Scientifically, there are a large number of genes involved in weight regulation and more than 30 genes are associated with a predisposition toobesity. Other changes in genes are similar to type 2 diabetes.
More and more genes involved in obesity and diabetes
“We are discovering more and more genes responsible for obesity and diabetes, explains Professor Alex Blakemore of the Department of Medicine at Imperial College London. We do not know the total number of genes involved in these disorders and also the proportion of individuals who have these genetic alterations.
In the Imperial College London study, Professor Blakemore and his colleagues sequenced the genome of a young woman considered extremely obese by those close to her. The woman suffered from numerous weight problems since childhood resulting from a appetite exacerbated and type 2 diabetes. She also had type 2 diabetes, learning and reproductive problems.
A genetic mutation would prevent hormones from working well
Genetic analysis finds the inheritance of 2 copies of a genetic mutation that prevented her body from making a protein called carboxypeptidase-E (CPE). However, this protein is an essential enzyme for the function of hormones regulating appetite, in the brain, insulin and other hormones of the reproductive system.
Previous studies in mice had already shown that a deficiency in CPE was involved in obesity, diabetes and memory problems, but the link had not been found in humans.
CPE deficiency occurs when both parents have the genetic alteration
Here, the deficiency of the CPE is “recessive”: this means that it is transmitted only if both parents exhibit the genetic alteration.
According to study author Dr. Suzanne Alsters, the discovery of genetic cause about this patient’s problems enabled his family to better treat his illnesses. Other limbs are also studied for a copy of this abnormal gene to determine the risk of obesity.
Treat obesity and type 2 diabetes in a personalized way
In the same way as for other genetic diseases, obesity and type 2 diabetes can be considered as “inherited” pathologies. This discovery calls for a more systematic search for the genetic causes of metabolic disorders and for a personalized treatment to be considered.
“If people are diagnosed with a genetic condition like this, we can look for other symptoms and provide counseling to other family members. The diagnosis is very valuable to the patient. It helps set goals. realistic with the best possible treatment “.
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