Exploring the metabolic signature of Amyotrophic Lateral Sclerosis patients-derived cells

Amyotrophic lateral sclerosis (ALS) is a relentlessly fatal neurodegenerative disease characterized by a selective degeneration of upper motor neurons in motor cortex and lower motor neurons in brainstem and spinal cord, leading to rapid paralysis and death1. To date, the pathogenesis is largely unknown and effective therapies still lacking. A massive amount of evidence shows the pivotal role of abnormalities in energy metabolism and mitochondrial dysfunction in ALS, suggesting a strong association between mitochondria metabolism disorder and neurodegeneration2,3. Here, we are elucidating the metabolic profile of patients-derived in vitro models of ALS aiming to obtain a more in-depth understanding of metabolism in health and disease and to provide a platform to unravel the pathological mechanisms underpinning ALS. Defining the role of the impaired metabolism might identify novel therapeutic targets and design innovative treatments for ALS patients.