TUB A4A 罕见变异过多提示 ALS 存在细胞骨架缺陷。
Excess of rare damaging TUBA4A variants suggests cytoskeletal defects in ALS.
机构信息
Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
出版信息
Neuron. 2014 Oct 22;84(2):241-3. doi: 10.1016/j.neuron.2014.10.002.
PMID:25374348
Abstract
Identifying disease genes implicated in late-onset neurodegenerative disorders can be challenging due to the lack of DNA samples from multiple affected family members. To overcome this limitation, Smith et al. (2014) report in this issue of Neuron the first exome-wide rare variant analysis in unrelated familial amyotrophic lateral sclerosis (ALS) patients associating TUBA4A with ALS.
摘要
由于缺乏多个受影响家族成员的 DNA 样本，因此确定与晚发性神经退行性疾病相关的疾病基因具有挑战性。为了克服这一限制，Smith 等人（2014）在本期《神经元》杂志上报告了首例在无关联家族性肌萎缩侧索硬化症（ALS）患者中进行的外显子组全范围罕见变异分析，该分析将 TUBA4A 与 ALS 相关联。
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