Overexpressing PLA2G6 mutations cause symptoms of young–onset dystonia–parkinsonism type 14 [post]

Tu-Hsueh Yeh, Han-Fang Liu, Mei-Ling Cheng, Yin-Cheng Huang, Ying-Zu Huang, Chin-Song Lu, Ching-Chi Chiu, Hao-Yuan Chen, Yi-Chuan Cheng
2020 unpublished
Background: Parkinson's disease (PD) is the most common neurodegenerative motor disorder, which is currently incurable. Mutations in many genes have been demonstrated to be the primary risk factors associated with the familial or idiopathic PD; however, the mechanisms underlying these genetic mutations resulting in parkinsonism remains unclear. Phospholipase A2 group VI (PLA2G6) has been shown to regulate lipid metabolism and homeostasis in the nervous system. Previous studies have shown that
more » ... s have shown that point mutations in PLA2G6 might be the risk factors associated with the young–onset of dystonia–parkinsonism type 14 (PARK14). However, limited information is available regarding its pathogenic role and the mechanism underlying its function.
doi:10.21203/rs.3.rs-25963/v2 fatcat:3vkv544ugvfq3oxbdsd5xeyhcq