Research Article  Limited dCTP Availability Accounts for
Mitochondrial DNA Depletion in Mitochondrial
Neurogastrointestinal Encephalomyopathy (MNGIE)    • Emiliano
González-Vioque,      Affiliations: Laboratori de Patologia
Mitocondrial, Institut de Recerca Hospital Universitari Vall
d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain,
Biomedical Network Research Centre on Rare Diseases (CIBERER),
Instituto de Salud Carlos III, Madrid, Spain    • Javier Torres-
Torronteras,     • Antoni L. Andreu,     • Ramon Martí mail
• Published: March 31, 2011   • DOI:
10.1371/journal.pgen.1002035   Mitochondrial
neurogastrointestinal encephalomyopathy (MNGIE) is a severe
human disease caused by mutations in TYMP, the gene encoding
thymidine phosphorylase (TP). It belongs to a broader group of
disorders characterized by a pronounced reduction in
mitochondrial DNA (mtDNA) copy number in one or more tissues. In
most cases, these disorders are caused by mutations in genes
involved in deoxyribonucleoside triphosp