Department of Neurology, Chang Gung Memorial Hospital Linkou Medical Center and College of Medicine, Chang Gung University, Taoyuan, Taiwan.
Orphanet J Rare Dis. 2017 Dec 19;12(1):185. doi: 10.1186/s13023-017-0742-x.
Huntington's disease (HD), caused by expansion of a polyglutamine tract within HUNTINGTIN (HTT) protein, is an autosomal dominant neurodegenerative disease associated with a progressive neurodegeneration of striatum and cerebral cortex. Although a few studies have identified substantial microRNA (miRNA) alterations in central nervous tissues from HD patients, it will be more accessible to employ these molecular changes in peripheral tissues as biomarkers for HD.
We examined the expression levels of 13 miRNAs (miR-1, mirR-9, miR-9*, miR-10b, miR-29a, miR-29b, miR-124a, miR-132, miR-155, miR-196a, miR-196b, miR-330 and miR-615), 10 of which previously demonstrated alterations and 3 of which are potential regulators of differentially-expressed genes in brains of HD patients, in the peripheral leukocytes of 36 HD patients, 8 pre-symptomatic HD carriers and 28 healthy controls.
We found expression levels of miR-9* was significantly lower in HD patients compared with those in healthy controls, while other miRNAs did not show significant difference between these two groups. However, there was no significant correlation between Unified Huntington's Disease Rating Scales (UHDRS) and levels of miR-9* in peripheral leukocytes of HD patients.
Our findings indicate the potential of miR-9* in peripheral leukocyte as a signature of neurodegeneration in HD patients.
亨廷顿病（HD）是由亨廷顿蛋白（HTT）内的多聚谷氨酰胺重复序列扩展引起的常染色体显性神经退行性疾病，与纹状体和大脑皮层的进行性神经退行性变有关。尽管有几项研究已经确定了 HD 患者中枢神经系统中大量 microRNA（miRNA）的改变，但利用外周组织中的这些分子变化作为 HD 的生物标志物将更加容易。
我们检查了 13 种 miRNA（miR-1、miR-9、miR-9*、miR-10b、miR-29a、miR-29b、miR-124a、miR-132、miR-155、miR-196a、miR-196b、miR-330 和 miR-615）的表达水平，其中 10 种之前已证明存在改变，3 种是 HD 患者大脑中差异表达基因的潜在调节剂，在 36 名 HD 患者、8 名无症状 HD 携带者和 28 名健康对照者的外周白细胞中进行了检测。
我们发现，与健康对照组相比，HD 患者外周白细胞中 miR-9* 的表达水平显著降低，而其他 miRNA 在这两组之间没有显著差异。然而，HD 患者外周白细胞中 miR-9* 的水平与统一亨廷顿病评定量表（UHDRS）之间没有显著相关性。
我们的研究结果表明，miR-9*在外周白细胞中作为 HD 患者神经退行性变的特征具有潜在的应用价值。
