Lecture

SOD1 Pathology: Mechanisms and Implications

Description

This lecture delves into the genetic causes of ALS, focusing on SOD1 mutations which account for 2% of cases. It explores the toxic gain of function resulting from over 140 SOD1 mutations, the aberrant redox chemistry, protein misfolding, and aggregation. The discussion extends to the non-cell autonomous nature of the disease, challenging the traditional view of cell autonomy in neurodegenerative disorders. Experimental models, such as in vitro and in vivo studies, shed light on the mechanisms of cellular toxicity induced by mutated SOD1. The lecture also covers the implications of ER stress, mitochondrial dysfunction, and excitotoxicity in ALS pathology, emphasizing the intricate interplay between mutated SOD1 and various cell types in disease progression.

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