New risk genes for Parkinson's disease found

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New risk genes for Parkinson's disease found

2018-11-13 00:25:42 137 ℃

Technology Daily News (Reporter Yu Huiyou correspondent Wu Xilin) ​​Parkinson's disease, a common and terrible neurodegenerative disease. Recently, a study by Tang Beisha, a professor at the Center for Medical Genetics at Central South University, identified a new risk gene, NUS1, in the Parkinson's patient population in China by using the denovo mutation analysis strategy and next-generation sequencing technology. And put forward a new idea of ​​the occurrence and development of Parkinson's disease. The results of this study are expected to help clinically provide early warning, diagnosis and intervention for Parkinson's disease. This result was published online in the internationally renowned academic journal The National Academy of Sciences.

Parkinson's disease is more common in the elderly, with an average age of onset of 60 years. The prevalence rate of people over 65 years old in China is about 1.7%. As of now, the etiology and pathogenesis of the disease are still not very clear. The academic community believes that aging, genetics, environmental factors and their interactions are involved in the occurrence and development of the disease.

In the 1990s, scientists identified the role of genetic factors in the pathogenesis of the first Parkinson's disease-causing gene SNCA. The Tangbeisha team analyzed 39 core families of early-onset Parkinson's disease through the whole exome sequencing technology, and selected 12 new candidate genes. Subsequently, they conducted a two-stage verification. In the first stage, the screening of 1852 patients and 1565 normal controls in China showed that there was a statistically significant difference in the frequency distribution of rare mutations in the NUS1 gene. In the second phase, a multicenter cohort of 3,237 patients with Parkinson's disease and 2,858 normal controls was re-validated to find that Parkinson's patients carry more rare mutations in the NUS1 gene. Studies have shown that carriers of this genetic variant exhibit typical clinical signs of Parkinson's disease. This makes this gene particularly suspicious. Since then, the team has observed phenotypes such as decreased exercise, loss of dopaminergic neurons, and decreased dopamine transmitters in the NUS1 gene expression knockout Drosophila model. These findings suggest that the NUS1 gene may play a role in the development of Parkinson's disease.