Clinical and molecular features of mitochondrial DNA depletion syndromes

A. Spinazzola, F. Invernizzi, F. Carrara, E. Lamantea, A. Donati, M. DiRocco, I. Giordano, M. Meznaric-Petrusa, E. Baruffini, I. Ferrero, M. Zeviani

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Abstract

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-γA (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.

Original languageEnglish
Pages (from-to)143-158
Number of pages16
JournalJournal of Inherited Metabolic Disease
Volume32
Issue number2
DOIs
Publication statusPublished - 2009

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ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Spinazzola, A., Invernizzi, F., Carrara, F., Lamantea, E., Donati, A., DiRocco, M., Giordano, I., Meznaric-Petrusa, M., Baruffini, E., Ferrero, I., & Zeviani, M. (2009). Clinical and molecular features of mitochondrial DNA depletion syndromes. Journal of Inherited Metabolic Disease, 32(2), 143-158. https://doi.org/10.1007/s10545-008-1038-z