Kim Eun-Joo, Kwon Jay C, Park Kee Hyung, Park Kyung-Won, Lee Jae-Hong, Choi Seong Hye, Jeong Jee H, Kim Byeong C, Yoon Soo Jin, Yoon Young Chul, Kim Sangyun, Park Key-Chung, Choi Byung-Ok, Na Duk L, Ki Chang-Seok, Kim Seung Hyun
Department of Neurology, Pusan National University Hospital, Pusan National University School of Medicine and Medical Research Institute, Busan, Korea.
Department of Neurology, Changwon Fatima Hospital, Changwon, Korea.
Neurobiol Aging. 2014 May;35(5):1213.e13-7. doi: 10.1016/j.neurobiolaging.2013.11.033. Epub 2013 Dec 4.
The hexanucleotide repeat expansion (GGGGCC) in chromosome 9 open-reading frame 72 (C9orf72) and mutations in the microtubule-associated protein tau (MAPT) and progranulin (GRN) genes are known to be associated with the main causes of familial or sporadic amyotrophic lateral sclerosis and frontotemporal dementia (FTD) in Western populations. These genetic abnormalities have rarely been studied in Asian FTD populations. We investigated the frequencies of mutations in MAPT and GRN and the C9orf72 abnormal expansion in 75 Korean FTD patients. Two novel missense variants of unknown significance in the MAPT and GRN were detected in each gene. However, neither abnormal C9orf72 expansion nor pathogenic MAPT or GRN mutation was found. Our findings indicate that MAPT, GRN, and C9orf72 mutations are rare causes of FTD in Korean patients.
已知9号染色体开放阅读框72（C9orf72）中的六核苷酸重复扩增（GGGGCC）以及微管相关蛋白tau（MAPT）和原颗粒蛋白（GRN）基因的突变与西方人群中家族性或散发性肌萎缩侧索硬化症和额颞叶痴呆（FTD）的主要病因相关。在亚洲FTD人群中，这些基因异常很少被研究。我们调查了75例韩国FTD患者中MAPT和GRN的突变频率以及C9orf72的异常扩增情况。在每个基因中检测到两个意义不明的MAPT和GRN新错义变体。然而，未发现C9orf72异常扩增或致病性MAPT或GRN突变。我们的研究结果表明，MAPT、GRN和C9orf72突变是韩国患者FTD的罕见病因。
