Mitochondrial DNA Maintenance Disorders: Impact of Impaired Deoxynucleoside Triphosphates Metabolism

The maintenance of mitochondrial DNA (mtDNA) is dependent upon several nuclear gene-encoded proteins including enzymes forming the replisome needed to synthesise mtDNA. These need be present in balanced quantities function properly. In addition, mtDNA synthesis requires a supply nucleotides that achieved by nucleoside recycling inside mitochondria, and nucleotide import from cytosol. Mitochondrial defects are group diseases caused pathogenic variants genes involved maintenance, result impaired replication. Pathogenic gene identified date include encode replication machinery (such as POLG), help maintain pool TK2), fusion. Here, presentation provided Ramon Martí, Research Group on Neuromuscular Diseases, Vall d’Hebron Institut de Recerca, Barcelona, Spain, CIBERER, Madrid, summarised. A leading expert pathology, Martí presented at Euromit 2023 International Conference Disease, which took place Bologna, Italy, May 2023.