Fifita Jennifer A, Williams Kelly L, McCann Emily P, O'Brien Aidan, Bauer Denis C, Nicholson Garth A, Blair Ian P
Australian School of Advanced Medicine, Faculty of Medicine & Health Sciences, Macquarie University, Sydney, New South Wales, Australia.
Digital Productivity, Commonwealth Scientific and Industrial Research Organization, Sydney, New South Wales, Australia.
Neurobiol Aging. 2015 Mar;36(3):1602.e1-2. doi: 10.1016/j.neurobiolaging.2014.11.010. Epub 2014 Nov 20.
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that arises from the progressive degeneration of the motor neurons. Recently, mutations in the matrin 3 (MATR3) gene were described in both ALS and autosomal dominant distal myopathy with vocal cord and pharyngeal weakness. We sought to determine the prevalence of MATR3 mutations in Australian familial ALS (n = 106) using whole exome sequencing. No mutations were identified, indicating that MATR3 mutations are not a common cause of ALS in Australian familial cases with predominately European ancestry.
肌萎缩侧索硬化症（ALS）是一种致命的神经退行性疾病，由运动神经元的进行性退化引起。最近，在ALS以及伴有声带和咽部无力的常染色体显性遗传性远端肌病中都发现了核基质蛋白3（MATR3）基因突变。我们试图通过全外显子组测序来确定澳大利亚家族性ALS患者（n = 106）中MATR3基因突变的发生率。未发现突变，这表明在以欧洲血统为主的澳大利亚家族性病例中，MATR3基因突变并非ALS的常见病因。
