Noncoding Repeat Expansion Diseases: Molecular Mechanisms and Therapeutics

Dear Colleagues, 

More than 50 inherited diseases are caused by unstable nucleotide repeat expansions. The nucleotide repeat motif varies in size from 3 to 12 base pairs, which in expanded chromosomes can range from 11 to over 10,000 copies. Most nucleotide repeat expansion tracts are located in gene non-coding regions. The expansion of these repeats causes neurodevelopmental, neuromuscular or neurodegenerative disease by a diversity of mechanisms, affecting several tissues and organs. To each of these conditions, there is associated a highly variable interindividual and interfamilial clinical presentation. The number of copies of the expanded repeat can determine the pathological mechanism and consequently the condition present in each expansion carrier. The purity or interrupted nature of the repeat sequence also influences disease manifestation. 

In non-coding gene regions, nucleotide repeat expansions can lead to epigenetic alterations with transcriptional repression due to CpG methylation of the repeat in fragile X syndrome, or histone hypermethylation of the disease gene in Friedreich ataxia. Expanded RNA repeats are toxic by a complex mechanism involving the formation of RNA foci that recruit RNA-binding proteins, originating alternative mis-splicing of multiple genes or/and by leading to repeat-associated non-AUG translation. 

The purpose of this Special Issue is to host both original contributions and review articles on the current molecular understanding of nucleotide repeat expansion diseases and related molecular therapies. 

Dr. Isabel Silveira
Guest Editor

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