Expression of ataxin-7 in CNS and non-CNS tissue of normal and SCA7 individuals

Acta Neuropathol. 2002 Jul;104(1):29-37. doi: 10.1007/s00401-001-0514-4. Epub 2002 Mar 2.

Abstract

Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disorder primarily affecting the cerebellum, brain stem and retina. The disease is caused by an expanded polyglutamine tract in the protein ataxin-7. In this study we analyzed the expression pattern of ataxin-7 in CNS and non-CNS tissue from three SCA7 patients and age-matched controls. SCA7 is a rare autosomal dominant disorder, limiting the number of patients available for analysis. We therefore compiled data on ataxin-7 expression from all SCA7 patients (n=5) and controls (n=7) published to date, and compared with the results obtained in this study. Expression of ataxin-7 was found in neurons throughout the CNS and was highly abundant in Purkinje cells of the cerebellum, in regions of the hippocampus and in cerebral cortex. Ataxin-7 expression was not restricted to regions of pathology, and there were no apparent regional differences in ataxin-7 expression patterns between patients and controls. The subcellular distribution of ataxin-7 was primarily nuclear in all brain regions studied. In cerebellar Purkinje cells, however, differences in subcellular distribution of ataxin-7 were observed between patients and controls of different ages. Here we provide an increased understanding of the distribution of ataxin-7, and the possible implication of subcellular localization of this protein on disease pathology is discussed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Antibodies
  • Ataxin-7
  • Biomarkers
  • Brain Chemistry*
  • Cerebral Cortex / chemistry
  • Cerebral Cortex / metabolism
  • Cerebral Cortex / pathology
  • Child
  • Child, Preschool
  • Female
  • Hippocampus / chemistry
  • Hippocampus / metabolism
  • Hippocampus / pathology
  • Humans
  • Male
  • Middle Aged
  • Nerve Degeneration / pathology
  • Nerve Tissue Proteins / analysis
  • Nerve Tissue Proteins / biosynthesis*
  • Nerve Tissue Proteins / immunology
  • Olivary Nucleus / chemistry
  • Olivary Nucleus / metabolism
  • Olivary Nucleus / pathology
  • Purkinje Cells / chemistry
  • Purkinje Cells / metabolism
  • Purkinje Cells / pathology
  • Retina / chemistry
  • Retina / metabolism
  • Spinocerebellar Ataxias / metabolism*
  • Spinocerebellar Ataxias / pathology

Substances

  • ATXN7 protein, human
  • Antibodies
  • Ataxin-7
  • Biomarkers
  • Nerve Tissue Proteins