3. Amyotrophic Lateral Sclerosis

Cells and animal models carrying ALS pathogenic mutations in superoxide dismutase 1 (SOD1) and FUS1 have shown significant alterations in MAM regulation in motor neurons. We are clarifying what aspects of MAM regulation are potentially affected in ALS and their influence on the early mitochondrial deficits seen in this disease. For that, using biochemical, molecular and imaging approaches, we are examining MAM dysregulation and its consequences in vivo using cultured motor neurons differentiated from human pluripotent stem cells derived from ALS patients and controls.