Repeat Expansion Disease: Progress and Puzzles in Disease Pathogenesis

Overview

Journal Nat Rev Genet

Specialty Genetics

Date 2010 Feb 24

PMID 20177426

Citations 244

Authors

Albert R La Spada

J Paul Taylor

Affiliations

Soon will be listed here.

Abstract

Repeat expansion mutations cause at least 22 inherited neurological diseases. The complexity of repeat disease genetics and pathobiology has revealed unexpected shared themes and mechanistic pathways among the diseases, such as RNA toxicity. Also, investigation of the polyglutamine diseases has identified post-translational modification as a key step in the pathogenic cascade and has shown that the autophagy pathway has an important role in the degradation of misfolded proteins--two themes that are likely to be relevant to the entire neurodegeneration field. Insights from repeat disease research are catalysing new lines of study that should not only elucidate molecular mechanisms of disease but also highlight opportunities for therapeutic intervention for these currently untreatable disorders.

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