Gene therapy of optic nerve atrophy
Scientists have developed a new gene therapy for the treatment of eye diseases
Anna Yudina, "Scientific Russia"
Scientists from Trinity College in Dublin have developed a new approach to gene therapy that promises to one day cure an eye disease that leads to progressive vision loss and affects thousands of people around the world, Scientists develop new gene therapy for eye disease writes in a press release.
Article by Maloney et al. Optimized OPA1 Isoforms 1 and 7 Provide Therapeutic Benefit in Models of Mitochondrial Dysfunction published in the journal Frontiers in Neuroscience – VM.
The study, which involved clinical teams from the Royal Victoria Eye and Ear Hospital in Dublin, also has implications for a much broader set of neurological disorders associated with aging.
Characterized by degeneration of the optic nerves, dominant optic nerve atrophy usually begins to cause symptoms in patients in early adulthood. These include moderate vision loss and some color vision defects, but the severity varies, symptoms may worsen over time, and some people may go blind. There is currently no way to prevent or cure atrophy.
The OPA1 gene provides instructions for the production of the dynamin-like 120 kDa protein, which is found in cells and tissues throughout the body and is crucial for maintaining the proper functioning of mitochondria, which are energy producers in cells.
Without the protein produced by OPA1, mitochondrial function is suboptimal, and the mitochondrial network, which is well interconnected in healthy cells, is severely disrupted.
A healthy cell (above) shows a very complex and well-connected network of yellow-stained mitochondria. In a cell without the OPA1 gene (below), mitochondria are fragmented – VM.
For people living with dominant optic nerve atrophy, it is mutations in OPA1 and dysfunctional mitochondria that are responsible for the onset and progression of the disease.
New gene therapy
Scientists led by Dr. Daniel Maloney and Professor Jane Farrar from the Trinity School of Genetics and Microbiology have developed a new gene therapy that successfully protected the visual function of mice who were treated with a chemical targeted at mitochondria, and who, as a result, lived with mitochondrial dysfunction.
The scientists also found that their gene therapy improved the functioning of mitochondria in human cells containing mutations in the OPA1 gene, which gives hope that it can be effective in humans.
Dr Maloney, a research associate, said: "We used a clever laboratory technique that allows scientists to inject a specific gene into cells that need it, using specially created safe viruses. This allowed us to directly change the functioning of mitochondria in the cells we treated, increasing their ability to produce energy, which, in turn, helps protect them from cell damage. Interestingly, our results demonstrate that this OPA1-based gene therapy could potentially benefit diseases such as dominant optic nerve atrophy, which arise from OPA1 mutations, as well as possibly a wider range of diseases associated with mitochondrial dysfunction."
It is important to note that mitochondrial dysfunction causes problems in a number of other neurological disorders, such as Alzheimer's and Parkinson's disease. The impact gradually increases over time, so many may associate such disorders with aging.
Professor Farrar, a research professor, added: "We are very excited about the prospect of this new gene therapy strategy, although it is important to stress that there is still a long way to go in terms of research and development before this therapeutic approach can one day become available as a treatment. OPA1 mutations are involved in dominant optic nerve atrophy, and therefore this OPA1-based therapeutic approach is relevant to the disease. However, mitochondrial dysfunction is implicated in many neurological disorders that collectively affect millions of people worldwide. We believe that this type of therapeutic strategy has great potential to influence society."
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