From mice to humans, a new genetic form of obesity discovered!
Scientists have just discovered a new form of type 2 diabetes and obesity in humans. Researchers came across this discovery by sequencing the DNA of an exceptionally obese young woman and multiple members of her family. Besides an increase in appetite, which led to severe weight problems from a young age, she also had type 2 diabetes, reproductive problems and learning difficulties.
Researchers at Imperial College London found the lady had inherited two copies of a harmful genetic change that meant she could not make a protein called carboxypeptidase-E (CPE). Studies have previously shown that CPE deficiency causes diabetes, obesity, and impaired memory, but only in mice. No humans with this defect had been found until now as it is a very rare condition.
Professor Alex Blakemore from the Department of Medicine at Imperial College London, who led the study, said:
“These are serious disorders that affect the body’s ability to regulate hunger and fullness signals. They are inherited in the just same way as other genetic diseases and the sufferers should not be stigmatised for their condition. They should be offered genetic counseling and specialised lifelong support to allow them as healthy a life as possible.”
