain when fat stores are being depleted. In this unfortunate person, the docking station in the brain that leptin plugs into seems to be very defective so leptin doesn’t send its signal. Because of this. from early life., this patient’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. Unfortunately, there is currently no specific treatment for this condition. The operation that she has had may have some beneficial effects but does not deal with the underlying problem. New drugs are being developed which may be able, at least partially, to "bypass” the signalling block in the brain may have some promise in this situation but it is very early days for these drugs. So if she has access to these drugs and they are effective then we have a solution for her obesity. If not, then she may need a more radical surgery which causes malabsorption a little later in life.”
The Doctors consulted for these studies were:
Dr. David Cummings, M.D.
Professor of Medicine
Senior Investigator, Diabetes & Obesity Centre of Excellence University of Washington .
Professor Sir Stephen O'Rahilly
MD FRS FMedSci Professor of Clinical Biochemistry and Medicine and Director, Metabolic Research Laboratories, University of Cambridge Director,
MRC Metabolic Diseases Unit Scientific Director,Cambridge NIHR Biomedical Research Centre Hon.Consultant Physician,Addenbrooke & rsquo;s Hospital
Professor Sadaf Farooqi & nbsp;
PhD,FRCP,FMedSci Wellcome Trust Senior Clinical Fellow and Professor of Metabolism and Medicine Director,
Wellcome - MRC IMS Translational Research Facility < /p>
Dr. Shehla Shaikh
Consultant Endocrinologist < br/> Saifee Hospital
Mumbai < /p>
Dr. Muffazal Lakdawala & Team