Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD

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• 作者：Michael Niblock ; Bradley N. Smith ; Youn-Bok Lee…
• 关键词：C9orf72 ; Amyotrophic lateral sclerosis ; Frontotemporal dementia ; RNA ; Repeats ; Splicing
• 刊名：Acta Neuropathologica Communications
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：4
• 期：1
• 全文大小：2,972 KB
• 刊物主题：Neurosciences;
• 出版者：BioMed Central
• ISSN：2051-5960

文摘

Introduction The most common forms of amyotrophic lateral sclerosis and frontotemporal dementia are caused by a large GGGGCC repeat expansion in the first intron of the C9orf72 gene. The repeat-containing intron should be degraded after being spliced out, however GGGGCC repeat-containing RNA species either accumulate in nuclear foci or are exported to the cytoplasm where they are translated into potentially toxic dipeptide repeat proteins by repeat-associated non-AUG-initiated (RAN) translation.