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

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.

Ström, Anna-LenaUmeå universitet,Institutionen för molekylärbiologi (Medicinska fakulteten) (author)
Hart, Patricia (author)
Brännström, ThomasUmeå universitet,Patologi(Swepub:umu)thbr0001 (author)
Forsgren, Lars (author)
Holmberg, MonicaUmeå universitet,Institutionen för molekylärbiologi (Medicinska fakulteten)(Swepub:umu)moho0003 (author)
Umeå universitetInstitutionen för molekylärbiologi (Medicinska fakulteten) (creator_code:org_t)

By the author/editor: Jonasson, Jenni; Ström, Anna-Lena; Hart, Patricia; Brännström, Thom ...; Forsgren, Lars; Holmberg, Monica

About the subject

NATURAL SCIENCES: NATURAL SCIENCES; and Biological Scien ...; and Biochemistry and ...

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Medical Genetics

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