カワジリ　スミヒロ   KAWAJIRI Sumihiro   河尻　澄宏    所属   医学部 医学科（附属東洋医学研究所）    職種   准教授
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	COQ2 variants in Parkinson's disease and multiple system atrophy.
掲載誌名	正式名：Journal of neural transmission (Vienna, Austria : 1996) 略　 称：J Neural Transm (Vienna) ISSNコード：14351463/03009564
掲載区分	国外
巻・号・頁	125(6),pp.937-944
著者・共著者	Mikasa Michitaka, Kanai Kazuaki, Li Yuanzhe, Yoshino Hiroyo, Mogushi Kaoru, Hayashida Arisa, Ikeda Aya, Kawajiri Sumihiro, Okuma Yasuyuki, Kashihara Kenichi, Sato Tatsuya, Kondo Hiroshi, Funayama Manabu, Nishioka Kenya, Hattori Nobutaka
発行年月	2018/06
概要	Coenzyme Q2, polyprenyltransferase (COQ2) variants have been reported to be associated with multiple system atrophy (MSA). However, the relationship between COQ2 variants and familial Parkinson's disease (PD) remains unclear. We investigated the frequency of COQ2 variants and clinical symptoms among familial PD and MSA. We screened COQ2 using the Sanger method in 123 patients with familial PD, 52 patients with sporadic PD, and 39 patients with clinically diagnosed MSA. Clinical information was collected from medical records for the patients with COQ2 variants. Allele frequencies of detected rare non-synonymous variants were compared by public database of the Exome Aggregation Consortium (ExAC) and Japanese genetic variation database, using Fisher's exact test. We detected two probands with rare variants in COQ2, the p.P157S from Family A, whose patient was clinically diagnosed as having juvenile PD, and the p.H15 N/p.G331S from Family B, whose patients shared common symptoms of PD. Furthermore, in an association study comparing these familial PD and MSA cases with a public variant database, eight non synonymous variants were detected in COQ2. Three of these were very rare variants, namely, p.P157S, p.L261Qfs*4, and p.G331S, and one variant, p.G21S, was found to show a significant association with familial PD. COQ2 variants rarely may associate with the disease onset of familial PD. Our findings contribute to an understanding of COQ2 variants in neurodegenerative disorders.
DOI	10.1007/s00702-018-1885-1
PMID	29644397