IMPE Abstracts

The term “mitochondrial disease” (MD) encompasses well over 300 monogenic disorders. MD genes encode either components of the oxidative phosphorylation (OXPHOS) system or cause a secondary impact on OXPHOS. MD can be caused by pathogenic variants in any of the 37 mitochondrial DNA (mtDNA) genes, which explain up to 70% of adult-onset MD. In paediatric-onset MD, the modes of inheritance appear to be ~30% mtDNA, ~50% autosomal recessive with the remainder X-linked or...