23.04.2017

Scientists have revealed the reason of overeating in case of the rare hereditary disease

According to approximate estimates every 15000th person suffers from Prader-Willi syndrome. This syndrome occurs in the result of certain defects in the area of the 15th chromosome. In the result of these defects hypothalamus functions are disordered (hypothalamus is responsible for appetite and other parts of the brain). Deccan Chronicle writes that it has been known since long ago which genes are related with the disease, but mechanisms underlying this disease have been a secret.

Specialists of the Columbia University Medical Center have revealed that deprivation of PC1 enzyme causes a strong feeling of hunger in case of Prader-Willi syndrome. And that is why people suffering from this disease are prone to a serious obesity from their very childhood.  For carrying out researches scientists turned skin cells of patients suffering from this syndrome and those of healthy volunteers into brain cells.

The researchers have determined that in cells of patients with Prader-Willi syndrome levels of PC1 enzyme appeared to be significantly lower in comparison with the control group. In addition to that volunteers with the syndrome had lowered levels of NHLH2 protein. This protein is coded by gene NHLH2 which also participates in production of PC1.

In order to become convinced of their conclusions the specialists performed a research in mice with a lowered level of Snord116 gene related with the syndrome.  The researchers noticed that the mice had a lowered production of NHLH2 and PC1. And the studied rodents had the majority of hormonal anomalies common in case with Prader-Willi syndrome. The scientists consider that: PC1 may become a target of medical substances against this disease.

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