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Mol Biol Rep ; 39(4): 4697-708, 2012 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21947849

RESUMO

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.


Assuntos
Asma/genética , Predisposição Genética para Doença , Mitocôndrias/genética , Adulto , Sequência de Bases , Estudos de Casos e Controles , Análise Mutacional de DNA , DNA Mitocondrial/química , DNA Mitocondrial/genética , Complexo I de Transporte de Elétrons/química , Feminino , Genes Mitocondriais/genética , Haplótipos/genética , Humanos , Masculino , Dados de Sequência Molecular , Mutação/genética , Conformação de Ácido Nucleico , Filogenia , Reação em Cadeia da Polimerase , Estrutura Terciária de Proteína , RNA Ribossômico/química , RNA Ribossômico/genética , RNA de Transferência/genética , Fatores de Risco
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