title: Repeat instability as the basis for human diseases and as a potential target for therapy.
abstract: Expansions of repetitive DNA sequences cause numerous human neurological and neuromuscular diseases. Ongoing repeat expansions in patients can exacerbate disease progression and severity. As pathogenesis is connected to repeat length, a potential therapeutic avenue is to modulate disease by manipulating repeat expansion size--targeting DNA, the root-cause of symptoms. How repeat instability is mediated by DNA replication, repair, recombination, transcription and epigenetics may explain its contribution to pathogenesis and give insights into therapeutic strategies to block expansions or induce contractions.
authors.affiliation: Program of Genetics & Genome Biology, The Hospital for Sick Children, 101 College Avenue, East Tower 15-312, TMDT Toronto, Ontario, Canada, M5G 1L7.
authors.forename: Arturo
authors.initials: A
authors.lastname: López Castel
authors.forename: John D
authors.initials: JD
authors.lastname: Cleary
authors.forename: Christopher E
authors.initials: CE
authors.lastname: Pearson
mesh_terms: D000818:Animals; D001483:Base Sequence; D004249:DNA Damage / Q000187:drug effects; D004260:DNA Repair / Q000187:drug effects; D004261:DNA Replication / Q000187:drug effects; D004358:Drug Therapy / Q000379:methods; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D042822:Genomic Instability / Q000187:drug effects / Q000235:genetics*; D006801:Humans; D051379:Mice; D008954:Models, Biological; D014158:Transcription, Genetic / Q000187:drug effects; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*; D018911:Trinucleotide Repeats / Q000235:genetics*