Abstracts

Missense mutations in the [italic]mRib72-1/Efhc1[/italic] gene have been identified to co-segregate with juvenile myoclonic epilepsy (JME) patients. In addition, functional studies have demonstrated that expression of [italic]mRib72-1/Efhc1[/italic] gene induces apoptosis in neurons in culture. However, the exact relationship between [italic]mRib72-1/Efhc1 [/italic]function and[italic] [/italic]epileptogenesis is still unclear. The objective of this study was to determine the expression pattern of [italic]mRib72-1/Efhc1[/italic] gene in mouse brain in order to investigate its possible role in programmed cell death during development., Balb/c mice were submitted to programmed mating to obtain animals in different developmental stages. The brains of embryos aged 15, 17 and 18 days old and of neonates aged 1, 7, 14 and 28 days old were subsequently removed. We used brain of three animals for each age studied. After RNA extraction, the relative gene expression of [italic]mRib72-1/Efhc1[/italic] was determined by the real-time PCR technique using TaqMan^TM assay. [italic]GAPD[/italic] gene expression was used as an endogenous control., Preliminary results demonstrate that the expression of [italic]mRib72-1/Efhc1[/italic] is higher in embryos than in neonates (p=0.001), with a progressive decrease from embryos aged 18 days to neonates., The highest expression of the [italic]mRib72-1/Efhc1[/italic] gene in embryo brains in comparison to neonates suggests that the putative pro-apoptotic role of this gene may be necessary for the correct organization of the central nervous system during its initial phases of development., (Supported by CAPES - Coordenacao de Aperfeicoamento de Pessoal de Ensino Superior.)