非编码CGG重复扩展疾病:最新进展

ARC Journal of Neuroscience Pub Date : 1900-01-01 DOI:10.20431/2456-057x.0401002

Swatilekha Roy Sarkar, Dr. Rajib Dutta

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引用次数: 0

摘要

不稳定串联重复扩增与多种神经系统疾病有关，这些疾病可能具有或不具有相似的临床特征。已知非编码重复序列扩增可导致肌萎缩性侧索硬化症(ALS)、额颞叶痴呆(FTD)、脊髓小脑共济失调(SCA 1,2,3,6,7,17)和亨廷顿病(HD)。齿状体白斑萎缩症(DRPLA)，良性成人家族性肌阵挛性癫痫(BAFME)，肌强直性营养不良症(DM1)。脊髓球性肌萎缩症(SBMA)、弗里德赖希共济失调症(FRDA)、眼咽肌营养不良症(OPMD)、Jacobsen综合征、脆性XE综合征(FRAXE)等。基因扩增重复疾病可发生在5”UTR、编码外显子、内含子甚至3”UTR区域。

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Non Coding CGG Repeat Expansion Diseases: An Update

Unstable tandem repeat expansions are involved in a wide variety of neurological diseases which may or may not share similar clinical features. Non coding repeat expansions are known to cause amyotrophic lateral sclerosis (ALS), Fronto temporal dementia (FTD), spinocerebellar ataxias (SCA 1,2,3,6,7,17), Huntingtons disease (HD). Dentatorubro pallidoluysian atrophy (DRPLA), benign adult familial myoclonic epilepsies (BAFME), myotonic dystrophies (DM1). Spino bulbar muscular atrophy (SBMA), Friedreich ataxia (FRDA), Oculopharyngealmu scular dystrophy (OPMD), Jacobsen syndrome, Fragile XE syndrome (FRAXE) to name a few. Gene expansion repeat diseases can arise from 5”UTR, coding exons, introns or even 3”UTR region.

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ARC Journal of Neuroscience

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