New drugs to treat mitochondrial optic neuropathies

Grant holder: Professor Marcela Votruba
Institution: Cardiff University
Grant award: £85,491
Start date: February 2020
End date: February 2022

Why is this research needed?

Mitochondrial optic neuropathies are an important group of disorders that affect at least 1 in 10,000 individuals in the UK. Mitochondrial optic neuropathies are characterised by the malfunction of mitochondria and they lead to life-long, debilitating loss of vision, which can have a severe impact on people’s independence and quality of life.

At present, these disorders are incurable so more investment in research to identify potential treatments remains crucial.

What are mitochondria?

You can think of mitochondria as a cell's power station that produces the energy for it to carry out all its functions properly. They work in a similar way to a digestive system: they take in nutrients and generate energy by breaking them down. This process is called cellular respiration and mitochondria use oxygen to release energy to the cell.

When disease occurs, their ability to perform their digestive function is diminished. In the eye, this can lead to inflammation in the retina.

The two most common mitochondrial optic neuropathies are Leber's Hereditary Optic Neuropathy (LHON), and Autosomal-Dominant Optic Atrophy (ADOA). Both these disorders are caused by genetic mutations, which lead to a harmful change in the mitochondria, resulting in a loss of their normal function.

Retinal ganglion cells (RGCs), which transmit visual information from the eye to the brain via the optic nerve, are particularly susceptible to damage caused by loss of normal mitochondrial function.

What are retinal ganglion cells?

Ganglion cells are a type of neuron (nerve cell) found in the retina. Ganglion cells allow us to see by processing the light that enters the eye and transmitting it to the brain via the optic nerve (to which they are directly connected).

The human retina has more than a million retinal ganglion cells and they are particularly susceptible to damage caused by loss of normal mitochondrial function, which is what happens in mitochondrial optic neuropathies.

What is the aim of the project?

Professor Votruba’s team at Cardiff University is aiming to develop sustained release formulations for new drugs in the treatment of mitochondrial optic neuropathies.

In previous work funded by Sight Research UK, they designed and tested drugs on isolated mitochondria and cultured cells and retinas. Having proved that the drugs could restore mitochondrial energy in cells, resulting in the rescue of cell death, the team now want to develop their drug into a useable medicine.

In this project, they will take four promising compounds that they have already identified, to develop an effective new therapy and drug delivery system.

How will this research help to beat sight loss faster?

The expected outcome of this work is the identification of an effective sustained release drug and minimally invasive drug delivery system, which it is hoped could be used eventually in clinical trials in patients with LHON or ADOA.

Further information

You can find more about the causes and symptoms of Leber's Hereditary Optic Neuropathy (LHON) here.

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