Disorders of nuclear-mitochondrial intergenomic signaling

Article ID	Journal	Published Year	Pages	File Type
9127004	Gene	2005	7 Pages	PDF

Abstract

Finally, mitochondrial DNA depletion syndromes (MDS), defined by tissue-reduction in mtDNA copy number, have been linked to mutations in two genes involved in deoxyribonucleotide (dNTP) metabolism: thymidine kinase 2 (TK2) and deoxyguanosine kinase (DGUOK).

Keywords

dNTP MNGIE POLG1 deoxyribonucleotide TK2 DGK MPTP ANT MDS Mitochondrial DNA Autosomal Dominant Autosomal Autosomal recessive mitochondrial permeability transition pore Mitochondrial Neurogastrointestinal Encephalomyopathy Depletion adenine nucleotide translocator Thymidine phosphorylase Thymidine kinase 2 Multiple deletions Deoxyguanosine kinase mtDNA SANDO Mitochondrial DNA depletion syndrome PEO Progressive external ophthalmoplegia