Spinal muscular atrophy: From approved therapies to future therapeutic targets for medicine

被引：100

作者：

Chaytow, Helena ^{[1
,2
]}

Faller, Kiterie M. E. ^{[1
,2
,3
]}

Huang, Yu-Ting ^{[1
,2
]}

Gillingwater, Thomas H. ^{[1
,2
]}

机构：

[1] Univ Edinburgh, Euan MacDonald Ctr Motor Neurone Dis Res, Edinburgh, Midlothian, Scotland

[2] Univ Edinburgh, Edinburgh Med Sch Biomed Sci, Edinburgh, Midlothian, Scotland

[3] Univ Edinburgh, Royal Dick Sch Vet Studies, Edinburgh, Midlothian, Scotland

来源：

CELL REPORTS MEDICINE | 2021年 / 2卷 / 07期

关键词：

SURVIVAL MOTOR-NEURON; INTRONIC REPRESSOR ELEMENT1; VALPROIC ACID INCREASES; MOUSE MODEL; DISEASE SEVERITY; GENE-THERAPY; IN-VITRO; NEUROMUSCULAR-JUNCTION; PROLONGS SURVIVAL; DOUBLE-BLIND;

D O I：

10.1016/j.xcrm.2021.100346

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Spinal muscular atrophy (SMA) is a devastating childhood motor neuron disease that, in the most severe cases and when left untreated, leads to death within the first two years of life. Recent therapeutic advances have given hope to families and patients by compensating for the deficiency in survival motor neuron (SMN) protein via gene therapy or other genetic manipulation. However, it is now apparent that none of these therapies will cure SMA alone. In this review, we discuss the three currently licensed therapies for SMA, briefly highlighting their respective advantages and disadvantages, before considering alternative approaches to increasing SMN protein levels. We then explore recent preclinical research that is identifying and targeting dysregulated pathways secondary to, or independent of, SMN deficiency that may provide adjunctive opportunities for SMA. These additional therapies are likely to be key for the development of treatments that are effective across the lifespan of SMA patients.

引用

页数：19

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