Cell reprogramming to model epilepsy.(P12)

MARIANA CASALÍA; MARIA ISABEL FARIAS; VERONICA CAVALIERE CANDEDO; JUAN CRUZ CASABONA

Huerta Grande. Córdoba

Congreso; Congreso Anual de la Sociedad Argentina de Neurociencias; 2014

Sociedad Argentina de Neurociencias

Epilepsy is the third most common neurological disorder, affecting patients of all ages. It is estimated that 1% of the global population will develop epilepsy at some point in their lives. The available therapies act on the symptoms and not the causes Lack of models to study this disease is a major obstacle to understand this illness. The Benign Focal Childhood Epilepsies (BFCEs) represent the most prevalent syndromes in the pediatric population. Unpublished results relate mutations in the FGD6 gene with BFCEs. We sought to model BFCEs by cellular reprogramming of skin fibroblasts of patients carrying an FGD6 mutation that could be the cause of the epileptic phenotype. We include in the study 2 patients carrying a mutation on the FGD6 gene in homocigosis, 2 related, asymptomatic controls carrying a mutation on the FGD6 gene in heterocigosis and 1 non-related control. At least 3 clones of induced pluripotent stem cells (iPS) from each participant were characterized by 9 quality control assays including pluripotent identity by ICQ and PCR, differentiation capability by ICQ and RT-PCR, karyotyping. iPS were derived into neuroepithelial (NE) tissue. Preliminary results show a reduced axon development and a significantly lower number of neurons in NE samples carrying the FGD6 mutation in homocigosis compared with the controls. These results suggest that samples from BFCEs patients carrying an homocygous mutation in FGD6have deficits in neuronal maturation and/or differentiation