Progress on genetics and therapy in the spinal muscular atrophy

VernacularTitle:脊髓性肌萎缩症遗传学及治疗研究进展
Author: Lei ZHANG ; Xiaolin JIE ; Juan LI ; Xiaojing CHAI ; Junfang ZHU
Keywords: spinal muscular atrophy; survival motor neuron; gene therapy
From: Journal of Clinical Pediatrics 2017;35(8):632-635
CountryChina
Language:Chinese
Abstract: Spinal muscular atrophy (SMA) is a group of neuromuscular disorders, caused by degeneration of the motor neurons in the anterior horn of the spinal cord, with prevalence of about 1 in 6000 to 1 in 10000 in newborn. The gene carrying frequency is about 1 in 40 to 1 in 50 all over the world. SMA is one of the most common autosomal recessive diseases causing infant death. SMA mainly refers to SMN1 dependent caused by SMN1 gene mutations. Noninvasiveness and specificity make genetic testing a recommended method for diagnosis of SMA. In addition to conventional methods such as neural nutrition, muscle exercise, etc., there is no specific treatment for SMA up to now. Nevertheless, HDAC inhibitors deserve attention as they are the only drugs completed Phase Ⅲ clinical trials to date. Furthermore, other ways as small-molecule SMN enhancers, induced pluripotent stem cell (iPSC), antisense oligonucleotides to correct SMN2 splicing, etc, were still on the way of in vitro stage at present.