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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
22
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pubmed:dateCreated |
2002-10-10
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pubmed:abstractText |
Loss-of-function mutations in the parkin gene were first identified in autosomal recessive juvenile parkinsonism (AR-JP). Subsequently, parkin mutations were found in many early-onset patients with Parkinson's disease (PD) (<45 years at onset). We hypothesized that parkin gene expression also may contribute to the age-associated risk of idiopathic PD (>50 years at onset). Two single-nucleotide polymorphisms within the parkin core promoter have been identified and assessed. We show one of the variants, -258 T/G, is located in a region of DNA that binds nuclear protein from human substantia nigra in vitro and functionally affects gene transcription. Furthermore, the -258 T/G polymorphism is genetically associated with idiopathic PD, as assessed in a large population-based series of cases and controls. Our results further implicate the parkin gene in the development of Parkinson's disease.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0964-6906
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
15
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pubmed:volume |
11
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2787-92
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:12374768-Aged,
pubmed-meshheading:12374768-Base Sequence,
pubmed-meshheading:12374768-Binding Sites,
pubmed-meshheading:12374768-Case-Control Studies,
pubmed-meshheading:12374768-Cell Line,
pubmed-meshheading:12374768-DNA,
pubmed-meshheading:12374768-Humans,
pubmed-meshheading:12374768-Ligases,
pubmed-meshheading:12374768-Molecular Sequence Data,
pubmed-meshheading:12374768-Mutation,
pubmed-meshheading:12374768-Nerve Tissue Proteins,
pubmed-meshheading:12374768-Nuclear Proteins,
pubmed-meshheading:12374768-Parkinson Disease,
pubmed-meshheading:12374768-Polymorphism, Single Nucleotide,
pubmed-meshheading:12374768-Promoter Regions, Genetic,
pubmed-meshheading:12374768-Substantia Nigra,
pubmed-meshheading:12374768-Transfection,
pubmed-meshheading:12374768-Ubiquitin-Protein Ligases
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pubmed:year |
2002
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pubmed:articleTitle |
Functional association of the parkin gene promoter with idiopathic Parkinson's disease.
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pubmed:affiliation |
Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, FL 32224, USA.
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pubmed:publicationType |
Journal Article,
In Vitro,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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