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

Lookup NU author(s): Professor Rita Horvath


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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.

Publication metadata

Author(s): Remenyi V, Inczedy-Farkas G, Komlosi K, Horvath R, Maasz A, Janicsek I, Pentelenyi K, Gal A, Karcagi V, Melegh B, Molnar MJ

Publication type: Article

Publication status: Published

Journal: Mitochondrial DNA

Year: 2015

Volume: 26

Issue: 4

Pages: 572-578

Print publication date: 01/08/2015

Online publication date: 17/01/2014

Acceptance date: 18/12/2013

ISSN (print): 1940-1736

ISSN (electronic): 1940-1744

Publisher: Taylor & Francis


DOI: 10.3109/19401736.2013.878901


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