CRLS1 mutations cause an autosomal recessive multi-system mitochondrial disease (from cardiolipin deficiency)
A new study published in Human Molecular Genetics identified bi-allelic variants in the gene coding for the cardiolipin biosynthesis, within 4 individuals (including two siblings) affected by a progressive mitochondrial encephalopathy, with multi-systemic involvement. Various analyses (patient-derived fibroblasts, lipid profiling in fibroblasts, proteomic profiling of patient cells, mouse knockout) explain this autosomal recessive disease, and revealed key signatures in cardiolipin and proteome profiles across various degrees of cardiolipin loss, facilitating the use of omics technologies to guide future diagnosis of mitochondrial diseases.