Source:http://linkedlifedata.com/resource/pubmed/id/12070661
Switch to
Predicate | Object |
---|---|
rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1
|
pubmed:dateCreated |
2002-6-18
|
pubmed:abstractText |
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.
|
pubmed:language |
eng
|
pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:chemical | |
pubmed:status |
MEDLINE
|
pubmed:month |
Jul
|
pubmed:issn |
0001-6322
|
pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
104
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
29-37
|
pubmed:dateRevised |
2007-11-9
|
pubmed:meshHeading |
pubmed-meshheading:12070661-Adult,
pubmed-meshheading:12070661-Antibodies,
pubmed-meshheading:12070661-Biological Markers,
pubmed-meshheading:12070661-Brain Chemistry,
pubmed-meshheading:12070661-Cerebral Cortex,
pubmed-meshheading:12070661-Child,
pubmed-meshheading:12070661-Child, Preschool,
pubmed-meshheading:12070661-Female,
pubmed-meshheading:12070661-Hippocampus,
pubmed-meshheading:12070661-Humans,
pubmed-meshheading:12070661-Male,
pubmed-meshheading:12070661-Middle Aged,
pubmed-meshheading:12070661-Nerve Degeneration,
pubmed-meshheading:12070661-Nerve Tissue Proteins,
pubmed-meshheading:12070661-Olivary Nucleus,
pubmed-meshheading:12070661-Purkinje Cells,
pubmed-meshheading:12070661-Retina,
pubmed-meshheading:12070661-Spinocerebellar Ataxias
|
pubmed:year |
2002
|
pubmed:articleTitle |
Expression of ataxin-7 in CNS and non-CNS tissue of normal and SCA7 individuals.
|
pubmed:affiliation |
Department of Molecular Biology, Umeå University, Sweden.
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|