Improving post-natal detection of mitochondrial DNA mutations
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Updated: Dec 9, 2025
Methodology for Accurate Detection of Mitochondrial DNA Methylation
Published on: May 20, 2018
Giulia Barcia1, Zahra Assouline1, Maryse Magen1
1Université de Paris et Service de Génétique Moléculaire, Reference Center for Mitochondrial Diseases (CARAMMEL), Groupe Hospitalier Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris , Paris, France.
Introduction:
Currently, genetic testing of mitochondrial DNA mutations includes screening for single-nucleotide variants, several base pair insertions or deletions, large-scale deletions, or relative depletion of total mitochondrial DNA content. Within the last decade, next-generation sequencing (NGS) has resulted in remarkable advances in the field of mitochondrial diseases (MD) and has become a routine step of the diagnostic workup.
Areas Covered:
We aimed to present an overview of current technologies employed in molecular diagnosis of mitochondrial DNA diseases. We report on the recent contributions of NGS testing to the diagnosis and understanding of MD.
Expert Opinion:
The progress of NGS technologies allows the simultaneous detection of mutations and quantification of the heteroplasmy level, ensuring sensitivity and specificity requested for the detection of mitochondrial DNA point mutations. NGS protocols enabling the simultaneous analysis of mitochondrial and nuclear DNA are now efficient and cost-saving approaches, and have become the gold-standard technique in diagnostic laboratories.
