儿童型脊髓性肌萎缩症遗传学研究进展  

Advances in the genetics of spinal muscular atrophy in childhood

作　　者：刘维亮[1] 李芳(综述)[1] 麻宏伟(审校)[2] 

机构地区：[1]贵阳医学院附属医院儿科,550004 [2]中国医科大学附属盛京医院发育儿科,沈阳110004

出　　处：《国际儿科学杂志》2010年第5期540-541,共2页International Journal of Pediatrics

摘　　要：儿童型脊髓性肌萎缩症是常见的遗传性神经肌肉病,为常染色体隐性遗传.SMN1基因纯合缺失和微小突变是该病的主要病因,其高度同源拷贝SMN2基因可调节疾病的严重性,两个基因间功能的不同是编码区单个核苷酸不同致沉默突变使SMN2转录翻译大为降低.组蛋白脱乙酰基酶抑制剂在临床治疗实验中已显示出较好前景.Spinal muscular atrophy in childhood is one of the most common neuromuscular disorders with an autosomal recessive mode of inheritance. The main pathogenesis is homozygous loss and small intragenic mutations of the SMN1. SMN2 ,as a very identical copy of SMN1, modulates the disease severity. The functional difference between both genes is a variance of single nucleotide within the coding region, causing silent mutation obviously to decrease SMN2 transcripts. Histone deacetylase inhibitors have been shown better perspective in clinical trials.

关 键 词：儿童型脊髓性肌萎缩症 SMN基因 

分 类 号：R746.4[医药卫生—神经病学与精神病学]