Disturbed mitochondrial maturation in cardiolipin remodeling-deficient cardiomyocytes - PubMed
5 hours ago
- #Cardiomyopathy
- #Barth syndrome
- #Mitochondrial dysfunction
- Barth syndrome is a rare X-linked genetic disorder causing early-onset cardiomyopathy.
- TAFAZZIN gene encodes a transacylase essential for cardiolipin remodeling in the inner mitochondrial membrane.
- TAFAZZIN deficiency leads to disturbed cardiolipin metabolism and mitochondrial dysfunction.
- Human induced pluripotent stem cell-derived cardiomyocytes were used to model Barth syndrome.
- Maturation of cardiomyocytes involves cristae dynamics and alterations in mitochondrial membrane proteins and lipids.
- TAFAZZIN-deficient cardiomyocytes fail to adapt to developmental stimuli, resulting in damaged cristae and compromised respiration.
- The study links TAFAZZIN deficiency to mitochondrial dysfunction and progression of cardiomyopathy in Barth syndrome.