P002: Exploring the role of cardiolipin metabolism in the brain through the lens of Barth syndrome and cardiolipin synthase deficiency*

Cardiolipin (CL) is a glycerophospholipid found exclusively in the inner mitochondrial membrane consisting of a double glycerophosphate backbone and 4 acyl side chains; the profile of these side chains is largely tissue-specific. CL is involved in critical functions in the mitochondria, including organization of the respiratory chain, initiation of apoptosis, activation of mitophagy, and maintenance of bioenergetic homeostasis. Two major disorders of CL metabolism include Barth Syndrome (BTHS MIM 302060), an X-linked disorder caused by pathogenic variants in the gene TAFAZZIN resulting in abnormal CL remodeling and Combined Oxidative Phosphorylation Deficiency 57 (COXPD57 MIM 620167), an autosomal recessive disorder of defective nascent CL synthesis caused by pathogenic variants in CL Synthase, (CRLS1).