RESUMEN
BACKGROUND: This study investigated genetic polymorphisms affecting the inducible nitric oxide synthase, superoxide dismutase and catalase enzymes in chronic otitis media patients with and without tympanosclerosis, and the role of genetic susceptibility in the disease aetiology. METHODS: A total of 162 patients who underwent surgery for chronic otitis media were divided into two study groups: a tympanosclerosis group and a chronic otitis media group. A third, the control, group comprised 188 healthy volunteers. Venous blood samples were evaluated using reverse transcriptase polymerase chain reaction. RESULTS: There was a significant difference in GG genotype distribution of the -277A>G polymorphism in the NOS2 gene between the tympanosclerosis and control groups (p T) polymorphism in the SOD2 gene (p > 0.05). There were significant differences in the TT genotype distribution of the -21A>T polymorphism in the CAT gene between the tympanosclerosis and control groups, and between the chronic otitis media and control groups (p < 0.05). CONCLUSION: These results suggest that genetic predisposition may play a role in the aetiopathogenesis of tympanosclerosis.
Asunto(s)
Catalasa/genética , Miringoesclerosis/enzimología , Óxido Nítrico Sintasa de Tipo II/genética , Otitis Media/enzimología , Polimorfismo Genético , Superóxido Dismutasa/genética , Adulto , Antioxidantes/metabolismo , Estudios de Casos y Controles , Catalasa/sangre , Femenino , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Masculino , Miringoesclerosis/sangre , Óxido Nítrico Sintasa de Tipo II/sangre , Otitis Media/sangre , Superóxido Dismutasa/sangreRESUMEN
Rheumatoid arthritis (RA) is a major cause of adult chronic inflammatory arthritis and an autoimmune disease of unknown etiology in which the inflammatory pathology involves T cell activation. Genetic mutations in the Mediterranean fever (MEFV) gene, encoding pyrin, influence the severity of RA, but the underlying mechanisms are not completely understood. In this study, we investigated whether the full-length MEFV gene (MEFV-fl) and the exon 2-deleted splice isoform (MEFV-d2) expression are associated with or responsible for the clinical conditions of RA. This study include 47 patients with RA and 47 age- and gender-matched healthy controls. Quantitative real-time polymerase chain reaction analysis was performed to examine transcriptional changes in MEFV gene expression from peripheral blood samples. Reverse transcription-polymerase chain reaction of peripheral blood cells revealed the downregulation of MEFV-fl mRNA in non-treated patients compared with healthy controls and treated patients. MEFV-d2 expression was not different between groups. This is the first study to investigate the expression of MEFV transcript in RA. Deregulation of the MEFV gene is likely to result in uncontrolled inflammation as observed in RA. Therefore, downregulation of MEFV-fl may be involved in the pathogenesis of early-stage RA and treatment and may ameliorate MEFV-fl expression.
Asunto(s)
Artritis Reumatoide/genética , Proteínas del Citoesqueleto/genética , Regulación de la Expresión Génica/genética , Predisposición Genética a la Enfermedad , Adulto , Anciano , Artritis Reumatoide/patología , Proteínas del Citoesqueleto/biosíntesis , Exones , Femenino , Estudios de Asociación Genética , Genotipo , Heterocigoto , Humanos , Masculino , Persona de Mediana Edad , Mutación , Isoformas de Proteínas/biosíntesis , Isoformas de Proteínas/genética , Pirina , ARN Mensajero/biosíntesis , ARN Mensajero/genética , Factores de RiesgoRESUMEN
Male infertility is a common barrier that prevents successful conception. There have been reports of azoospermia in men with familial Mediterranean fever, some of whom had not been treated with colchicine. Variation in this disorder could be a risk factor for amyloidosis associated with azoospermia. We determined the frequency of 6 of the most common Mediterranean fever gene mutations, M680I, M694V, M694I, V726A, P369S, and A744S, in 74 infertile men, 155 men diagnosed with familial Mediterranean fever and 55 healthy fertile men in eastern Turkey. All three groups were screened for the 6 mutations using an amplification refractory mutation system and restriction fragment length polymorphism methods. Allelic frequencies were 2.7% for M694V and 1.35% for V726A in the infertile patient group and 1.8% for M694V and 1.8% for V726A in healthy subjects. Other mutations were not detected in patients or controls. The mutation frequency was not found to be significantly higher in infertile patients when compared with healthy fertile male controls. To our knowledge, this is the first study to determine the frequency of Mediterranean fever gene mutations in infertile male and the infertility rate of male patients with familial Mediterranean fever.