Asian-specific mitochondrial genome polymorphism (9-bp deletion) in Hungarian patients with mitochondrial disease. (3rd May 2016)

• Record Type: Journal Article
• Authors: Pentelenyi, Klara; Remenyi, Viktoria; Gal, Aniko; Milley, Gyorgy Mate; Csosz, Aranka; Mende, Balazs Gusztav; Molnar, Maria Judit
• Is Part Of: Mitochondrial DNA. Volume 27:Number 3(2016)
• Page Start: 1697
• Page End: 1700
• Publication Date: 2016-05-03
• Subjects: Anthropological marker -- del 8272-8281 -- haplogroup -- mitochondrial disease -- mitochondrial major deletion
• DOI: 10.3109/19401736.2014.961128
• Languages: English
• ISSNs: 2380-2359

Abstract

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.