World Mitochondrial Disease Week 2023: How can understanding mitochondria, the powerhouses of the cells, advance our understanding of eye conditions?
It’s World Mitochondrial Disease Week (18-24 September), but how much do you know about mitochondria? Understanding more about these remarkable ‘organelles’, which power so many of the cells in our body, could be key to unlocking treatment for eye diseases. Read on to find out what they do and the work we’re funding to unearth their secrets.
What are mitochondria?
Mitochondria are the tiny powerhouses inside our cells, and changes in the number or function of these compartments are linked with the ageing process.
How can studying mitochondria help us understand eye diseases?
As mitochondria play a significant role in the ageing process, they’re also implicated in developing certain age-related diseases, including eye diseases that are prevalent as we age. We’re funding researchers and research to explore the role of mitochondria in specific eye diseases.
Understanding the role of mitochondria in glaucoma
Through the RCOphth / Fight for Sight Zakarian Award, we’re funding Dr Samad Ansari from King’s College, London, to explore mitochondria's role in glaucoma. Dr Ansari and the team will explore genetic and environmental factors influencing the relationships between mitochondrial function and ageing characteristics, including eye function.
Specifically, the team will recruit 120 pairs of twins (60 identical and 60 non-identical) and perform a series of tests – including mitochondrial function.
Mitochondria as a powerhouse for the cells
Understanding mitochondria is vital in developing treatments for the rare condition leber hereditary optic nerve neuropathy or LHON.
The condition most commonly affects young men and causes a sudden, painless loss of central vision in both eyes. Faults in the mitochondria's genetic code are the underlying cause of leber hereditary optic nerve neuropathy.
Faults in four different genes have so far been linked with LHON; these faults interfere with the ability of the mitochondria to generate sufficient energy.
We’re funding Professor Marcela Votruba to investigate a potential therapeutic treatment for leber hereditary optic nerve neuropathy. It could pave the way for developing new therapies for people with LHON.
What role do mitochondria play in leber hereditary optic nerve neuropathy?
Professor Votruba said: "LHON is due to a change in the genetic code carried by mitochondria, and this spelling mistake leads to impaired mitochondrial function, which in turn leads to retinal ganglion cell loss and the onset of significant visual impairment or blindness. We need to understand more about the way that this mitochondrial problem triggers disease.”
She added, “Mitochondria are far more than just the so-called batteries of the cell making energy in the form of ATP. They have other important functions and are implicated in the disease mechanism in a range of neurodegenerative conditions. They are fascinating because we have started to unravel some of the ways that they can be implicated in disease and ageing.”
Helping to power research
Speaking about the potential of her research, Professor Votruba said: “Currently, we are focused on understanding the trigger for visual loss in LHON and how it might be possible to recover some vision, both spontaneously, which is extremely rare, or with new therapies. Fight for Sight is supporting us with its generous funding of a research scientist to study retinal ganglion cells and mitochondrial function in the laboratory dish and in models of LHON.”
Understanding damage in diabetic retinopathy
In 2016, we awarded funding to Dr Jose Romero del Hombrebueno at Queen’s University Belfast to explore the role mitochondria might play in developing diabetic retinopathy.
High blood sugar from diabetes is the main trigger for damage to the retina. The Early Career Investigator award to Dr Romero del Hombrebueno enabled him to explore ‘why’. It’s vital work because we don’t yet know exactly how the damage occurs.
It’s possible studying mitochondria holds some of the answers. The retina requires lots of energy from mitochondria (the powerhouses in the cells). In diabetes, they stop working properly and build up in the retina. This puts people with diabetes at severe risk of sight loss, first because the retina can’t produce all the energy it needs and because the broken mitochondria are a source of toxic waste.
Changing the batteries: a therapeutic approach
In healthy retinas, damaged mitochondria are removed and replaced with newly-made ones (like changing a battery). But there’s some evidence that this system of turnover doesn’t work properly in diabetes. The team’s project aimed to find out more about how diabetes affects the turnover of mitochondria in the retina and whether treatment to get the process working again can slow or stop sight loss. The team has uncovered novel therapeutic targets based on the normalization of mitochondrial turnover for the early treatment of diabetic retinopathy. It is possible that drugs already approved for use could be through a rapid translational pipeline.
It is clear mitochondria deserve a week of recognition, as does the fantastic work dedicated to understanding them and harnessing that to save sight and change lives.
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