意大利多系统萎缩症患者 COQ2 基因突变分析。

Genetic mutation analysis of the COQ2 gene in Italian patients with multiple system atrophy.

机构信息

Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy; Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.

Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy.

出版信息

Gene. 2019 Oct 20;716:144037. doi: 10.1016/j.gene.2019.144037. Epub 2019 Aug 6.

DOI:10.1016/j.gene.2019.144037

PMID:31398377

Abstract

COQ2 encodes para-hydroxybenzoate-polyprenyl transferase and, recently, mutations in this gene have been associated with the increase of the risk of multiple system atrophy (MSA) in Japanese cases. Subsequently, studies in Asian patients confirmed the role of COQ2 in the development of MSA, while other analysis failed to replicate these results in Caucasian population. We performed genetics screening of COQ2 in 100 MSA Italian patients. We did not find any pathogenic mutations; our results suggest that COQ2 is not a genetic risk factor for MSA in Italian population.

摘要

COQ2 编码对羟基苯甲酸-polyprenyl 转移酶，最近，该基因的突变与日本多发性系统萎缩（MSA）风险的增加有关。随后，亚洲患者的研究证实了 COQ2 在 MSA 发展中的作用，而其他分析未能在白种人群中复制这些结果。我们对 100 名意大利 MSA 患者进行了 COQ2 的遗传学筛查。我们没有发现任何致病性突变；我们的结果表明 COQ2 不是意大利人群 MSA 的遗传危险因素。