Genetic mutations in the mitochondria (part of the cell that produces energy) cause the disorder. Currently, there is no cure for LHON. However, Guy and his team have successfully modified a virus and used it to introduce healthy genes into the mitochondria to correct the genetic defect.
Using experimental models, they have proven that it is both safe and effective to replace mutated genes with healthy ones and that doing so prevents deterioration of the retinal cells that form the optic nerve. This research demonstrates that when efficiently introduced into mitochondria, normal DNA can correct a biochemical defect in cellular energy production and restore visual function.
"A wide range of other factors, including aging, cancer, and Parkinson's disease, are also caused by mutations in the mitochondria," said Dr. Guy. "This new approach shows the vast potential for genetic-therapy applications, while helping to address a significant cause of blindness."
The healthy genes were delivered into the mitochondria via an innovative viral delivery system. Specifically, Guy redirected the adeno-associated virus (a small virus that infects humans but is not known to cause disease) to the mitochondria rather than to its typical target, the nucleus, where most genes are housed within the cell. He did so via a mitochondrial-targeting sequence (a peptide chain that directs the transport of a protein). This permitted the replacement of the defective mitochondrial gene with a healthy one, which then restored energy production to the affected ocular cells. Two National Institutes of Health/National Eye Institute grants, totaling $6.1 million funded this research, which began in 2007.
"Other research studies have shown that LHON patients who have lost their vision still have some sensitivity to light," said Guy. "This indicated that if you can restore the functioning of those cells through gene therapy, those patients could see again." In conjunction with his research, Guy explored why only about 50 percent of patients with the genetic mutation develop LHON, while others do not.
Known for exploring gene therapy as a potential treatment for diseases of the optic nerve, Guy holds several patents related to mitochondrial gene therapy biotechnology. His next steps will be to investigate incorporating all three genes that cause LHON into a single viral carrier and hopefully receive FDA approval to inject therapeutic genes into patients who have visual loss from mitochondrial disease.
On April 20, 2012, Proceedings of the National Academy of Sciences of the United States of America (PNAS) - one of the world's most-cited multidisciplinary scientific serials - published an article by Guy about this recent breakthrough. Click here to read the article.
About Bascom Palmer Eye Institute
Bascom Palmer Eye Institute of the University of Miami Miller School of Medicine – part of UHealth – University of Miami Health System, has been ranked #1 in ophthalmology the nation for the past eight consecutive years, as published in U.S. News & World Report. Having earned an international reputation as one of the premier providers of eye care in the world, Bascom Palmer has been ranked #1 in patient care and residency training by Ophthalmology Times. As the largest ophthalmic care, vision research, and educational facility in the southeastern United States, Bascom Palmer treats more than 250,000 patients and nearly every ophthalmic condition each year. Additionally, more than 12,000 surgeries are performed annually. Founded in 1962, Bascom Palmer has patient care facilities in Miami, Palm Beach Gardens, Naples, and Plantation, Florida. For more information, contact the firstname.lastname@example.org, Bascom Palmer's marketing and communications department at (305) 326-6190, or visit bascompalmer.org.
Ann Carney | EurekAlert!
Investigators may unlock mystery of how staph cells dodge the body's immune system
22.09.2017 | Cedars-Sinai Medical Center
Monitoring the heart's mitochondria to predict cardiac arrest?
21.09.2017 | Boston Children's Hospital
Plants and algae use the enzyme Rubisco to fix carbon dioxide, removing it from the atmosphere and converting it into biomass. Algae have figured out a way to increase the efficiency of carbon fixation. They gather most of their Rubisco into a ball-shaped microcompartment called the pyrenoid, which they flood with a high local concentration of carbon dioxide. A team of scientists at Princeton University, the Carnegie Institution for Science, Stanford University and the Max Plank Institute of Biochemistry have unravelled the mysteries of how the pyrenoid is assembled. These insights can help to engineer crops that remove more carbon dioxide from the atmosphere while producing more food.
A warming planet
Our brains house extremely complex neuronal circuits, whose detailed structures are still largely unknown. This is especially true for the so-called cerebral cortex of mammals, where among other things vision, thoughts or spatial orientation are being computed. Here the rules by which nerve cells are connected to each other are only partly understood. A team of scientists around Moritz Helmstaedter at the Frankfiurt Max Planck Institute for Brain Research and Helene Schmidt (Humboldt University in Berlin) have now discovered a surprisingly precise nerve cell connectivity pattern in the part of the cerebral cortex that is responsible for orienting the individual animal or human in space.
The researchers report online in Nature (Schmidt et al., 2017. Axonal synapse sorting in medial entorhinal cortex, DOI: 10.1038/nature24005) that synapses in...
Whispering gallery mode (WGM) resonators are used to make tiny micro-lasers, sensors, switches, routers and other devices. These tiny structures rely on a...
Using ultrafast flashes of laser and x-ray radiation, scientists at the Max Planck Institute of Quantum Optics (Garching, Germany) took snapshots of the briefest electron motion inside a solid material to date. The electron motion lasted only 750 billionths of the billionth of a second before it fainted, setting a new record of human capability to capture ultrafast processes inside solids!
When x-rays shine onto solid materials or large molecules, an electron is pushed away from its original place near the nucleus of the atom, leaving a hole...
For the first time, physicists have successfully imaged spiral magnetic ordering in a multiferroic material. These materials are considered highly promising candidates for future data storage media. The researchers were able to prove their findings using unique quantum sensors that were developed at Basel University and that can analyze electromagnetic fields on the nanometer scale. The results – obtained by scientists from the University of Basel’s Department of Physics, the Swiss Nanoscience Institute, the University of Montpellier and several laboratories from University Paris-Saclay – were recently published in the journal Nature.
Multiferroics are materials that simultaneously react to electric and magnetic fields. These two properties are rarely found together, and their combined...
19.09.2017 | Event News
12.09.2017 | Event News
06.09.2017 | Event News
22.09.2017 | Life Sciences
22.09.2017 | Medical Engineering
22.09.2017 | Physics and Astronomy