美国马萨诸塞大学医学院robert h brown团队研究了腺相关病毒和microrna抑制sod1治疗家族性肌萎缩侧索硬化症（als）的疗效。该成果于2020年7月9日发表在《新英格兰医学杂志》上。业内人士认为，基因融合检测的发展标志着整个行业在快速稳步的前进中。
两例家族性肌萎缩侧索硬化症（als）且编码超氧化物歧化酶1（sod1）的基因发生突变的患者，接受了鞘内输注一种编码靶向sod1的microrna的腺相关病毒。在患者1中，检查分析显示脊髓组织中sod1水平低于未经治疗的sod1介导的als患者和健康对照组的相应水平。患者1的脑脊液中sod1水平短暂略低，但患者2不受影响。
患者1在输注后发生脑膜神经根炎；患者2接受了免疫抑制药物预处理，未出现这种并发症。患者1的右腿力量有短暂改善，在整个病程中，这一指标相对稳定，但肺活量没有变化。患者2在12个月的时间内，als功能和肺活量的综合评估得分稳定。该研究表明鞘内注射microrna可作为一种治疗sod1介导的als的潜在方法。
附：英文原文
title: sod1 suppression with adeno-associated virus and microrna in familial als
author: christian mueller, phd,, james d berry, md,, diane m mckenna-yasek, rn,, gwladys gernoux, phd,, margaret a owegi, md,, lindsay m pothier, bs,, catherine l douthwright, phd,, dario gelevski, bs,, sarah d luppino, bsn, rn,, meghan blackwood, bs,, nicholas s wightman, bs,, derek h oakley, md, phd,, matthew p frosch, md, phd,, terrence r flotte, md,, merit e cudkowicz, md,, and robert h brown, jr, dphil, md
issuevolume: 2020-07-08
abstract: summary two patients with familial amyotrophic lateral sclerosis (als) and mutations in the gene encoding superoxide dismutase 1 (sod1) were treated with a single intrathecal infusion of adeno-associated virus encoding a microrna targeting sod1 in patient 1, sod1 levels in spinal cord tissue as analyzed on autopsy were lower than corresponding levels in untreated patients with sod1-mediated als and in healthy controls levels of sod1 in cerebrospinal fluid were transiently and only slightly lower in patient 1 but were not affected in patient 2 in patient 1, meningoradiculitis developed after the infusion; patient 2 was pretreated with immunosuppressive drugs and did not have this complication patient 1 had transient improvement in the strength of his right leg, a measure that had been relatively stable throughout his disease course, but there was no change in his vital capacity patient 2 had stable scores on a composite measure of als function and a stable vital capacity during a 12-month period this study showed that intrathecal microrna can be used as a potential treatment for sod1-mediated als
doi: 101056nejmoa2005056
?