Viruses Treatment Articles

Stem Cell Pilot Study Tackles Devastating Genetic Paraplegia

September 29, 2017

BRISBANE'S National Centre for Adult Stem Cell Research will commence a pilot study into a devastating genetic disease in which active young people progressively develop paraplegia.

The little-known disease, Hereditary Spastic Paraplegia, has about 1000 diagnosed sufferers in Australia, but the mutations responsible may lurk in the genes of an unknown percentage of the population.

The study will use adult stem cells from people with Hereditary Spastic Paraplegia to test new treatments to restore nerve function damaged by the disease.

The $100,000 funding for the study presented to the Centre today (26 Sept) was raised by people with the disease through the HSP Research Foundation. The participants will donate their cells to create a 'bank' of adult stem cells for the study.

The project is led by Centre Director Professor Alan Mackay-Sim and Centre Group Leader, neurologist Associate Professor Carolyn Sue of Sydney's Kolling Institute of Medical Research.

"We beliebe this will be the world's first collection of stem cells from people with this disease," Professor Mackay Sim said.

"The pilot project will take biopsies from at least 10 people with HSP, all of whom have mutations in the SP4 gene. This mutation is present in about 40% of sufferers."

The team will grow and differentiate these into nerve cells then assess the function of the SP4 gene compared to cells from a control group of healthy volunteers.

"We will then use the screening facilities at Griffith University's Eskitis Institute to test candidate drugs to correct the cellular functions caused by the mutation. We hope to generate pilot data to take to other funding agencies."

President of HSP Research Foundation Robin Bligh said the rarity of the disease meant little research had been conducted worldwide.

"Some of the genes responsible have been identified to enable genetic testing but there is no cure on the horizon," he said.

"The Foundation has been unsuccessful in securing government and philanthropic grants because the disease is seen as rare.

"But the prevalence could be much higher as it is often misdiagnosed as anything from MS to severe arthritis.

He said while most cases result from a single parent with a dominant defective gene, it is also possible for two people who unknowingly carry a recessive defective gene to pass the disease to their children, although they themselves exhibit no symptoms.

Its existence may not be revealed until the sufferer is aged between 20 and 40 and begins to experience muscle weakness causing difficulty walking.

The early onset means a young person with the disease faces the prospect of spending up to 80 years of their life incapacitated by the disease.

By: Leanne Towerzey

National Centre for Stem Cell Research
Griffith University