POLG1 polyglutamine tract variants associated with Parkinson's disease
POLG1 polyglutamine tract variants associated with Parkinson's disease
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DOI：
10.1016/j.neulet.2010.04.021
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发表时间：
2010-06-14
影响因子：
2.5
通讯作者：
Tienari, Pentti J.
中科院分区：
文献类型：
--
作者：
Eerola, Johanna;Luoma, Petri T.;Tienari, Pentti J.
线粒体DNA聚合酶γ（POLG I）基因的等位基因变异在帕金森病（PD）中可能发挥作用。首先，在家族性帕金森综合征和线粒体肌病患者中发现了POLG I错义突变。其次，在芬兰特发性散发性PD患者中发现POLG 1 CAG重复（poly-Q）的罕见等位基因频率增加，但存在相互矛盾的报告。POLG 1 poly-Q基因有一个10个重复的主要等位基因（10 Q，频率>= 80%）和几个不太常见的等位基因，如11 Q（频率6-9%），6 Q-9 Q和12 Q-14 Q（频率
A possible role of allelic variation of the mitochondrial DNA polymerase gamma (POLG I) gene in Parkinson's disease (PD) has been suggested. First, POLG I missense mutations have been found in patients with familial parkinsonism and mitochondrial myopathy. Second, increased frequency of rare alleles of the POLG1 CAG-repeat (poly-Q) has been found in Finnish idiopathic apparently sporadic PD patients, but conflicting reports exist. The POLG1 poly-Q exhibits one major allele with 10 repeats (10Q, frequency >= 80%) and several less common alleles such as 11Q (frequency 6-9%), 6Q-9Q and 12Q-14Q (frequencies