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

Abstract

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.

• LHON
• MELAS
• MERRF
• mitochondrial deletions
• mutation frequency
• NARP

Acknowledgements

The authors would like to thank both their patients for participating in the study as well as Gyorgyi Bathori, Metta Stralendorff, Marianna Marko, Monika Sary and Edit Papp for their technical help.

Declaration of interest

The authors declare no conflict of interest. The study was supported by the TÁMOP-4-2-1/B-03/1/KMR-2010-001, KTIA_AIK_12-1-2013-0017 and BIOINF09-TÉT_10-1-2011-0058 grants