Genomics landscape of mitochondrial DNA variations in patients from South Italy affected by mitochondriopathies

Mitochondrial DNA (mtDNA) is a 16,569 base pairs, double-stranded, circular molecule that contains 37 genes coding for 13 subunits of the respiratory chain plus 2 rRNAs and 22 tRNAs. Mutations in these genes have been identified in patients with a variety of disorders affecting every system in the body. The advent of next generation sequencing technologies has provided the possibility to perform the whole mitochondrial DNA sequencing, allowing the identification of disease-causing pathogenic variants in a single platform.

Source: Journal of the Neurological Sciences - January 6, 2024 Category: Neurology Authors: Luigi Citrigno, Antonio Qualtieri, Annamaria Cerantonio, Selene De Benedittis, Olivier Gallo, Gemma Di Palma, Patrizia Spadafora, Francesca Cavalcanti Source Type: research