Lin Hsien-Han, Wu Ruey-Meei, Lin Han-I, Chen Meng-Ling, Tai Chun-Hwei, Lin Chin-Hsien
College of Medicine, National Taiwan University, Taipei, Taiwan.
Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan.
Neurobiol Aging. 2017 Feb;50:169.e3-169.e4. doi: 10.1016/j.neurobiolaging.2016.10.021. Epub 2016 Oct 21.
Loss of function mutations in RAB39B were recently linked to X-linked recessive early-onset Parkinsonism with variable degrees of intellectual dysfunction. Postmortem examination of the brain biopsy from a patient carrying the gene deletion revealed widespread α-synuclein pathology. However, subsequent analyses reported conflict results to replicate the role of RAB39B mutations in patients with early-onset Parkinsonism. The aim of this study was to address the genetic contribution of RAB39B in early-onset and familial Parkinson's disease (PD) in a Taiwanese population. Among 466 subjects, we sequenced both the exons and exon-intron boundaries of RAB39B from 235 patients with early-onset PD (age of onset <50 years), 119 probands with familial PD, and 112 ethnicity-matched control subjects. We did not find any coding variants or previously reported mutations, suggesting that RAB39B mutations are not a common cause of early-onset or familial PD in our Taiwanese population.
RAB39B功能缺失突变最近被认为与X连锁隐性早发性帕金森病有关，伴有不同程度的智力功能障碍。对一名携带该基因缺失患者的脑活检进行尸检，发现广泛的α-突触核蛋白病变。然而，随后的分析报告了相互矛盾的结果，无法复制RAB39B突变在早发性帕金森病患者中的作用。本研究的目的是探讨RAB39B在台湾人群早发性和家族性帕金森病（PD）中的遗传贡献。在466名受试者中，我们对235例早发性PD患者（发病年龄<50岁）、119例家族性PD先证者和112名种族匹配的对照受试者的RAB39B外显子和外显子-内含子边界进行了测序。我们没有发现任何编码变异或先前报道的突变，这表明RAB39B突变不是我们台湾人群早发性或家族性PD的常见原因。
