Retrospective assessment of the most common mitochondrial DNA mutations in a large Hungarian cohort of suspect mitochondrial cases

Viktoria Remenyi, Gabriella Inczedy-Farkas, Katalin Komlosi, Rita Horvath, Anita Maasz, Ingrid Janicsek, Klara Pentelenyi, Aniko Gal, Veronika Karcagi, Bela Melegh, Maria Judit Molnar

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Prevalence estimations for mitochondrial disorders still vary widely and only few epidemiologic studies have been carried out so far. With the present work we aim to give a comprehensive overview about frequencies of the most common mitochondrial mutations in Hungarian patients. A total of 1328 patients were tested between 1999 and 2012. Among them, 882 were screened for the m.3243A > G, m.8344A > G, m.8993T > C/G mutations and deletions, 446 for LHON primary mutations. The mutation frequency in our cohort was 2.61% for the m.3243A > G, 1.47% for the m.8344A > G, 17.94% for Leber's Hereditary Optic Neuropathy (m.3460G > A, m.11778G > A, m.14484T > C) and 0.45% for the m.8993T > C/G substitutions. Single mtDNA deletions were detected in 14.97%, while multiple deletions in 6.01% of the cases. The mutation frequency in Hungarian patients suggestive of mitochondrial disease was similar to other Caucasian populations. Further retrospective studies of different populations are needed in order to accurately assess the importance of mitochondrial diseases and manage these patients.

Original languageEnglish
Pages (from-to)572-578
Number of pages7
JournalMitochondrial DNA
Issue number4
Publication statusPublished - Aug 1 2015



  • LHON
  • Mitochondrial deletions
  • Mutation frequency
  • NARP

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics

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