Department of Neurosciences, Odontostomatological and Reproductive Sciences, University Federico II, Via Pansini, 5, 80131, Naples, NA, Italy.
Neurol Sci. 2018 Jan;39(1):149-152. doi: 10.1007/s10072-017-3156-6. Epub 2017 Oct 18.
Polyglutamine disorders are neurodegenerative diseases that share a CAG repeat expansion in the coding region, resulting in aggregated proteins that can be only degraded through aggrephagy. We measured the expression of autophagy genes in peripheral blood mononuclear cells of 20 patients with Huntington's disease (HD), 20 with spinocerebellar ataxia type 2 (SCA2), and 20 healthy individuals. HD patients showed increased expression of MAP1LC3B (+ 43%; p = 0.048), SQSTM1 (+ 49%; p = 0.002), and WDFY3 (+ 89%; p < 0.001). SCA2 patients had increased expression of WDFY3 (+ 69%; p < 0.001). We show that peripheral markers of autophagy are elevated in polyQ diseases, and this is particularly evident in HD.
多聚谷氨酰胺疾病是神经退行性疾病，它们在编码区域共享 CAG 重复扩展，导致聚合蛋白只能通过聚集物自噬降解。我们测量了 20 名亨廷顿病（HD）患者、20 名脊髓小脑共济失调 2 型（SCA2）患者和 20 名健康个体的外周血单个核细胞中自噬基因的表达。HD 患者的 MAP1LC3B（+43%；p=0.048）、SQSTM1（+49%；p=0.002）和 WDFY3（+89%；p<0.001）表达增加。SCA2 患者的 WDFY3 表达增加（+69%；p<0.001）。我们表明，多聚谷氨酰胺疾病中外周自噬标志物升高，在 HD 中尤为明显。
