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- Title
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
- Authors
Nishino, I; Spinazzola, A; Hirano, M
- Abstract
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.
- Publication
Science (New York, N.Y.), 1999, Vol 283, Issue 5402, p689
- ISSN
0036-8075
- Publication type
Journal Article
- DOI
10.1126/science.283.5402.689