Asian-specific mitochondrial genome polymorphism (9-bp deletion) in Hungarian patients with mitochondrial disease

Abstract

A 9-bp deletion of the mtDNA is known as an anthropological marker of people with East-Asian origin. This 9-bp mtDNA deletion was analyzed in 1073 Hungarians with suspected mitochondrial disease and in 468 healthy control individuals. Fourteen cases with the 9-bp deletion were found in the cohort of mitochondrial patients, and one individual from 468 controls. In six cases the 9-bp deletion was present together with pathogenic major deletions in the mitochondrial genome. In one patient we found a frame shift mutation in the D-loop region, and in another family a pathogenic m.8322 A > G mutation in the tRNA^Lys gene. Although the 9-bp deletion is common in the populations of the Pacific region and Asia, it is present in the Hungarian population as well. This 9-bp deletion may induce instability of the mtDNA and may provoke the introduction of other pathogenic mutations.

• Anthropological marker
• del 8272-8281
• haplogroup
• mitochondrial disease
• mitochondrial major deletion

Acknowledgements

The authors would like to thank Gyorgyi Bathori, Marianna Marko, Monika Sary and Metta Stralendorff for their technical help.

Declaration of interest

The work was supported by the BIOINF09TÉT_10-1-2011-0058 and Hungarian Brain Research Program – Grant, No. KTIA_13_NAP-A-III/6. The authors declare no conflict of interest.