The proapoptotic BCL-2 family member BIM mediates motoneuron loss in a model of amyotrophic lateral sclerosis.

摘要

Amyotrophic lateral sclerosis (ALS) is a progressive adult-onset motoneuron disease characterized by muscle weakness, atrophy, paralysis and premature death. The pathological hallmark of ALS is the selective degeneration of motoneurons in the spinal ventral horn, most brainstem nuclei and cerebral cortex. The majority of ALS patients lack a defined hereditary genetic component and are considered sporadic, whereas approximately 10% of cases are familial (FALS). Over 100 mutations in the gene encoding superoxide dismutase-1 (SOD1), which trigger the misfolding and abnormal aggregation of SOD1, have been genetically linked with FALS.