Investigating the mysteries of Leber’s Hereditary Optic Neuropathy
Dr Isabel Lopez Sanchez has dedicated much of her career to trying to solve the puzzle of a devastating disease that rapidly robs young people of their sight.
Mitochondria are the tiny powerpacks that provide energy to our cells. Leber’s Hereditary Optic Neuropathy (LHON) is a genetic disease that affects the mitochondria of the retinal ganglion cells – specialised cells at the back of the eye.
LHON causes these cells to lose energy and stop working, leading to vision loss. The onset can be dramatic, with some people affected losing their sight in a matter of days.
It’s is an extremely rare disease, affecting only about 60 families in Australia. Although it can affect anyone, vision loss from LHON predominantly occurs in men in their late teens or early 20s.
Mitochondrial research at CERA
Dr Isabel Lopez Sanchez, CERA’s newest Principal Investigator, is devoted to unravelling some of the puzzles of this devastating condition.
By studying the minute cellular and molecular changes that occur in LHON, she hopes to make discoveries that will lead to treatments to prevent or reverse the disease.
“I want to understand the small, detailed steps which occur between what is happening in the genes and the disease,’’ she says.
“Genetic causes of diseases can be similar but manifest in different ways. Why, for example, does one sibling with a mutation will develop the disease, while another will not?
“There is so little we know about LHON and studying it will help us understand more about all mitochondrial diseases, and also potentially much more common eye diseases such as glaucoma.’’
For the past five years, since she completed her PhD at the University of Western Australia, Isabel has been a key member of CERA’s Mitochondria and Neurodegeneration team.
Working closely with Associate Professor Ian Trounce, who is investigating the impacts of changes to mitochondria in glaucoma, her research has continued to gather momentum.
In her new appointment as Principal Investigator Isabel intends to intensify her research efforts.
In November, she returned from a five-month stint as a Wenner-Gren visiting fellow at the Karolinska Institutet in Stockholm, working in the lab of Assistant Professor Joanna Rorbach.
The time in Sweden enabled Isabel to add to her molecular biology skills and she will now steward some international collaborations that emerged from her time there.
She will also continue to forge strong relationships within the community of people affected by mitochondrial diseases.
Bringing new hope for families
Dr Lopez Sanchez says it’s the families affected by mitochondrial diseases that keep her motivated to find treatments and cures.
“My focus is not just in the lab. It is important to keep engaging with people so I don’t forget why I am doing this,’’ she says.
“Finding cures and treatments will be a team effort between scientists, clinicians and patient advocacy.’’
Austin suddenly lost his central vision as a teenager due to Leber’s Hereditary Optic Neuropathy (LHON).
Nevertheless, he remains positive about the future and the potential of new research to help others like him.