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Review Open access Sep 2026

Rethinking rare: mitochondrial disease as a model for health system innovation and reform

Rare diseases affect over 400 million people worldwide and present a major opportunity for health system reform. Primary mitochondrial disease comprises progressive, genetically heterogeneous disorders caused by pathogenic variants in mitochondrial or nuclear DNA, with an estimated prevalence of 1 in 4300 and likely un...

Amanda Temby, R. Stefanetti, Lyndsey Butterworth et al. · 0 citations
Open access Aug 2026

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...

Charlotte Warren, R. Stefanetti, Isabel Barrow et al. · 0 citations

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