Mutational analysis of the VCP gene in Parkinson's disease.
Mutational analysis of the VCP gene in Parkinson's disease.
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DOI：
10.1016/j.neurobiolaging.2011.07.011
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发表时间：
2012-01
影响因子：
4.2
通讯作者：
Singleton AB
中科院分区：
文献类型：
--
作者：
Majounie E;Traynor BJ;Chiò A;Restagno G;Mandrioli J;Benatar M;Taylor JP;Singleton AB
已在神经系统疾病（IBMPFD和ALS）中鉴定出含缬氨肽蛋白基因（VCP）的突变，并认为其在清除异常折叠蛋白中发挥作用。在VCP突变的帕金森病中观察到帕金森综合征。基于此，我们假设VCP突变也可能导致特发性PD。我们在一个大的队列中筛选了768例迟发性PD病例（平均发病年龄= 70岁）的VCP基因编码区，这些病例既有散发的，也有阳性家族史。我们发现了一些罕见的单核苷酸变化，包括以前描述为致病的变体，但没有明确的致病变体。我们的结论是VCP突变不是特发性PD的常见原因。
Mutations in the valosin-containing protein gene (VCP) have been identified in neurological disorders (IBMPFD and ALS) and are thought to play a role in the clearance of abnormally folded proteins. Parkinsonism has been noted in kindreds with VCP mutations. Based on this, we hypothesized that mutations in VCP may also contribute to idiopathic PD. We screened the coding region of the VCP gene in a large cohort of 768 late onset PD cases (average age at onset = 70 years), both sporadic and with positive family history. We identified a number of rare single nucleotide changes, including a variant previously described to be pathogenic, but no clear disease-causing variants. We conclude that mutations in VCP are not a common cause for idiopathic PD.