A new gene therapy against eye diseases

Consisting of the introduction of genetic material to “correct” a patient’s cells, gene therapy has for several years offered promising results against serious and incurable diseases such as certain cancers and neurodegenerative diseases.

A new study published in the journal Frontiers in black science and conducted by scientists from Trinity College 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 the treatment of dominant optic atrophy (ODD). More generally, 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 can also worsen over time and lead to total blindness in some patients. There is currently no way to prevent or cure AOD.

Its appearance is due to mutations in the OPA1 gene, essential for the proper functioning of mitochondria, which are the producers of energy 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, which can lead to the initiation and then progression of optic atrophy. dominant.

This new gene therapy has been successfully tested in mice treated with a chemical that targets mitochondria and then cohabit with dysfunctional mitochondria. It also improved the performance of mitochondria in human cells that contained mutations in the OPA1 gene, which gives hope that it may 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, giving hope that it could be effective in humans.

“Our results fascinatingly demonstrate that this OPA1-based gene therapy has the potential to provide benefits for diseases such as APS, which are due to OPA1 mutations, and perhaps even a wider range. Diseases involving mitochondrial dysfunction. “says Dr. Daniel Maloney, lead author of the study. This includes other neurodegenerative diseases such as 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. Although, she shades, “There is still a long way to go from an R&D perspective before this therapeutic approach may one day be available as a treatment.”.