APP Deficiency Ameliorates FAD Presenilin 1 F105C and A246E Mutations-induced Mitochondrial Dysfunction in Human Cortical Neurons - PubMed
2 days ago
- #Alzheimer's disease
- #Mitochondrial dysfunction
- #CRISPR
- Mitochondrial dysfunction is a central feature of Alzheimer's disease (AD) pathology.
- Amyloid precursor protein (APP) accumulation in mitochondria contributes to dysfunction.
- Presenilin-1 (PS1) mutations, common in early-onset familial AD (FAD), impair mitochondrial function.
- Study investigated APP's influence on PS1 mutation-induced mitochondrial dysfunction in human cortical neurons.
- Used patient-derived iPSCs to create PS1 mutant lines and APP knockout derivatives.
- Mitochondrial defects and AD-related phenotypes in PS1 mutant neurons were mitigated by APP knockout.
- Findings highlight APP's role in PS1 mutant-mediated mitochondrial dysfunction in AD.