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Arch Neurol. 2003 Jan;60(1):97-103.

A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product.

Author information

  • 1Department of Human Genetics, University of Utah, Salt Lake City, USA.

Abstract

CONTEXT:

Polyglutamine-mediated neurodegeneration in spinocerebellar ataxia type 7 (SCA7) involves specific central nervous system structures despite widespread expression of the mutant ataxin-7 protein.

OBJECTIVE:

To determine whether expression of multiple gene products could contribute to selective neurodegeneration in SCA7.

RESULTS:

We identified a novel SCA7 transcript and protein, both of which are enriched within the central nervous system. An isoform-specific antibody revealed that the novel ataxin-7 variant, in contrast with the previously described protein, localizes to neuronal cytoplasm and not to inclusion bodies present within the tissues of patients with SCA7.

CONCLUSIONS:

In addition to expanding our understanding of SCA7 gene expression, identification of a novel ataxin-7 protein enriched in the central nervous system suggests that expression of multiple polyglutamine-containing proteins may play a role in generating the neurodegenerative patterns characteristic of SCA7 and other polyglutamine expansion diseases.

PMID:
12533095
[PubMed - indexed for MEDLINE]
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