title: Mitochondrial genetic background plays a role in increasing risk to asthma.
abstract: A number of studies suggest that mitochondrial dysfunction plays a role in the pathogenesis of asthma. To shed light for the first time on the role of the mitochondrial genome in the etiology of asthma we analyzed the mitochondrial tRNA genes and part of their flanking regions in patients with asthma compared with a set of healthy controls. We found a total of 10 mutations in 56 out of 76 asthmatic patients. Four of these mutations were not found in the control group, five were observed at a significantly lower frequency in controls, but none of the combinations of mutations detected in asthma patients was observed in the controls. Furthermore, we observed that 27.6% of the asthma patients (vs. 4% of the controls) belonged to the haplogroup U (Fisher test P = 0.00) and a positive significant correlation was found between the occurrence of the haplogroup U and the severity of the disease (Fisher test P = 0.02). Whereas further studies in larger cohorts are needed to confirm these observations we suggest that the mitochondrial genetic background plays a key role in asthma development.
authors.affiliation: Laboratory of Genetics, Comparative and Evolutionary Biology, Department of Biochemistry and Biotechnology, University of Thessaly, 26 Ploutonos St., 41221, Larissa, Greece.
authors.forename: Emily
authors.initials: E
authors.lastname: Zifa
authors.forename: Zoe
authors.initials: Z
authors.lastname: Daniil
authors.forename: Eleutheria
authors.initials: E
authors.lastname: Skoumi
authors.forename: Maria
authors.initials: M
authors.lastname: Stavrou
authors.forename: Kostantinos
authors.initials: K
authors.lastname: Papadimitriou
authors.forename: Marini
authors.initials: M
authors.lastname: Terzenidou
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Kostikas
authors.forename: Vasileios
authors.initials: V
authors.lastname: Bagiatis
authors.forename: Konstantinos I
authors.initials: KI
authors.lastname: Gourgoulianis
authors.forename: Zissis
authors.initials: Z
authors.lastname: Mamuris
mesh_terms: D000328:Adult; D001249:Asthma / Q000235:genetics*; D001483:Base Sequence; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics; D042967:Electron Transport Complex I / Q000737:chemistry; D005260:Female; D050259:Genes, Mitochondrial / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D009690:Nucleic Acid Conformation; D010802:Phylogeny; D016133:Polymerase Chain Reaction; D017434:Protein Structure, Tertiary; D012335:RNA, Ribosomal / Q000737:chemistry / Q000235:genetics; D012343:RNA, Transfer / Q000235:genetics; D012307:Risk Factors
chemical_list: D004272:DNA, Mitochondrial; D012335:RNA, Ribosomal; D012343:RNA, Transfer; D042967:Electron Transport Complex I; C114961:MT-ND3 protein, human