Source:http://linkedlifedata.com/resource/pubmed/id/10590411
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
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| pubmed:dateCreated |
2000-1-20
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| pubmed:abstractText |
We identified 5 patients with subnormal erythrocyte lactate transport plus symptoms and signs of muscle injury on exercise and heat exposure. All had transport rates below the 95% envelope for normals. Three cases had rates 40-50% of mean normal. One was found to have a missense mutation in monocarboxylate transporter 1 (MCT1), the gene for the red cell lactate transporter (also expressed in skeletal muscle), at a conserved site, which was not mutated in a cohort of 90 normal humans. The other 2 cases had a different missense mutation (at a nonconserved site), which was also not mutated in the normal cohort. All 3 patients were heterozygotes. We presume that these mutations are responsible for their subnormal lactate transport, and hence their muscle injury under environmental stress; homozygous patients should be more seriously compromised. The other 2 cases had lactate transport rates 60-65% of mean normal, and their MCT1 revealed a third mutation, which proved to be a common polymorphism in the normal cohort. These 2 patients may be physiologic outliers in lactate transport, with their muscle damage arising from some other genetic defect.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Carrier Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/DNA, Complementary,
http://linkedlifedata.com/resource/pubmed/chemical/Lactic Acid,
http://linkedlifedata.com/resource/pubmed/chemical/Monocarboxylic Acid Transporters,
http://linkedlifedata.com/resource/pubmed/chemical/RNA, Messenger
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| pubmed:status |
MEDLINE
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| pubmed:month |
Jan
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| pubmed:issn |
0148-639X
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| pubmed:author | |
| pubmed:copyrightInfo |
Copyright 2000 John Wiley & Sons, Inc.
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| pubmed:issnType |
Print
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| pubmed:volume |
23
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
90-7
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| pubmed:dateRevised |
2006-11-15
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| pubmed:meshHeading |
pubmed-meshheading:10590411-Adult,
pubmed-meshheading:10590411-Arm,
pubmed-meshheading:10590411-Biological Transport, Active,
pubmed-meshheading:10590411-Carbohydrate Metabolism, Inborn Errors,
pubmed-meshheading:10590411-Carrier Proteins,
pubmed-meshheading:10590411-DNA, Complementary,
pubmed-meshheading:10590411-Electrophoresis, Agar Gel,
pubmed-meshheading:10590411-Erythrocytes,
pubmed-meshheading:10590411-Humans,
pubmed-meshheading:10590411-Lactic Acid,
pubmed-meshheading:10590411-Male,
pubmed-meshheading:10590411-Middle Aged,
pubmed-meshheading:10590411-Monocarboxylic Acid Transporters,
pubmed-meshheading:10590411-Muscle, Skeletal,
pubmed-meshheading:10590411-Mutation,
pubmed-meshheading:10590411-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:10590411-RNA, Messenger,
pubmed-meshheading:10590411-Regional Blood Flow,
pubmed-meshheading:10590411-Reverse Transcriptase Polymerase Chain Reaction
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| pubmed:year |
2000
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| pubmed:articleTitle |
Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transport.
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| pubmed:affiliation |
Biochemical Pathology Division, Environmental Pathology Department, Room M093C, Armed Forces Institute of Pathology, Washington, DC 20306-6000, USA.
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| pubmed:publicationType |
Journal Article,
Clinical Trial,
Research Support, Non-U.S. Gov't
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