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

Jenni Jonasson, Anna-Lena Ström, Patricia Hart, Thomas Brännström, Lars Forsgren, Monica Holmberg

Research output: Contribution to journalArticlepeer-review

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.
Original languageEnglish
Pages (from-to)29-37
Number of pages9
JournalActa Neuropathologica
Volume104
Issue number1
DOIs
Publication statusPublished - Jul 2002

Keywords

  • Retina
  • Hippocampus
  • Brain Chemistry
  • Humans
  • Child
  • Nerve Tissue Proteins
  • Purkinje Cells
  • Child, Preschool
  • Cerebral Cortex
  • Nerve Degeneration
  • Antibodies
  • Adult
  • Middle Aged
  • Olivary Nucleus
  • Biological Markers
  • Female
  • Male
  • Spinocerebellar Ataxias

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