title: 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.
authors.affiliation: a Institute of Genomic Medicine and Rare Disorders, Semmelweis University , Budapest , Hungary and.
authors.forename: Klara
authors.initials: K
authors.lastname: Pentelenyi
authors.affiliation: a Institute of Genomic Medicine and Rare Disorders, Semmelweis University , Budapest , Hungary and.
authors.forename: Viktoria
authors.initials: V
authors.lastname: Remenyi
authors.affiliation: a Institute of Genomic Medicine and Rare Disorders, Semmelweis University , Budapest , Hungary and.
authors.forename: Aniko
authors.initials: A
authors.lastname: Gal
authors.affiliation: a Institute of Genomic Medicine and Rare Disorders, Semmelweis University , Budapest , Hungary and.
authors.forename: Gyorgy Mate
authors.initials: GM
authors.lastname: Milley
authors.affiliation: b Laboratory of Archeogenetics , Institute of Archeology, Hungarian Academy of Sciences , Budapest , Hungary.
authors.forename: Aranka
authors.initials: A
authors.lastname: Csosz
authors.affiliation: b Laboratory of Archeogenetics , Institute of Archeology, Hungarian Academy of Sciences , Budapest , Hungary.
authors.forename: Balazs Gusztav
authors.initials: BG
authors.lastname: Mende
authors.affiliation: a Institute of Genomic Medicine and Rare Disorders, Semmelweis University , Budapest , Hungary and.
authors.forename: Maria Judit
authors.initials: MJ
authors.lastname: Molnar
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D054629:Genome, Mitochondrial; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D006814:Hungary; D008297:Male; D028361:Mitochondrial Diseases / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial
keywords: Anthropological marker; del 8272-8281; haplogroup; mitochondrial disease; mitochondrial major deletion