在英国一组家族性和散发性患者中，CHCHD10基因的P34S变异与肌萎缩侧索硬化症无关。
The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients.
作者信息
Wong Chun Hao, Topp Simon, Gkazi Athina Soragia, Troakes Claire, Miller Jack W, de Majo Martina, Kirby Janine, Shaw Pamela J, Morrison Karen E, de Belleroche Jacqueline, Vance Caroline A, Al-Chalabi Ammar, Al-Sarraj Safa, Shaw Christopher E, Smith Bradley N
机构信息
Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.
出版信息
Neurobiol Aging. 2015 Oct;36(10):2908.e17-8. doi: 10.1016/j.neurobiolaging.2015.07.014. Epub 2015 Jul 13.
Mutations in CHCHD10 have recently been reported as a cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. To address the genetic contribution of CHCHD10 to ALS, we have screened a cohort of 425 UK ALS ± frontotemporal dementia patients and 576 local controls in all coding exons of CHCHD10 by Sanger sequencing. We identified a previously reported p.P34S variant that is also present in neurologically healthy controls (p = 0.58). Our results suggest that CHCHD10 is not a primary cause of ALS in UK cases.
最近有报道称，CHCHD10基因的突变是肌萎缩侧索硬化症（ALS）和额颞叶痴呆的病因。为了探究CHCHD10基因对ALS的遗传作用，我们通过桑格测序法，对425名患有或未患有额颞叶痴呆的英国ALS患者以及576名当地对照者的CHCHD10基因所有编码外显子进行了筛查。我们发现了一个先前报道过的p.P34S变异，该变异在神经系统健康的对照者中也存在（p = 0.58）。我们的研究结果表明，在英国的病例中，CHCHD10基因不是ALS的主要病因。
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