Retrospective assessment of the most common mitochondrial DNA mutations in a large Hungarian cohort of suspect mitochondrial cases.
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.
Institute of Genomic Medicine and Rare Disorders, Semmelweis University , Budapest , Hungary .
Viktoria
V
Remenyi
Gabriella
G
Inczedy-Farkas
Katalin
K
Komlosi
Rita
R
Horvath
Anita
A
Maasz
Ingrid
I
Janicsek
Klara
K
Pentelenyi
Aniko
A
Gal
Veronika
V
Karcagi
Bela
B
Melegh
Maria Judit
MJ
Molnar
D000293:Adolescent; D000328:Adult; D002648:Child; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000737:chemistry* / Q000235:genetics; D005260:Female; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D028361:Mitochondrial Diseases / Q000453:epidemiology / Q000235:genetics; D009154:Mutation; D012189:Retrospective Studies
D004272:DNA, Mitochondrial
LHON; MELAS; MERRF; NARP; mitochondrial deletions; mutation frequency