Researchers at Trinity College Dublin have just developed a new gene therapy approach that offers hope of one day curing dominant optic atrophy, an eye disease that causes progressive loss of vision.
- By restoring the functioning of the OPA1 gene, gene therapy has improved the performance of mitochondria, responsible for the appearance of dominant ocular atrophy.
- This technique could also lead to treatments for other disorders linked to cellular aging, such as neurodegenerative diseases.
Consisting of introducing genetic material to “correct” a patient’s cells, gene therapy has offered promising results for several years against serious and incurable diseases such as certain cancers and neurodegenerative diseases.
A new study published in the journal Frontiers in Neroscience and conducted by scientists from Trinity College in Dubin, in collaboration with clinical teams from the Royal Victoria Eye and Ear Hospital and Mater Hospital, showed that gene therapy could also lead to a treatment for dominant optic atrophy (DOA) . More broadly, it could also have implications for a much wider range of neurological disorders associated with aging.
Degeneration of mitochondria
Characterized by degeneration of the optic nerves, dominant optic atrophy usually begins to cause symptoms in patients in early adulthood: moderate vision loss and some color vision defects, although their severity varies. Symptoms may also worsen over time and lead to total blindness in some patients. There is currently no way to prevent or cure DOA.
Its occurrence is due to mutations in the OPA1 gene, essential for the proper functioning of mitochondria, which are the energy producers in cells. Without the protein made by OPA1, mitochondrial function is suboptimal and the mitochondrial network, which is well interconnected in healthy cells, is severely disrupted, which can lead to the onset and subsequent progression of optic atrophy dominant.
This new gene therapy has been successfully tested in mice treated with a mitochondria-targeting chemical and therefore living with dysfunctional mitochondria. It also improved the performance of mitochondria in human cells that contained mutations in the OPA1 gene, raising hopes that it might be effective in humans.
A potentially effective therapy against Alzheimer’s and Parkinson’s
The scientists also found that their gene therapy improved the performance of mitochondria in human cells that contained mutations in the OPA1 gene, raising hopes that it could be effective in humans.
“Our results provide exciting evidence that this OPA1-based gene therapy may potentially provide benefits for diseases like DOA, which are due to mutations in OPA1, and perhaps also for a wider range diseases involving mitochondrial dysfunction”, says Dr. Daniel Maloney, lead author of the study. This includes other neurodegenerative diseases like Parkinson’s and Alzheimer’s, which are linked to aging and progressive mitochondrial dysfunction.
“We are very excited about this new gene therapy strategy”, explains Professor Jane Farrar, co-author of the work. Even if, she nuances, “there is a long way to go from a research and development perspective before this therapeutic approach can ever be available as a treatment”.
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