Epidermolysis Bullosa Simplex Keratinocytes Show Disturbed Mitochondrial Positioning and Activity

The study concluded that keratinocytes from patients with epidermolysis bullosa simplex (EBS) exhibited abnormal mitochondrial positioning and impaired mitochondrial activity compared to normal human keratinocytes (NHKs). EBS keratinocytes had more dispersed mitochondria throughout the cytoplasm, reduced basal and maximum respiration rates, and lower ATP production, despite unchanged mitochondrial membrane potential. The findings suggested that the defective keratin network in EBS cells disrupted cellular energy metabolism and oxidative stress responses, highlighting the critical role of keratins in maintaining mitochondrial dynamics and suggesting potential therapeutic targets for managing EBS.