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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
10
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pubmed:dateCreated |
1997-2-24
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pubmed:abstractText |
Islet cell antibodies (ICA), autoantibodies to glutamic acid decarboxylase (GAD) and HLA genotypes were examined in 31 patients with diabetes and a mitochondrial gene mutation located at base pair 3243 (mtDNA 3243 mutation). ICA was detected in 42% (13/31) of these patients compared to 0 of 90 among healthy control subjects. The ICA showed a "non-restricted" pattern of staining in all 13 ICA-positive patients. In a sensitive radioligand assay only 2 of 31 (6%) diabetic patients with the mutation were positive for both GAD65 autoantibodies and ICA, while the remaining 29 patients were GAD65 antibody negative. The ICA-positive patients had an increased frequency of the HLA-DQA1*0301 allele compared to control subjects (p < 0.05). Of the diabetic patients with the mutation 45% (14/31) had progressive clinical course of beta-cell failure. These results indicate that patients with an mtDNA 3243 mutation may develop islet autoimmunity associated with ICA and GAD autoantibodies. We hypothesize that the presence of HLA-DQA1*0301 in individuals with the mtDNA 3243 mutation increases the risk for diabetes and associated autoantibodies against islet cell antigens.
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pubmed:grant | |
pubmed:commentsCorrections | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Autoantibodies,
http://linkedlifedata.com/resource/pubmed/chemical/DNA, Mitochondrial,
http://linkedlifedata.com/resource/pubmed/chemical/Glutamate Decarboxylase,
http://linkedlifedata.com/resource/pubmed/chemical/HLA-DQ Antigens,
http://linkedlifedata.com/resource/pubmed/chemical/HLA-DQ alpha-Chains,
http://linkedlifedata.com/resource/pubmed/chemical/HLA-DQA1 antigen,
http://linkedlifedata.com/resource/pubmed/chemical/islet cell antibody
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0012-186X
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
39
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1196-200
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:8897007-Adult,
pubmed-meshheading:8897007-Age of Onset,
pubmed-meshheading:8897007-Aged,
pubmed-meshheading:8897007-Aged, 80 and over,
pubmed-meshheading:8897007-Autoantibodies,
pubmed-meshheading:8897007-DNA, Mitochondrial,
pubmed-meshheading:8897007-Diabetes Mellitus,
pubmed-meshheading:8897007-Female,
pubmed-meshheading:8897007-Glutamate Decarboxylase,
pubmed-meshheading:8897007-HLA-DQ Antigens,
pubmed-meshheading:8897007-HLA-DQ alpha-Chains,
pubmed-meshheading:8897007-Humans,
pubmed-meshheading:8897007-Male,
pubmed-meshheading:8897007-Middle Aged,
pubmed-meshheading:8897007-Point Mutation,
pubmed-meshheading:8897007-Reference Values,
pubmed-meshheading:8897007-Risk Factors
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pubmed:year |
1996
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pubmed:articleTitle |
Association between HLA and islet cell antibodies in diabetic patients with a mitochondrial DNA mutation at base pair 3243.
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pubmed:affiliation |
Department of Endocrinology and Metabolism, Toranomon Hospital, Tokyo, Japan.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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