A research team from the University of Coimbra (UC) has developed a quick, economical and efficient methodology for the genetic diagnosis of Leber's Hereditary Optic Neuropathy (LHON), a rare disease that can lead to blindness. This method may contribute to speed up clinical and therapeutic intervention in this pathology, which mainly affects youn
g male adults (ratio 4-5 to 1 female) and which is associated with a deficit in the production of energy in retinal ganglion cells, which are essential for vision.
The prompt diagnosis of this hereditary disease «can create the opportunity to start the treatment with greater precision and speed, in order to allow the patient to have greater benefit and opportunity to recover his vision, if that is the case», explains the professor at the Faculty of Medicine at the University of Coimbra (FMUC), coordinator of the Mitochondrial and Theranostic Biomedicine Laboratory (LBioMiT) at the UC Center for Neurosciences and Cellular Biology (CNC-UC) and coordinator of the scientific study, Manuela Grazina. «Speed is fundamental for the differential diagnosis of the disease and to continue the diagnostic investigation with greater precision», underlines the UC professor.
Called “GenEye24”, this new methodology «allows the identification of the three most frequent pathogenic variants – Top3 (95% of the total genetic alterations identified) in Leber's Hereditary Optic Neuropathy, within a period of 24 hours, with great sensitivity and specificity», explains Manuela Grazina. «With the technologies commonly used, the genetic diagnosis can take more than a month», contextualizes the research coordinator.
With this scientific study, the team from the University of Coimbra proposes «a new economic, simple, robust and fast methodological approach, using PCR (polymerase chain reaction) in real time, for the identification with high specificity of alterations in the mitochondrial genome» , clarifies the UC researcher. «This test is carried out by amplification of the patient's genetic material, extracted from the blood, with “probes” and “detectors” (primers) complementary to the sequence where the deleterious genetic alterations can be found», adds Manuela Grazina.
After revealing the positive impacts that it can have on the early diagnosis of Leber's Hereditary Optic Neuropathy, the research team hopes that «the "GenEye24" can be used on a large scale in the screening of patients, due to the speed of obtaining a response of precision, with great clinical utility and is already available on LBioMiT, with some patients having already been screened, among which two were carriers of one of the Top3 mutations», concludes the researcher.
The scientific study also included the participation of Sara Martins (Center for Neurosciences and Cell Biology at the University of Coimbra), Maria João Santos (Center for Neurosciences and Cell Biology at the University of Coimbra and Faculty of Medicine at the University of Coimbra), Márcia Teixeira (Neurosciences and Cell Biology Center of the University of Coimbra), Luísa Diogo (Faculty of Medicine of the University of Coimbra, Center for Innovation in Biomedicine and Biotechnology and Reference Center for Hereditary Diseases of Metabolism at the Hospital and University Center of Coimbra), Maria do Carmo Macário (Faculty of Medicine at the University of Coimbra, Center for Innovation in Biomedicine and Biotechnology and Reference Center for Hereditary Diseases of Metabolism at the Hospital and University Center of Coimbra), João Pedro Marques (Faculty of Medicine at the University of Coimbra and Centro Hospital and University of Coimbra) and Pedro Fonseca (Faculty of Medicine at the University University of Coimbra and Hospital and University Center of Coimbra).
It should be noted that the Laboratory of Mitochondrial and Theranostic Biomedicine of the Center for Neurosciences and Cell Biology of the UC is an affiliated center of the Reference Center for Hereditary Diseases of Metabolism of the Centro Hospitalar e Universitário de Coimbra since 2021.
The scientific article “GenEye24: Novel Rapid Screening Test for the Top-3 Leber’s Hereditary Optic Neuropathy Pathogenic Sequence Variants” is published in the journal Mitochondrion, and available here.
Catarina Ribeiro [UC]