Researcher Wins $250,000 FARA Grant to Study Proprioception Loss

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by Margarida Maia PhD |

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A researcher in Australia has received $250,000 from the Friedreich’s Ataxia Research Alliance (FARA) to use stem cells to understand the mechanisms behind the progressive loss of proprioception — the perception of the body’s position and movement — in people with Friedreich’s ataxia (FA).

The two-year grant was awarded to Mirella Dottori, PhD, an associate professor at the University of Wollongong (UWA) and a principal research fellow at UWA’s Molecular Horizons and at the Illawarra Health and Medical Research Institute.

“My current project funded by FARA will use stem cells derived from [Friedreich’s ataxia] patients to study the progressive neurodegeneration of proprioceptor sensory neurons, which are responsible for body position and movement,” Dottori said in a university press release.

One of the earliest symptoms of FA is a loss of proprioception, which occurs as cells of the sensory nervous system — a part of the body’s nervous system responsible for processing sensory information — stop working or die.

To understand how these proprioceptor nerve cells begin to deteriorate, Dottori and her team will use stem cells derived from FA patients and turn them into proprioceptor sensory neurons in the lab. The lab-made cells will be used as a model to understand what makes them go awry in FA, and when.

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“There are many things that we don’t know about neurodegenerative disorders,” Dottori said. “We’ve been lucky to discover that the cause of [Friedreich’s Ataxia] is due to mutations in the FXN gene, resulting in insufficient levels of the mitochondrial protein, frataxin, in the body.”

Within cells, frataxin is found in mitochondria, which produce energy. There is some evidence that low levels of frataxin — a hallmark of FA, due to mutations in its coding gene FRX — may provide a mechanism through which proprioception is lost.

The studies in stem cells will provide a first step in determining when and how proprioception loss begins, and whether it can be stopped or reversed by increasing the levels of frataxin.

The findings may lead to new possibilities for treatments for FA, a progressive disorder for which there currently is no cure and no approved disease-modifying therapies.

Dottori has previously received funding to advance the development of a gene therapy for FA that involves the use of a virus to deliver frataxin directly to sensory nerve cells and cells in the heart, which also are greatly impacted by a deficiency in the frataxin protein. That research is ongoing.