Matrin 3 基因突变导致家族性肌萎缩侧索硬化症。
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.
机构信息
Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA.
Department of Neurology, Neurological Institute, Neuromuscular Center, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA.
出版信息
Nat Neurosci. 2014 May;17(5):664-666. doi: 10.1038/nn.3688. Epub 2014 Mar 30.
MATR3 is an RNA- and DNA-binding protein that interacts with TDP-43, a disease protein linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Using exome sequencing, we identified mutations in MATR3 in ALS kindreds. We also observed MATR3 pathology in ALS-affected spinal cords with and without MATR3 mutations. Our data provide more evidence supporting the role of aberrant RNA processing in motor neuron degeneration.
MATR3 是一种 RNA 和 DNA 结合蛋白，与 TDP-43 相互作用，TDP-43 是一种与肌萎缩侧索硬化症 (ALS) 和额颞叶痴呆相关的疾病蛋白。使用外显子组测序，我们在 ALS 家系中发现了 MATR3 突变。我们还观察到有和没有 MATR3 突变的 ALS 受累脊髓中的 MATR3 病理学。我们的数据提供了更多证据支持异常 RNA 处理在运动神经元退化中的作用。
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