Neuromuscular Diseases Research Group, Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA.
Neurobiol Aging. 2011 Mar;32(3):550.e1-4. doi: 10.1016/j.neurobiolaging.2009.12.020. Epub 2010 Feb 6.
Mutations in the FUS gene have recently been described as a cause of familial amyotrophic lateral sclerosis (ALS), but their role in the pathogenesis of sporadic ALS is unclear. We undertook mutational screening of all coding exons of FUS in 228 sporadic ALS cases, and, as previous reports suggest that exon 15 represents a mutational hotspot, we sequenced this exon in an additional 1295 sporadic cases. Six variants in six different cases were found, indicating that FUS mutations can underlie apparently sporadic ALS, but account for less than 1% of this form of disease.
最近发现 FUS 基因突变是家族性肌萎缩侧索硬化症（ALS）的一个病因，但它们在散发性 ALS 发病机制中的作用尚不清楚。我们对 228 例散发性 ALS 病例的 FUS 所有编码外显子进行了突变筛查，并且，由于之前的报道表明外显子 15 是一个突变热点，我们在外显子 15 对另外 1295 例散发性病例进行了测序。在 6 个不同的病例中发现了 6 种变体，这表明 FUS 突变可能是明显的散发性 ALS 的基础，但只占这种疾病的不到 1%。
