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Updated: Jun 22, 2025

Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction
Published on: July 12, 2022
Nanophotonic waveguide-based sensing of circulating cell-free mitochondrial DNA: implications for personalized
Prasan Kaur1, Nazim Nazeer1, Vikas Gurjar1
1Division of Environmental Biotechnology, Genetics & Molecular Biology, ICMR-National Institute for Research in Environmental Health (NIREH), Bhopal, India.
Abstract:
Circulating cell-free mitochondrial DNA (ccf-mtDNA) has emerged as a promising biomarker, with potential implications for disease diagnosis. Changes in mtDNA, such as deletions, mutations or variations in the number of copies, have been associated with mitochondrial disorders, heart diseases, cancer and age-related non-communicable diseases. Previous methods, such as polymerase chain reaction-based approaches, next-generation sequencing and imaging-based techniques, have shown improved accuracy in identifying rare mtDNA variants or mutations, but they have limitations. This article explains the basic principles and benefits of using planar optical waveguide-based detection devices, which represent an advanced approach in the field of sensing.

