DNA sequencing of an extremely obese young woman and members of her family has shown that an inherited genetic change can cause Type 2 diabetes. It was found that she had inherited two copies of a genetic change which meant she was unable to make carboxypeptidase-E (CPE), an enzyme important to the processing of hormones and brain transmitters controlling appetite and insulin, as well as brain and reproductive functions.
This is the first study showing that CPE deficiency causes obesity and diabetes in humans.
The study was funded by the NIHR Imperial Biomedical Research Centre and Diabetes UK.
Source:Alsters, S. et al, Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism.