黏多糖贮积症的最新进展

Update in the Mucopolysaccharidoses.

机构信息

The Center for Cardiovascular Research and the Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital; and the Ohio State University, Columbus, OH; Department of Pediatrics, the Ohio State University, Columbus, OH.

Department of Pediatrics, the Ohio State University, Columbus, OH; Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital; and the Ohio State University, Columbus, OH.

出版信息

Semin Pediatr Neurol. 2021 Apr;37:100874. doi: 10.1016/j.spen.2021.100874. Epub 2021 Feb 10.

DOI:10.1016/j.spen.2021.100874

PMID:33892850

Abstract

The mucopolysaccharidoses (MPS) are a genetically heterogenous group of enzyme deficiencies marked by accumulation of glycosaminoglycans in lysosomes leading to multisystem disease. Although significant therapeutic advances have been made for the MPS disorders, including recombinant enzyme replacement approaches, the neuronopathic features of MPS lack adequate treatment. Gene therapies, including adeno-associated virus vectors targeting the central nervous system, hold significant promise for this group of disorders. Optimal outcomes of all therapies will require early disease identification and treatment, ideally by newborn screening.

摘要

黏多糖贮积症（MPS）是一组遗传异质性的酶缺乏症，其特征是溶酶体中糖胺聚糖的积累，导致多系统疾病。尽管在 MPS 疾病的治疗方面已经取得了重大进展，包括重组酶替代治疗方法，但 MPS 的神经病变特征仍然缺乏有效的治疗方法。基因治疗，包括针对中枢神经系统的腺相关病毒载体，为这一组疾病带来了巨大的希望。所有治疗方法的最佳结果都需要早期发现和治疗，理想情况下可以通过新生儿筛查实现。