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LEPR: The gene that caused Eman Ahmed’s extreme weight gain and her weight loss story

The story of Eman Ahmed, the world’s heaviest woman weighing nearly 500 Kg is now known to most. Her remarkable recovery has given hope to many that  extreme obesity is indeed reversible. However, a factor in weight loss and reversing obesity is find out the root cause. Many weight loss attempts fail because this fundamental step is routinely skipped and instead “standard” advice is given to everyone. A quick search in google and a visit to a few dietitians will tell you that the “basic” weight loss advice is the same – low calories, low carbs, low sugars, low fats etc, with some minor superficial changes to make it appear like it’s different than the others. This is more like a magic trick rather than a real weight loss solution. If you are someone who is overweight and seeking professional help or self-help, be aware that the knowledge and understanding of your body through genetics will help you immensely.

If Eman Ahmed had sought traditional weight loss help, she would have gone nowhere. Because the cause of her obesity is not the traditionally assumed “lack of diet discipline,” her obesity was due to an extremely rare mutation in a gene called the Leptin Receptor gene. Before I explain that gene, let me first explain what Leptin is. Most of us do not suffer from these rare genetic defects, however, we carry genetic mutations, that confer varying degrees of similar effect in our bodies.

Leptin is a hormone in our body. Hormones are key signalling molecules in the body. For example, the hormone testosterone signals the human body to produce male like features and attributes. The hormone estrogen, signals the body to produce more female like features. If you try to inject a female with heavy doses of testosterone, you will see that the female will begin to develop male like features. Every hormone has its functions in the body.

The Leptin hormone is called the satiety or hunger suppression hormone. If the levels of leptin in your blood are high, then you do not feel hungry. If they blood level of leptin is low, then w feel hungry. It’s the hormone that signals to your brain “I am full”- therefore stop eating. If this signalling is not functioning well, then your brain does not get the “I am full” signal and continues to crave food. Leptin hormone is produced by the fat tissue when the fat reserves are running low, as in, when you are hungry, less leptin is produced prompting you to eat more. The brain thus receives the signal that the body is low on energy and more energy needs to be provided. When leptin levels are high, the feeling of hunger is suppressed.

When Leptin levels are low, feeling of hunger is increased and when leptin levels are high, hunger feeling is suppressed.

As in any signal, there has to be the source of the signal (where the signal come from) and the receiver of signal. For example, in your mobile phones, the source is the mobile tower and your phone is the receiver. Communication can be interrupted when there is a problem at either end. Similarly, the person with a leptin receptor mutation, has a problem at the  leptin “receivers” in the brain. Even when the body has enough leptin, because the receptors are not receiving this signal, the signal is not captured and the body thinks there is not enough and hence continues to eat. In another instance, the receptors are fully functional but are less sensitive, so it takes more leptin create the same “feel full” effect than it does in other people. In yet another instance, the does not produce this signal in sufficient amounts, a condition known as leptin deficiency. Such patients have been shown to benefit from leptin injections in reversing obesity. Here is another wonderful write up about Leptin and its actions in the human body. As you can see, there are various possibilities in a single hormone mechanism in how you could be different from others. You can imagine how many such variations exist between you and others in hundreds of such hormonal and metabolic pathways. Learning about just a few of these in how you are different from others, will go a long way in helping your weight loss.

Know your genes, Know your body, Know yourself!

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James Watson
Xcode is a pioneer in personal genomics, focussed on enabling personalized preventive healthcare. We are dedicated to empowering physicians, wellness professionals and customers with the most validated, accurate and actionable genomic information to positively impact and improve their client's health and quality of life.