Whole mitochondrial genome sequencing in individuals with Leber hereditary optic neuropathy negative for the common pathogenic mitochondrial DNA variants
Our study of a well-characterized Indian LHON cohort uncovered rare mtDNA variants that should be considered when assessing undiagnosed optic neuropathy cases. Additionally, it underscores the effectiveness of NGS in identifying heteroplasmic mtDNA variants. This indicates that whole mitochondrial genome sequencing via NGS is a more efficient and preferred approach for routine molecular genetic testing.
Authors
- Patrick Yu‐Wai‐Man (ORCID: https://orcid.org/0000-0001-7847-9320)
- Nagarajan Hemavathy
- D. Vidhya
- Srilekha Sundaramurthy (ORCID: https://orcid.org/0000-0003-2904-6048)
- Ambika Selvakumar
Institutions
- Moorfields Eye Hospital NHS Foundation Trust (GB)
- University of Cambridge (GB)
- Cambridge University Hospitals NHS Foundation Trust (GB)
- Madras Diabetes Research Foundation (IN)
- India Diabetes Research Foundation (IN)
- Moorfields Eye Hospital (GB)
- Medical Research Foundation (GB)
- University College London (GB)
- MRC Mitochondrial Biology Unit (GB)
Publication Details
- Journal
- Frontiers in Neurology
- Published
- 2025-09-01
- DOI
- https://doi.org/10.3389/fneur.2025.1584748
- Citations
- 1
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- ARVO Foundation for Eye Research
- LifeArc
- National Institute for Health and Care Research
- Sight Research UK
- Rosetrees Trust
- Indian Council of Medical Research
- Isaac Newton Trust
- Moorfields Eye Hospital NHS Foundation Trust
- Moorfields Eye Charity
- NIHR Cambridge Biomedical Research Centre