iPSCs AS A MODEL TO STUDY AMYOTROPHIC LATERAL SCLEROSIS (ALS): FROM CELL DIFFERENTIATION TO THE CHARACTERIZATION OF NEURONS GENERATED FROM BRAZILIAN ALS PATIENTS iPSCs

Amyotrophic lateral sclerosis (ALS) is the most common motor neuron neurodegenerative disease. It is characterized by progressive muscle weakness and atrophy, and death usually occurs about 2 to 3 years after the onset. About 10% of ALS cases are considered familial (fALS). In Brazil, the genetic profile of patients with fALS is of special interest, since the most common mutation, in the VAPB gene, is almost absernt in the rest fo the world. The P56S mutation in VAPB gene, is related to an autosomal dominant form of the disease, called ALS8. In this context, our group recently generated iPSCs lines from ALS Brazilian patients with different genotypes: a familial patient carrying the PS56 mutation in VAPB gene, a sporadic patient with; and a familial patient with mutations in two other genes associated with ALS, SOD1 and FUS, in addition to control individuals. iPSCs can be then differentiated in different cell types, as neurons, maintaining the patient`s genetic background, making possible to study the genetic and pathophysiological bases of the disease in vitro.