Treating MNGIE: Is reducing blood nucleosides the first cure for a mitochondrial disorder?

Neurology

Volumn 67, Issue 8, 2006, Pages 1330-1332

  Chinnery, Patrick F ^a,c   Vissing, John ^b  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b University of Copenhagen   (Denmark)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE KINASE; CYTOCHROME C OXIDASE; ENDOTHELIAL CELL GROWTH FACTOR; MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN; NUCLEOSIDE DERIVATIVE; RNA; THYMIDINE PHOSPHORYLASE;

ALLOGENEIC STEM CELL TRANSPLANTATION; AUTOSOMAL RECESSIVE DISORDER; CELL NUCLEUS; CLINICAL FEATURE; DISEASE COURSE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA REPLICATION; EDITORIAL; ENCEPHALOMYOPATHY; GENE DELETION; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC CODE; HUMAN; MITOCHONDRIAL MYOPATHY; MITOCHONDRIAL RESPIRATION; MUSCLE CELL; NERVE CELL; OXIDATIVE PHOSPHORYLATION; PRIORITY JOURNAL; PROTEIN SYNTHESIS; RISK FACTOR;

BONE MARROW TRANSPLANTATION; GASTROINTESTINAL DISEASES; HUMANS; MITOCHONDRIAL ENCEPHALOMYOPATHIES; NERVOUS SYSTEM DISEASES; NUCLEOSIDES; PLATELET TRANSFUSION;

EID: 33750359435     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000244751.08947.ee     Document Type: Editorial

References (11)

1. Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 1999;283:689-692.
2. Hirano M, Silvestri G, Blake DM, et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology 1994;44:721-727.
3. Marti R, Spinazzola A, Tadesse S, Nishino I, Nishigaki Y, Hirano M. Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays. Clin Chem 2004;50:120-124.
4. Nishigaki Y, Marti R, Copeland WC, Hirano M. Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency. J Clin Invest 2003;111:1913-1921.
5. Nishigaki Y, Marti R, Hirano M. ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy. Hum Mol Genet 2004;13:91-101.
6. Marti R, Verschuuren JJ, Buchman A, et al. Late-onset MNGIE due to partial loss of thymidine phosphorylase activity. Ann Neurol 2005;58:649-652.
7. Spinazzola A, Marti R, Nishino I, et al. Altered thymidine metabolism due to defects of thymidine phosphorylase. J Biol Chem 2002;277:4128-4133.
8. la Marca G, Malvagia S, Casetta B, et al. Pre- and post-dialysis quantitative dosage of thymidine in urine and plasma of a MNGIE patient by using HPLC-ESI-MS/MS. J Mass Spectrom 2006;41:586-592.
9. Lara MC, Weiss B, Illa I, et al. Infusion of platelets transiently reduces nucleoside overload in MNGIE. Neurology 2006;67:1461-1463.
10. Hirano M, Martí R, Casali C, et al. Allogenic stem cell transplantation corrects biochemical derangements in MNGIE. Neurology 2006;67:1458-1460.
11. Kocaefe YC, Erdem-Özdamar S, Sivri HS, Coskun T, Tan E, Özgüc M. Comprehensive analysis reveals distinct mtDNA features in Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome (MNGIE). Neuromuscul Disord 2006;16(suppl 1):S57-S58. Abstract.