RESUMEN
BACKGROUND: The role for the methylenetetrahydrofolate reductase C677T gene variants in the risk of ischemic stroke is controversial. METHOD: This first case-control study including 91 cases affected by ischemic stroke and 182 controls matched for age, sex, and same area was conducted in Casablanca, Morocco. Allele and genotype frequency were characterized by using PCR followed by HinfI enzymatic digestion. RESULTS: We found no statistic association of T allele carriers genetic factors with stroke; odds ratio, 1.1; 95% confidence interval (CI), 0.59-2.04, P = 0.303. The results shown significant association of T allele carriers genetic factors with atherothrombotic subtype stroke (n = 42); odds ratio, 2.1; 95% CI: 1.17-3.8; P = 0.012, and adjusted odds ratio of 6.5; 95% CI: 1.86-23.1, P = 0.003, for TT genotype variant compared with CC wild genotype. CONCLUSION: We suggested that MTHFR C677T variant may be a determinant of atherothrombotic event of ischemic stroke in Morocco.
Asunto(s)
Predisposición Genética a la Enfermedad/genética , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Polimorfismo de Nucleótido Simple/genética , Accidente Cerebrovascular/genética , Adulto , Factores de Edad , Anciano , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Factores de Riesgo , Factores Sexuales , Accidente Cerebrovascular/clasificaciónRESUMEN
Spinal muscular atrophy (SMA) is an autosomal recessive disorder with a highly variable clinical course and prognosis. We report on the cases of three siblings with SMA. The weakness muscular observes at three siblings but more earlier and severe to the index case with a fast evolution towards respiratory distress syndrome resulting in its death at 5 years. The homozygous deletions of exons 7 and 8 of the telomeric SMN gene were found in all three siblings. No child showed deletion of NAIP gene. Muscular weakness and respiratory distress severity however were different among the siblings. The index patient died at the age of 5 because of respiratory insufficiency. Several molecular mechanisms may be involved in such phenotypic variability. The PCR-RFLP method allows to confirm clinical diagnosis of SMA in children, while avoiding more invasive methods such as EMG and muscular biopsy. However, this diagnostic tool does not allow yet the distinction between different clinical forms of SMA.