Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Neurobiol Aging. 2013 Sep;34(9):2235.e11-3. doi: 10.1016/j.neurobiolaging.2013.04.004. Epub 2013 Apr 28.
The nuclear protein fused in sarcoma (FUS) is found in cytoplasmic inclusions in a subset of patients with the neurodegenerative disorder frontotemporal lobar degeneration (FTLD-FUS). FUS contains a methylated arginine-glycine-glycine domain that is required for transport into the nucleus. Recent findings have shown that this domain is hypomethylated in patients with FTLD-FUS. To determine whether the cause of hypomethylation is the result of mutations in protein N-arginine methyltransferases (PRMTs), we selected 3 candidate genes (PRMT1, PRMT3, and PRMT8) and performed complete sequencing analysis and real-time polymerase chain reaction mRNA expression analysis in 20 FTLD-FUS cases. No mutations or statistically significant changes in expression were observed in our patient samples, suggesting that defects in PRMTs are not the cause of FTLD-FUS.
肉瘤中融合的核蛋白（FUS）存在于神经退行性疾病额颞叶变性（FTLD-FUS）患者的一部分细胞质包涵体中。FUS 含有一个甲基化的精氨酸-甘氨酸-甘氨酸结构域，该结构域对于核内运输是必需的。最近的研究结果表明，FTLD-FUS 患者的这个结构域低甲基化。为了确定低甲基化的原因是否是蛋白质 N-精氨酸甲基转移酶（PRMTs）的突变所致，我们选择了 3 个候选基因（PRMT1、PRMT3 和 PRMT8），并对 20 例 FTLD-FUS 病例进行了完整的测序分析和实时聚合酶链反应 mRNA 表达分析。在我们的患者样本中未观察到突变或表达的统计学显著变化，表明 PRMTs 的缺陷不是 FTLD-FUS 的原因。
