P011: Elamipretide—the first approved treatment for Barth syndrome: Genetic basis, mechanistic rationale, and phase 4 confirmatory trial
Abstract
Barth syndrome (BTHS) is an ultra-rare, X-linked mitochondrial disorder caused by pathogenic variants in TAFAZZIN (G4.5), which encodes for TAFAZZIN, an acyltransferase that remodels the mitochondrial phospholipid cardiolipin (CL), a key determinant of inner mitochondrial membrane structure and function. TAFAZZIN loss reduces mature tetralinoleoyl-cardiolipin (L4CL) and increases monolysocardiolipin (MLCL), producing a high MLCL:CL ratio. Resultant mitochondrial dysfunction causes cardiomyopathy, in most BTHS cases, and varying degrees of skeletal muscle myopathy, neutropenia, growth delay, and fatigue.
Fields of Study & Subjects
Mitochondrial Function and Pathology
Metabolism and Genetic Disorders
Cardiomyopathy and Myosin Studies
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103502–103502
- Publication date
- 1 January 2026
- Language
- EN