Literature summary for 2.4.2.4 extracted from

Hirano, M.; Lagier-Tourenne, C.; Valentino, M.L.; Marti, R.; Nishigaki, Y.
Thymidine phosphorylase mutations cause instability of mitochondrial DNA (2005), Gene, 354, 152-156.

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Application

Application	Comment	Organism
medicine	mitochondrial neurogastrointestinal encephalomyopathy is an autosomal recessive disorder characterized by ptosis and progressive external ophthalmoplegia, peripheral neuropathy, severe gastrointestinal dysmotility, cachexia and leukoencephalopathy, morphologically abnormal mitochondria and defects of respiratory chain enzymes. Patients harbor depletion, multiple deletions, and point mutations of mitochondrial DNA. This disorder is caused by loss-offunction mutations in the gene encoding thymidine phosphorylase. In patients with mitochondrial neurogastrointestinal encephalomyopathy, thymidine phosphorylase activity is very low or absent resulting in dramatically elevated levels of plasma thymidine and deoxyuridine. It is hypothesized that the increased levels of thymidine and deoxyuridine cause mitochondrial nucleotide pool imbalances that, in turn, generate mtDNA alterations	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
cytosol	-	Homo sapiens	5829	-

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P19971	-	-

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Release 2023.1 (January 2023)