Department of Neurology, University of Yamanashi, Chuo, Japan.
Department of Neurology, University of Yamanashi, Chuo, Japan.
Neurobiol Dis. 2024 Oct 1;200:106639. doi: 10.1016/j.nbd.2024.106639. Epub 2024 Aug 19.
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease affecting upper and lower motor neurons, leading to death resulting mainly from respiratory failure, for which there is currently no curative treatment. Underlying pathological mechanisms for the development of ALS are diverse and have yet to be elucidated. Non-invasive testing to isolate circulating molecules including microRNA to diagnose ALS has been reported, but circulating extracellular vesicle (EV)-derived microRNA has not been fully studied in the ALS population.
A systematic literature review to explore studies investigating the profile of microRNAs in EVs from blood samples of ALS patients was carried out according to the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guideline.
Eleven studies including a total of 263 patients with ALS were included in the present systematic review. The majority of patients had sporadic ALS, though a small number of patients with ALS having genetic mutations were included. Seven studies used plasma-derived EVs, and the remaining four studies used serum-derived EVs. RNA sequencing or microarrays were used in eight studies, and quantitative PCR was used in eight studies, of which five studies used RNA sequencing or microarrays for screening and quantitative PCR for validation. There was overlap of miR-199a-3p and miR-199a-5p in three studies.
Overall, the systematic review addressed the current advances in the profiling of microRNAs in circulating EVs of ALS patients. Blood samples, isolation of EVs, and microRNA analysis were diverse. Although there was an overlap of miR-199a-3p and miR-199a-5p, collection of further evidence is warranted.
肌萎缩侧索硬化症(ALS)是一种破坏性的神经退行性疾病,影响上下运动神经元,导致主要因呼吸衰竭而死亡,目前尚无治愈方法。ALS 发展的潜在病理机制多种多样,尚未阐明。已经报道了使用非侵入性测试来分离包括 microRNA 在内的循环分子以诊断 ALS,但在 ALS 人群中,尚未对循环细胞外囊泡(EV)衍生的 microRNA 进行充分研究。
根据系统评价和荟萃分析的首选报告项目(PRISMA)准则,进行了一项系统文献综述,以探讨研究血液样本中 ALS 患者 EV 中 microRNA 谱的研究。
本系统综述共纳入 11 项研究,共 263 例 ALS 患者。大多数患者为散发性 ALS,但也纳入了少数有遗传突变的 ALS 患者。7 项研究使用了血浆衍生的 EV,其余 4 项研究使用了血清衍生的 EV。8 项研究使用了 RNA 测序或微阵列,8 项研究使用了定量 PCR,其中 5 项研究使用了 RNA 测序或微阵列进行筛选,定量 PCR 进行验证。有 3 项研究中存在 miR-199a-3p 和 miR-199a-5p 的重叠。
总的来说,系统综述探讨了目前在 ALS 患者循环 EV 中 microRNA 谱分析方面的进展。血样、EV 分离和 microRNA 分析存在多样性。尽管存在 miR-199a-3p 和 miR-199a-5p 的重叠,但仍需要收集更多的证据。