title: Expression of ataxin-7 in CNS and non-CNS tissue of normal and SCA7 individuals.
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.
authors.affiliation: Department of Molecular Biology, Umeå University, Sweden.
authors.forename: Jenni
authors.initials: J
authors.lastname: Jonasson
authors.forename: Anna-Lena
authors.initials: AL
authors.lastname: Ström
authors.forename: Patricia
authors.initials: P
authors.lastname: Hart
authors.forename: Thomas
authors.initials: T
authors.lastname: Brännström
authors.forename: Lars
authors.initials: L
authors.lastname: Forsgren
authors.forename: Monica
authors.initials: M
authors.lastname: Holmberg
mesh_terms: D000328:Adult; D000906:Antibodies; D000067719:Ataxin-7; D015415:Biomarkers; D001923:Brain Chemistry; D002540:Cerebral Cortex / Q000737:chemistry / Q000378:metabolism / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D006624:Hippocampus / Q000737:chemistry / Q000378:metabolism / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009410:Nerve Degeneration / Q000473:pathology; D009419:Nerve Tissue Proteins / Q000032:analysis / Q000096:biosynthesis* / Q000276:immunology; D009847:Olivary Nucleus / Q000737:chemistry / Q000378:metabolism / Q000473:pathology; D011689:Purkinje Cells / Q000737:chemistry / Q000378:metabolism / Q000473:pathology; D012160:Retina / Q000737:chemistry / Q000378:metabolism; D020754:Spinocerebellar Ataxias / Q000378:metabolism* / Q000473:pathology
chemical_list: C000593829:ATXN7 protein, human; D000906:Antibodies; D000067719:Ataxin-7; D015415:Biomarkers; D009419:Nerve Tissue Proteins