Researchers from Imperial College London have discovered a new genetic form of obesity and type 2 diabetes. The study, which was published in PLOS ONE, suggests that type 2 diabetes is largely caused by genetic factors, many of which are yet to be discovered.
There are currently 30 known genetic mutations that increase the risk of obesity, and a number of other mutations that cause type 2 diabetes. There may be several more mutations that are currently undiscovered.
The new findings add further evidence to the theory that type 2 diabetes and obesity are often caused by genetic factors and therefore inherited, rather than being simply caused by “laziness” and “lifestyle factors.”
“There are now an increasing number of single-gene causes of obesity and diabetes know,” said Professor Alex Blakemore, of the Department of Medicine at Imperial College London and lead author of the study.
“These are serious disorders that affect the body’s ability to regulate hunger and fullness signals. They are inherited in just the same way as other genetic diseases and the sufferers should not be stigmatised for their condition. They should be offered genetic counselling and specialised lifelong support to allow them as healthy a life as possible.”
The research was conducted by sequencing the genome of an “extremely obese” young woman and her family. The young woman reported having a huge appetite since childhood. This had led to weight problems, which had persisted since. The woman also had type 2 diabetes, learning difficulties, and problems with her reproductive system.
When the team analysed her genes, they found two inherited copies of a genetic mutation that prevented the production of carboxypeptidase-E (CPE), a protein largely responsible for the regulation of insulin and appetite. Previous research had indicated a link between CPE and obesity in mice, but this was the first to do so in humans.
CPE deficiency can only be inherited if both parents have the same fault in their genetic sequence. The young woman’s older brother had similar problems, and died at the age of 21.
The research suggests that much of the stigmatisation of people with type 2 diabetes is misplaced. More and more evidence suggests that there are factors in the development of type 2 diabetes that are entirely beyond the individual’s control.
Moreover, understanding the real genetic causes of many cases of type 2 diabetes will lead to better, more focused treatment.
First author of the study Dr. Suzanne Alsters said: “Finding a genetic cause for the patient’s problems has helped her and her family to understand and manage her condition better. We can also look at the members of her family with one abnormal copy of the gene, to see [if] they are affected in more subtle ways that could increase their risk of obesity.”
Professor Blakemore echoed this: “Diagnosis is very valuable to the patient. It helps to set realistic expectations, and can help them get the best possible treatment.”

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