Targeting the FNIP2-SERCA2b axis improves metabolic and mitochondrial defects in Ataxia Telangiectasia - PubMed
5 hours ago
- #Mitochondrial Respiration
- #Metabolic Defects
- #Ataxia Telangiectasia
- Ataxia telangiectasia (AT) is a rare multisystem disorder caused by loss of functional ATM protein, leading to various severe symptoms.
- The study identifies widespread glycogen accumulation in AT cells and tissues due to dysregulated glucose metabolism and impaired mitochondrial respiration.
- Inactivation of FNIP2, which controls mitochondrial respiration, partially rescues metabolic defects in AT cellular models.
- FNIP2 interacts with the SERCA2b calcium channel, and its inactivation enhances cytoplasmic calcium availability, stimulating mitochondrial respiration and glucose consumption.
- Targeting the FNIP2-SERCA2b axis presents a novel potential therapeutic approach for mitigating systemic effects of AT.