RNA-mediated pathogenic mechanisms in polyglutamine diseases and amyotrophic lateral sclerosis.

作者: Ho Yin Edwin Chan

DOI: 10.3389/FNCEL.2014.00431

关键词: GeneticsRNATrinucleotide repeat expansionCellGene silencingC9orf72RNA interferenceTranslation (biology)EpigeneticsBiology

摘要: Gene transcription produces a wide variety of ribonucleic acid (RNA) species in eukaryotes. Individual types RNA, such as messenger, structural and regulatory are known to play distinct roles the cell. Recently, researchers have identified large number RNA-mediated toxicity pathways that significant pathogenic numerous human disorders. In this article, we describe various common RNA pathways, namely epigenetic gene silencing, nucleolar stress, nucleocytoplasmic transport, bi-directional transcription, repeat-associated non-ATG translation, foci formation cellular protein sequestration. We emphasize mechanisms involve nucleotide repeat expansion, those related polyglutamine (polyQ) disorders frontotemporal lobar degeneration-amyotrophic lateral sclerosis.

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