Nell Richardson

Faecal mtDNA heteroplasmy as a non-invasive biomarker in m.3243 A > G mitochondrial disease

Quantifying mitochondrial DNA (mtDNA) heteroplasmy is critical for diagnosis, prognosis, and monitoring of mitochondrial disease, particularly that caused by the m.3243 A > G pathogenic variant, where tissue-specific heteroplasmy contributes to disease expression. However, current methods often rely on invasive o...