Scientists of the University of Coimbra develop a faster method for the genetic diagnosis of rare disorder that may cause blindness
"GenEye24" is able to identify the three most common pathogenic variants in Leber's Hereditary Optic Neuropathies (LHON) in just 24 hours with high accuracy and precision.
English version: Diana Taborda
A research team of the University of Coimbra (UC), has developed a fast, low cost and efficient method for the genetic diagnosis of Leber's Hereditary Optic Neuropathy (LHON), a rare inherited disorder that may lead to blindness.
This method may contribute to streamline clinical and therapeutic intervention in this disorder, which affects mostly young adult males (ratio 4-5 to 1 female), and is associated with depletion of energy production in retinal ganglion cells, crucial for vision.
A prompt diagnosis of this hereditary disease "may allow a more accurate and timely start of the treatment, so that the patient has an increased benefit and the chance to recover eye function and vision, whenever possible", explains Manuela Grazina, Professor at the Faculty of Medicine of the University of Coimbra (FMUC), coordinator of the Mitochondrial Biomedicine and Theranostics Laboratory (LBioMiT) of the UC Centre for Neuroscience and Cell Biology (CNC-UC), and coordinator of the study. Grazina adds that “speed is paramount for the differential diagnosis of the disease and for pursuing the diagnostic investigation with greater accuracy”.
"GenEye24" is a new method that "allows the identification of the three most frequent pathogenic variants - Top3 (95% of the total of identified genetic alterations) in Leber's Hereditary Optic Neuropathy, within a period of 24 hours, with great sensitivity and specificity", explains Manuela Grazina, adding that "With the technologies normally used, the genetic diagnosis may take up to a month”.
© Ricardo Almeida
With this scientific study, the University of Coimbra team proposes "a new economic, simple, robust and fast methodological approach, using real-time PCR (polymerase chain reaction), for high-specific identification of alterations in the mitochondrial genome", explains the UC researcher. "This test is done through the amplification of the patient's genetic material, extracted from the blood, with complementary "probes" and "primers" of the sequence where the deleterious mutations can be found", adds Manuela Grazina.
After showing the positive impacts that GenEye24 may have in the early diagnosis of Leber's Hereditary Optic Neuropathy, the research team hopes that "it may be used in large scale screening of patients, due to the speed in getting an accurate diagnosis, with great clinical value. GenEye24 is already available at LBioMiT, and some patients have already been screened, among which two were carriers of one of the Top3 mutations", concludes the researcher.
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 at https://doi.org/10.1016/j.mito.2023.01.006.