Clinical and molecular features of mitochondrial DNA depletion syndromes.

TitleClinical and molecular features of mitochondrial DNA depletion syndromes.
Publication TypeJournal Article
Year of Publication2009
AuthorsSpinazzola, A, Invernizzi, F, Carrara, F, Lamantea, E, Donati, A, Dirocco, M, Giordano, I, Meznaric-Petrusa, M, Baruffini, E, Ferrero, I, Zeviani, M
JournalJ Inherit Metab Dis
Date Published2009 Apr
KeywordsAcidosis, Lactic, Age of Onset, Brain, Child, Child, Preschool, Cohort Studies, DNA, Mitochondrial, Electroencephalography, Electromyography, Female, Humans, Infant, Infant, Newborn, Liver, Magnetic Resonance Imaging, Male, Mitochondrial Diseases, Mitochondrial Encephalomyopathies, Mitochondrial Myopathies, Muscle, Skeletal, Mutation, Thymidine Kinase

Mitochondrial DNA depletion syndromes (MDSs) form a group of autosomal recessive disorders characterized by profoundly decreased mitochondrial DNA copy numbers in affected tissues. Three main clinical presentations are known: myopathic, encephalomyopathic and hepatocerebral. The first is associated with mutations in thymidine kinase 2 (TK2) and p53-induced ribonucleotide reductase B subunit (RRM2B); the second with mutations in succinate synthase A (SUCLA2) and B (SUCLG1); the third with mutations in Twinkle (PEO1), pol-gammaA (POLG1), deoxyguanosine kinase (DGUOK) and MPV17 (MPV17). In this work, we review the MDS-associated phenotypes and present our own experience of 32 MDS patients, with the aim of defining the mutation frequency of the known genes, the clinical spectrum of the diseases, and the genotype-phenotype correlations. Five of our patients carried previously unreported mutations in one of the eight MDS genes.

Alternate JournalJ. Inherit. Metab. Dis.
Citation Key10.1007/s10545-008-1038-z
PubMed ID19125351
Grant ListGGP07019 / / Telethon / Italy