Parkinsonism Relat Disord. 2012 Jun;18(5):651-3. doi: 10.1016/j.parkreldis.2011.08.017. Epub 2011 Sep 17.
Mutations in the PINK1 gene represent the second most frequent cause of early-onset Parkinson's disease (EOPD). One or two mutated alleles were also reported in some sporadic or familial patients suffering from late-onset Parkinson's disease (LOPD). We aimed at assessing the frequency of mutations in this gene in our population. We performed a sequence analysis of PINK1 in 115 patients diagnosed with Parkinson's disease (PD) from southern Italy, including 93 sporadic cases with EOPD, 9 familial cases with EOPD, and 13 familial cases with LOPD. Three known homozygous mutations (Q456X, W437X, Q126P), corresponding to a 2.6% of all cases, were found. In particular, one mutation was detected among the sporadic cases (1.0%), one mutation among the familial early-onset patients (11.1%) and one mutation among the familial late-onset patients (7.7%). In addition, we found two heterozygous mutations (E476K, R207Q) among the sporadic patients. Only one mutation (R207Q) had not been previously described. Our results assess the role played by PINK1 in EOPD in southern Italy and illustrate the existence of mutations in this gene also in the late-onset form of the disease.
PINK1 基因突变是早发性帕金森病（EOPD）的第二大常见病因。一些散发性或家族性迟发性帕金森病（LOPD）患者也报告存在一个或两个突变等位基因。我们旨在评估该基因在我们人群中的突变频率。我们对来自意大利南部的 115 名被诊断为帕金森病（PD）的患者进行了 PINK1 序列分析，包括 93 例散发的 EOPD 病例、9 例家族性 EOPD 病例和 13 例家族性 LOPD 病例。发现了三种已知的纯合突变（Q456X、W437X、Q126P），占所有病例的 2.6%。具体而言，在散发病例中检测到一个突变（1.0%），在家族性早发性患者中检测到一个突变（11.1%），在家族性迟发性患者中检测到一个突变（7.7%）。此外，我们在散发患者中发现了两种杂合突变（E476K、R207Q）。只有一个突变（R207Q）以前没有被描述过。我们的结果评估了 PINK1 在意大利南部 EOPD 中的作用，并说明了该基因在疾病的迟发性形式中也存在突变。
