RNA Helicases in Microsatellite Repeat Expansion Disorders and Neurodegeneration.

ABSTRACT: Short repeated sequences of 3-6 nucleotides are causing a growing number of over 50 microsatellite expansion disorders, which mainly present with neurodegenerative features. Although considered rare diseases in relation to the relatively low number of cases, these primarily adult-onset conditions, often debilitating and fatal in absence of a cure, collectively pose a large burden on healthcare systems in an ageing world population. The pathological mechanisms driving disease onset are complex implicating several non-exclusive mechanisms of neuronal injury linked to RNA and protein toxic gain- and loss- of functions. Adding to the complexity of pathogenesis, microsatellite repeat expansions are polymorphic and found in coding as well as in non-coding regions of genes. They form secondary an

SUBMITTER: Castelli LM 

PROVIDER: S-EPMC9133428 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature