Assuntos
Proteínas da Matriz Extracelular/metabolismo , Glicoproteínas/metabolismo , Escoliose/diagnóstico , Escoliose/metabolismo , Adolescente , Biomarcadores/metabolismo , Proteína de Matriz Oligomérica de Cartilagem , Feminino , Regulação da Expressão Gênica , Humanos , Proteínas Matrilinas , Modelos Biológicos , Modelos Teóricos , Mutação , Osteoblastos/metabolismo , Fenótipo , RNA Mensageiro/metabolismo , Reação em Cadeia da Polimerase Via Transcriptase ReversaRESUMO
We used a microarray approach to evaluate gene expression profiles in human AIS osteoblasts, and to identify genes that are differentially expressed following estrogen exposure in non-AIS and AIS human osteoblasts. We found that more than one gene is likely responsible for AIS. Furthermore, some of these genes are estrogen-regulated, suggesting a possible role of estrogens in the etiology of scoliosis.
Assuntos
Predisposição Genética para Doença , Escoliose/genética , Adolescente , Perfilação da Expressão Gênica , Pesquisa em Genética , Humanos , Escoliose/etiologiaRESUMO
The sarcoglycanopathies are a group of autosomal recessive limb girdle muscular dystrophies (AR-LGMD 2) characterised by mutations in gene encoding one of the sarcoglycan subunits. Mutations in SGCA, SGCB, SGCG and SGCD genes are associated with LGMD 2D, 2E, 2C and 2F, respectively. We report three Tunisian patients belonging to the same consanguineous family sharing similar LGMD 2 phenotype but heterogeneous sarcoglycans immunohistochemical patterns. Linkage analysis suggests linkage with the LGMD 2D locus for the two siblings and with LGMD 2C locus for the third patient. Mutation analysis revealed two distinct mutations. A del521T homozygous mutation in exon 6 of the SGCG gene (LGMD 2C), widely distributed in Tunisian patients, was found in one patient, whereas a 157G>A homozygous mutation in exon 2 of the SGCA gene (LGMD 2D) was found in the two siblings. The presence of two distinct genetic forms, LGMD 2C and LGMD 2D in a consanguineous family raises the problem of the complexity of genetic counselling in inbred populations.