脊髄小脳変性症の分子病態

概要

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Molecular genetics has made it possible to identify causative genes in hereditary spinocerebellar degenerations (SCD) with autosomal dominant inheritance. Most of dominant SCDs belong to "polyglutamine diseases" resulting from unstable expansion of CAG repeat tracts present in the coding region of each gene. Nuclear inclusions found in patients' brain are now believed to be rather protective to affected neurons, and insoluble aggregates formed by expanded polyglutamine oligomers play an important role in the progressive dysfunction occurring in nuclei of these disorders. Molecular mechanisms of rare autosomal recessive SCDs have recently been investigated. In Japan, Friedreich ataxia, whichi is the most common form of hereditary SCDs in the western population, is absent, and instead, early onset ataxia associated with ocular motor apraxia and hypoalbuminemia (EAOH) has been a predominant form among recessive SCDs. The causative gene product of EAOH, aprataxin, is suggested to be involved in single DNA break repair mechanism. In this review, recent progress in the study concerning molecular pathomechanism of SCDs will be briefly summarized.
新潟大学の論文
2005-09-10