Molecular genetics of neurologic diseases

Abstract

Application of molecular genetics has made it possible to identify genes for many hereditary neurodegenerative diseases, among which triplet repeat diseases have been the focus of interest as a common mechanism for neurodegenerative diseases. Triplet repeat diseases are diseases caused by unstable expansion of trinucleotide repeats in the causative genes. In triplet repeat diseases caused by expansion of CAG trinucleotide repeats, the CAG repeat code for polyglutamine stretches. Recent studies have revealed that the existance of proteins with expanded polyglutamine streches results in aggregate formation and induces apoptosis. Suppression of aggregate formation or apoptosis is expected to bring new avenues for developing therapies for these diseases.