脊髓性肌肉萎縮症

脊髓性肌肉萎縮症
脊髓中受脊髓性肌肉萎縮症影响的神经元的部位
类型运动神经元疾病[*]脊髓性肌萎缩[*]疾病
分类和外部资源
醫學專科醫學遺傳學
ICD-9-CM335.1、​335.10
OMIM253300
DiseasesDB14093、​32911、​12315、​34537
MedlinePlus000996
eMedicine1264401
[编辑此条目的维基数据]

脊髓性肌肉萎縮症(英語:Spinal muscular atrophy,簡寫為SMA),是一種遺傳性神經疾病。它會造成運動神經元退化、肌肉萎縮,肌肉無力,最終造成死亡。

病因

控制肌肉的運動神經裡的某種蛋白質運動神經元存活因子英语Survival of motor neuron,SMN)出现問題,这使得神經訊號的傳遞受到阻礙,造成肌肉的收縮失常。控制這種蛋白質形成的基因,稱為SMN1英语SMN1,當這種基因出現問題時,就會產生這種疾病。

反義寡核苷酸藥物治療

所謂反義寡核苷酸是經過化學方式修改過的短鏈單股DNA或RNA,「反義」是指DNA的雙股中非作為「模板」的那一股,而核苷酸則是組成DNA和RNA的基本單位。反義寡核苷酸可結合RNA,藉此改變特定基因的表現,以製造特定蛋白質,或抑制製造會致命的蛋白質。由於此症患者體內缺少SMN基因,但其實人體內還有一個功能類似但具有缺陷的SMN2基因,因此反義寡核苷酸可以用來與SMN2的mRNA結合,讓SMN2基因轉譯出穩定的SMN蛋白,以取代SMN基因的功能,改善症狀。目前已有紐西納辛(Nusinersen,藥品名脊瑞拉)問世,並已有超過40個國家的8400多位患者使用。[1]

參見

参考资料

  1. ^ 科學人雜誌. sa.ylib.com. [2020-06-05]. (原始内容存档于2020-08-27). 

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