Brain: First time! Xiangya Hospital, Central South University, mapped the genetic mutations associated with Parkinson's disease in China.

Author Guo Jifeng (researcher, Xiangya Hospital, Central South University) Parkinson's disease (PD) is a complex neurodegenerative disease. The main motor characteristics include tremor, ankylosis, bradykinesia and postural imbalance; non motor features include constipation, REM sleep behavior disorder and olfactory loss.the etiology and pathogenesis of Parkinson's disease are still unclear. It is generally believed that aging, genetics and environmental factors and their interaction are involved in the occurrence and development of Parkinson's disease.since SNCA, the first pathogenic gene of Parkinson's disease, was identified in the 1990s, the role of genetic factors in the pathogenesis of Parkinson's disease has attracted more and more attention.on July 2, 2020, Professor Tang Beisha, researcher Guo Jifeng and researcher Li Jinchen from the Department of Neurology of Xiangya Hospital of Central South University and national geriatric disease clinical research center (Xiangya) (Zhao Yuwen and Qin Lixia are the co first authors) published the title: the role of genetics in Parkinson's disease: a large cohort Study in Chinese mainland population.first systematically drew the mutation map of the Parkinson disease related gene in Chinese mainland, and provided genetic evidence for the treatment of Parkinson disease.specifically, Zhao Yuwen and Qin Lixia used the second generation sequencing technology combined with multiplex ligation dependent probe amplification According to the criteria and guidelines of American Society of medical genetics and genomics (ACMG), 23 known PD related genes and GBA genes were systematically analyzed in 192 patients with autosomal recessive PD (ar-pd), 242 patients with autosomal dominant PD (ad-pd) and 1242 patients with early-onset PD (eopd).the results showed that the mutation rate of PD related genes was 33.85% in ar-pd families, 4.13% in ad-pd families and 4.59% in eopd patients.diagram 1 Chinese mainland PD and EOPD PD related gene mutation spectrum at the same time, the study found that the most common mutation frequency is PRKN gene, followed by GBA, LRRK2, PLA2G6, PINK1, LRRK2, and other genes.moreover, the age of onset (AAO) (median 31.5 years) of PD probands with PD related gene pathogenic mutations was 14.5 years earlier than that of PD probands without PD related gene pathogenic mutations (i.e., non carriers, median 46.0 years). In addition, the newly discovered SNCA p.p117s mutation, LRRK2 p.n1437d mutation, PRKN c.619-1g & gt; C mutation and PRKN p.c323-v324del mutation were further verified by cell biology, which further showed their pathogenicity in PD.results revealed some genetic factors of familial PD and EOPD in Chinese mainland, suggesting the importance of PD related gene detection in familial PD and EOPD, especially those with AAO less than 40 years old, and suggesting that there are still unknown genetic factors in familial PD and AAO in Chinese mainland.in Chinese mainland Chinese mainland, the researchers first conducted a large-scale, comprehensive and systematic genetic study on the PD related gene in mainland China from the perspective of PD related genes. The PD related gene mutation map was drawn up in mainland China, and the age spectrum and phenotype spectrum of PD related genes in Chinese mainland were systematically proposed. The diagnosis and classification of PD genes were also made for the PD population. The type and precision treatment has guiding significance.paper links: