Department of Molecular Biology and Genetics, Neurodegeneration Research Laboratory (NDAL), Boğaziçi University, Istanbul, Turkey.
Biochem Biophys Res Commun. 2012 Oct 12;427(1):1-4. doi: 10.1016/j.bbrc.2012.08.103. Epub 2012 Sep 7.
Mutations in ALS2 gene/alsin are associated with recessive forms of motor neuron disorders including Juvenile Amyotrophic Lateral Sclerosis (JALS), Infantile-onset Ascending Hereditary Spastic Paraplegia (IAHSP) and Juvenile Primary Lateral Sclerosis (JPLS). In this study, we show that alsin and another MND-linked protein, spartin are related to each other both at mRNA and protein levels in Neuro2a cells. We observed significant alterations in spartin expression in alsin knock-down conditions. We further found that both proteins colocalize in N2a cells and spartin isoform-a precipitates with alsin in the same protein complex. In the light of these results we suggest that alsin and spartin may interact each other physically.
ALS2 基因突变/alsin 与隐性运动神经元疾病相关，包括青少年肌萎缩侧索硬化症（JALS）、婴儿型起病的遗传性痉挛性截瘫（IAHSP）和青少年原发性侧索硬化症（JPLS）。在这项研究中，我们在 Neuro2a 细胞中发现 alsin 和另一种与 MND 相关的蛋白 spartin 在 mRNA 和蛋白水平上相互关联。在 alsin 敲低的情况下，我们观察到 spartin 表达的显著改变。我们进一步发现，这两种蛋白在 N2a 细胞中共定位，并且 spartin 异构体-a 与 alsin 在相同的蛋白复合物中沉淀。鉴于这些结果，我们推测 alsin 和 spartin 可能相互作用。
