COQ2 variants in Parkinson's disease and multiple system atrophy.
COQ2 variants in Parkinson's disease and multiple system atrophy.
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帕金森病和多系统萎缩中的 COQ2 变异。
DOI：
10.1007/s00702-018-1885-1
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发表时间：
2018
期刊：
影响因子：
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通讯作者：
Hattori N.
中科院分区：
文献类型：
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作者：
Mikasa M;Kanai K;Li Y;Yoshino H;Mogushi K;Hayashida A;Ikeda A;Kawajiri S;Okuma Y;Kashihara K;Sato T;Kondo H;Funayama M;Nishioka K;Hattori N.
辅酶Q2，聚异戊二烯基转移酶（COQ 2）变体已被报道与多系统萎缩（MSA）有关。然而，COQ 2变异与家族性帕金森病（PD）之间的关系仍不清楚。我们调查了家族性PD和MSA中COQ 2变异和临床症状的频率。我们使用桑格法对123例家族性PD、52例散发性PD和39例临床诊断为MSA的患者进行了COQ 2筛查。从COQ 2变异患者的病历中收集临床信息。使用Fisher精确检验，通过外显子组聚集联盟的公共数据库和日本遗传变异数据库比较检测到的罕见非同义变异的等位基因频率。我们检测到两个具有COQ 2罕见变异的先证者，来自家庭A的p.P157S，其患者临床诊断为青少年PD，和来自家庭B的p.H15 N/p.G331S，其患者具有PD的常见症状。此外，在一项将这些家族性PD和MSA病例与公共变异数据库进行比较的关联研究中，在COQ 2中检测到8种非同义变异。其中三个是非常罕见的变异体，即p.P157S、p.L261Qfs * 4和p.G331S，发现一个变异体p.G21S与家族性PD显著相关。COQ 2变异很少与家族性PD的发病相关。我们的研究结果有助于了解神经退行性疾病中的COQ 2变体。
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 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. H15N/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 nonsynonymous 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.