RESUMEN
Osteogenesis imperfecta (OI) comprises a heterogeneous group of disorders characterized by bone fragility, frequent fractures, and low bone mass. Dominantly inherited COL1A1 or COL1A2 mutations appear to be causative in the majority of OI types, but rare recessively inherited genes have also been reported. Recently, SERPINF1 has been reported as another causative gene in OI type VI. To date, only eight SERPINF1 mutations have been reported and all are homozygous. Our patient showed no abnormalities at birth, frequent fractures, osteopenia, and poor response on pamidronate therapy. At the time of her most recent evaluation, she was 8 yr old, and could not walk independently due to frequent lower-extremity fractures, resulting in severe deformity. No clinical signs were seen of hearing impairment, blue sclera, or dentinogenesis imperfecta. In this study, we describe the clinical and radiological findings of one Korean patient with novel compound heterozygous mutations (c.77dupC and c.421dupC) of SERPINF1.
Asunto(s)
Niño , Femenino , Humanos , Densidad Ósea/genética , Colágeno Tipo I/genética , Proteínas del Ojo/genética , Fracturas Óseas/genética , Factores de Crecimiento Nervioso/genética , Osteogénesis Imperfecta/diagnóstico , Serpinas/genéticaRESUMEN
OBJETIVO: O presente trabalho objetiva compreender a possível relação do nível de expressão gênica do mRNA da proteína S100β em adipócitos com o diabetes melito do tipo 2, pela comparação de dados de portadores dessa doença com os de indivíduos normoglicêmicos. MATERIAIS E MÉTODOS: Foram selecionadas amostras de tecido adiposo de oito pacientes da Seção de Coronárias do Instituto Dante Pazzanese de Cardiologia (IDPC), sendo quatro do grupo diabetes e quatro do grupo de normoglicêmicos. Essas amostras foram submetidas à técnica de RT-PCR em tempo real. RESULTADOS: Por meio do Test-t de Student para os valores de diferença entre os ciclos threshold (ΔCt), observou-se que houve aumento de aproximadamente 15 vezes (p = 0,015) da expressão do mRNA da proteína S100β nos adipócitos dos indivíduos do grupo diabetes quando comparado aos do grupo controle. CONCLUSÃO: Nossos resultados evidenciam, de forma inédita, coexistência entre o aumento da expressão do gene S100β e a patologia do diabetes melito do tipo 2.
OBJECTIVE: This study aims to explore the possible relationship between the expression level of S100β protein mRNA with diabetes mellitus type 2 in adipocytes from patients with this disease in comparison with normoglycemic individuals. MATERIALS AND METHODS: Samples of adipose tissue of eight patients from the coronary section of the Institute Dante Pazzanese of Cardiology (IDPC), four in Group Diabetes and four of Normoglycemic group, were evaluated by RT-PCR real time. RESULTS: An increase around 15 times values, between the threshold cycle (ΔCt), of mRNA expression of S100β protein in adipocytes of the diabetes group was observed in comparison to the control group (p = 0.015). CONCLUSION: Our results indicate, for the first time, that there is coexistence of increased expression of the S100β and the type 2 diabetes mellitus gene.
Asunto(s)
Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adipocitos/metabolismo , /metabolismo , Factores de Crecimiento Nervioso/metabolismo , ARN Mensajero/metabolismo , /metabolismo , Estudios de Casos y Controles , Factores de Crecimiento Nervioso/genética , Reacción en Cadena en Tiempo Real de la Polimerasa , /genéticaRESUMEN
Glaucomas comprise a group of hereditary optic neuropathies characterized by progressive and irreversible visual field loss and damage to the optic nerve head. It is a complex disease with multiple molecular mechanisms underlying its pathogenesis. Genetic heterogeneity is the hallmark of all glaucomas and multiple chromosomal loci have been linked to the disease, but only a few genes have been characterized, viz. myocilin (MYOC), optineurin (OPTN), WDR36 and neurotrophin-4 (NTF4) in primary open angle glaucoma (POAG) and CYP1B1 and LTBP2 in congenital and developmental glaucomas. Case-control-based association studies on candidate genes involved in different stages of glaucoma pathophysiology have indicated a very limited involvement. The complex mechanisms leading to glaucoma pathogenesis indicate that it could be attributed to multiple genes with varying magnitudes of effect. In this review, we provide an appraisal of the various efforts in unraveling the molecular mystery in glaucoma and also some future directions based on the available scientific knowledge and technological developments.
Asunto(s)
Hidrocarburo de Aril Hidroxilasas/genética , Autoanticuerpos/inmunología , Muerte Celular , Mapeo Cromosómico , Proteínas del Sistema Complemento/inmunología , Sistema Enzimático del Citocromo P-450/genética , Proteínas del Citoesqueleto/genética , Epistasis Genética , Proteínas del Ojo/genética , Expresión Génica , Heterogeneidad Genética , Genoma Humano , Glaucoma/genética , Glaucoma/inmunología , Glaucoma/fisiopatología , Glaucoma de Ángulo Abierto/genética , Glicoproteínas/genética , Humanos , Factores de Crecimiento Nervioso/genética , Hipertensión Ocular/etiología , Células Ganglionares de la Retina , Factores de Riesgo , Factor de Transcripción TFIIIA/genéticaRESUMEN
OBJECTIVE@#To evaluate the changes of GDNF after severe brain injury.@*METHODS@#Changes GDNF in cortex, thalamus and pontine was observed by using immunohistochemistry and image analysis technique.@*RESULTS@#The lever of GDNF was increasing at 1 d, reaching peak at 3 d, not obviously decreasing at 5 d and still higher than normal at 7 d after severe brain injury.@*CONCLUSION@#As an objective indication, the time sequence regularity of GDNF after brain injury may be applied in brain injury time estimation.