There was discovered a gene mutations significantly increasing the risk of developing Parkinson's

Research aimed at finding genes that increase the likelihood of Parkinson's disease is a crucial area of modern neurology. At present, it is revealed that certain mutations in DNA are detected in 5-15% of patients, primarily in people with hereditary predisposition to the disease and, accordingly, with the highest risk of disease development. Scientists at the University of Antwerp, Belgium, have found that Parkinson's appearance is often associated with mutations in the ATP10B gene. 

This gene is responsible for the synthesis of the eponymous protein ATP10B, which is essential for glucosylceramide transport. This lipid has been shown to play a key role in the development of Parkinson's disease. It facilitates the timely removal of damaged and dead nerve cells from the brain.

ATP10B protein deficiency leads to increased sensitivity of nerve cells to environmental damaging factors, death and accumulation of dead neurons. A study involving 617 people with Parkinson's disease showed that people with mutation in two ATP10B genes - one for each chromosome - had the highest risk of disease development. It means that both parents of such patients had a hereditary predisposition to the disease due to the mutation in this area of DNA. 

The results of the study will help not only to identify people with a high predisposition to Parkinson's disease, but also to develop new treatment strategies associated with the introduction of ATP10B protein into the brain of patients, which will protect nerve cells from damage and death. 

April 14, 2020, 9:37 a.m.

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