Scientists at Imperial College London were performing a series of testing including sequencing the DNA of a morbidly obese young woman and some members of her family.This woman had an increased appetite which lead to major weight issues stemming from childhood. In addition, she had type 2 diabetes, learning difficulties, and reproductive problems. 

Based on the DNA sequencing, researchers found that this subject had inherited two copies of a harmful genetic change that meant she could not make a protein called carboxypeptidase-E (CPE). CPE is an enzyme responsible for the proper functioning of several hormones and brain transmitters controlling appetite, insulin, and other hormones important in the reproductive system. This clearly was a interesting finding that would explain the conditions and symptoms that the woman had been afflicted with her whole life.  

Previous studies have revealed that there are over 30 genes with harmful changes in DNA that cause extreme obesity.  Furthermore, there are several genes that when altered can cause type 2 diabetes as researchers have seen in this PLOS One study by NIHR Imperial Biomedical Research Centre and Diabetes UK. 

Genetic testing for obese individuals is important because it can provide patients with a diagnosis. It can also enable doctors to assist patients in providing genetic advice to family members as well as help them to obtain the best and most appropriate treatment.

In conclusion, diseases like this one are a recessive condition caused by inheriting an altered genetic sequence from both parents. This subject’s, parents were cousins so they most definitely had a higher chance to inherit the same genetic change from both parents. Read More

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