PT  - JOURNAL ARTICLE
AU  - Foteini Malli
AU  - Emily Zifa
AU  - Konstantinos Gourgoulianis
AU  - Zissis Mamuris
AU  - Zoe Daniil
TI  - Detection of specific mitochondrial RNA gene mutations in asthma patients: Contribution of haplogroup U
DP  - 2011 Sep 01
TA  - European Respiratory Journal
PG  - 1735
VI  - 38
IP  - Suppl 55
4099  - http://erj.ersjournals.com/content/38/Suppl_55/1735.short
4100  - http://erj.ersjournals.com/content/38/Suppl_55/1735.full
SO  - Eur Respir J2011 Sep 01; 38
AB  - Background: Maternal history of asthma is among the most consistently reported risk factors for asthma in children. Furthermore, a number of studies suggest that mitochondrial dysfunction plays a role in the pathogenesis of asthma. Until now, it was never investigated whether an implication of mitochondrial tRNA gene mutations exists in the genetics of bronchial asthma.Methods: To shed more light 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 26 unrelated patients with asthma and we compared the findings with a set of 60 healthy controls.Results: We found a total of 10 mutations in 19 out of 26 asthmatic patients. Four of the mutations (595insC in tRNAPhe, A8343G in tRNALys, T10448C in tRNAArg and G709A in 12S rRNA) were not found in the control group. Five mutations were observed in controls but in a significantly lower rate: 3.3%, vs. 27% (A12308G in tRNALeu(CUN)), 5% vs. 7.7% (G15928A in tRNAThr), 10% vs. 57.7% (A750G in 12S rRNA), 1.67% vs. 3.87% (T3197C in 16S rRNA and A15954C in MT-NC10). In the control group we did not observe any of the 9 combinations of mutations detected in asthma patients. We observed that 27% of the asthma patients (vs. 3% of the controls) belonged to the haplogroup U (characterized by the presence of A12308G and T7028C mutations), for which several studies already reported an association with atopic phenotypes.Conclusions: Mitochondrial tRNA and rRNA mutations are more frequent in asthma patients than controls. However, it is certain that further studies in larger cohorts are needed to confirm these observations.