PRJNA527002
Understanding mitochondrial DNA maintenance disorders at the single cell level
The study aimed to improve current understanding of the underlying pathomechanisms of disease in patients with adult-onset mtDNA maintenance disorders by investigating relationships, at a single cell level, between the causative nuclear mutations and the ensuing multiple mtDNA deletions and OXPHOS deficiency profiles. NGS was used to characterise the multiple mtDNA deletions in these patients.