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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
5402
|
| pubmed:dateCreated |
1999-2-11
|
| pubmed:abstractText |
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive human disease associated with multiple deletions of skeletal muscle mitochondrial DNA (mtDNA), which have been ascribed to a defect in communication between the nuclear and mitochondrial genomes. Examination of 12 MNGIE probands revealed homozygous or compound-heterozygous mutations in the gene specifying thymidine phosphorylase (TP), located on chromosome 22q13.32-qter. TP activity in leukocytes from MNGIE patients was less than 5 percent of controls, indicating that loss-of-function mutations in TP cause the disease. The pathogenic mechanism may be related to aberrant thymidine metabolism, leading to impaired replication or maintenance of mtDNA, or both.
|
| pubmed:grant | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jan
|
| pubmed:issn |
0036-8075
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:day |
29
|
| pubmed:volume |
283
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
689-92
|
| pubmed:dateRevised |
2007-11-14
|
| pubmed:meshHeading |
pubmed-meshheading:9924029-Amino Acid Sequence,
pubmed-meshheading:9924029-Chromosomes, Human, Pair 22,
pubmed-meshheading:9924029-DNA, Mitochondrial,
pubmed-meshheading:9924029-Exons,
pubmed-meshheading:9924029-Gastrointestinal Motility,
pubmed-meshheading:9924029-Humans,
pubmed-meshheading:9924029-Introns,
pubmed-meshheading:9924029-Mitochondria, Muscle,
pubmed-meshheading:9924029-Mitochondrial Encephalomyopathies,
pubmed-meshheading:9924029-Molecular Sequence Data,
pubmed-meshheading:9924029-Mutation,
pubmed-meshheading:9924029-Mutation, Missense,
pubmed-meshheading:9924029-Neovascularization, Physiologic,
pubmed-meshheading:9924029-Polymorphism, Genetic,
pubmed-meshheading:9924029-RNA Splicing,
pubmed-meshheading:9924029-Sequence Deletion,
pubmed-meshheading:9924029-Thymidine,
pubmed-meshheading:9924029-Thymidine Phosphorylase
|
| pubmed:year |
1999
|
| pubmed:articleTitle |
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
|
| pubmed:affiliation |
Columbia University College of Physicians and Surgeons, Department of Neurology, 630 West 168 Street, P & S 4-443, New York, NY 10032, USA.
|
| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
|