Opening book details…
Can I read Alteration of Nucleotide Metabolism: A New Mechanism for Mitochondrial Disorders on EtoBox?
Alteration of Nucleotide Metabolism: A New Mechanism for Mitochondrial Disorders by Ramon Martí; Yutaka Nishigaki; Maya R. Vilá; Michio Hirano is a Medicine article available to read on EtoBox.
What is Alteration of Nucleotide Metabolism: A New Mechanism for Mitochondrial Disorders about?
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disease caused by loss-of-function mutations in the gene encoding thymidine phosphorylase (TP). TP deficiency alters the metabolism of the nucleosides thymidine and deoxyuridine, which, in turn, produces abnormalities of mitochondrial DNA (mtDNA) including depletion, deletions, and point mutations. MNGIE is the best characterized of the expanding number of mitochondrial disorders caused by alterations in the metabolism of nucleosides/nucleotides. Because mitochondria contain their own machinery for nucleoside and nucleotide metabolism and have physically separate nucleotide pools, it is not surprising that disorders of these pathways cause human diseases. Other diseases in this group include mtDNA depletion syndromes caused by mutations on the nuclear genes encoding the mitochondrial thymidine kinase and deoxyguanosine kinase; autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA due to mutations in the genes encoding the muscle-isoform of mitochondrial ADP/ATP translocator; and mitochondrial DNA depletion due to toxicities of nucleoside analogues. Mutations in
Who reads Alteration of Nucleotide Metabolism: A New Mechanism for Mitochondrial Disorders?
It is typically read by researchers, students, and practitioners in Medicine.
- Author
- Ramon Martí; Yutaka Nishigaki; Maya R. Vilá; Michio Hirano
- Publisher
- Walter de Gruyter GmbH
- Published
- 2003
- Language
- EN
- Field
- Medicine (Health Sciences)