Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseases

Abstract Lysosomal storage diseases (LSDs) are inherited conditions caused by impaired lysosomal function and consequent substrate storage, leading to a range of clinical manifestations, including cardiovascular disease. This may lead to significant symptoms and even cardiac failure, which is an important cause of death among patients. Currently available treatments do not completely correct cardiac involvement in the LSDs. Gene therapy has been tested as a therapeutic alternative with promising results for the heart disease. In this review, we present the results of different approaches of gene therapy for LSDs, mainly in animal models, and its effects in the heart, focusing on protocols with cardiac functional analysis.摘要：溶酶体贮积症（Lysosomal storage diseases, LSDs）是一类因溶酶体功能受损、继发底物贮积而引发的遗传性疾病，可导致包括心血管疾病在内的多种临床表现。此类疾病可引发严重症状甚至心力衰竭，而心力衰竭是患者重要的死亡诱因之一。当前可用的治疗手段无法完全纠正溶酶体贮积症患者的心脏受累情况。基因治疗已作为治疗候选方案接受测试，在该类心脏疾病的治疗中展现出颇具前景的效果。本综述梳理了针对溶酶体贮积症的各类基因治疗策略的研究结果（主要基于动物模型），及其对心脏的影响，重点关注包含心脏功能分析的试验方案。