GenEye24: Novel rapid screening test for the top-3 Leber’s Hereditary Optic Neuropathy pathogenic sequence variants

Mitochondrion. 2023 Jan 28;69:64-70. doi: 10.1016/j.mito.2023.01.006. Online ahead of print.


Leber’s Hereditary Optic Neuropathy (LHON) has been mainly (90-95 %) associated to one of three variants: m.3460G>A, m.11778G>A, m.14484T>C. Herein, a screening method was developed for its detection, supporting clinical/therapeutics decision. It relies on real-time PCR with High-Resolution Melting (HRM) analysis. Variant classification is made using HRM Software and quality controls. A total of 101 samples were analyzed. All samples were correctly assigned: 58 wild-type, 35 positive for m.11778G>A, 6 positive for m.14484T>C, 2 positive for m.3460G>A. Results presented sensitivity = 1, specificity = 1, Positive Predictive Value = 1 and Negative Predictive Value = 1. A new Real-Time PCR/HRM screening method cost-efficient, simple, robust and quick, detecting LHON’s top-3 is described.

PMID:36716943 | DOI:10.1016/j.mito.2023.01.006