First adult stem cells from Friedreich's Ataxia patients give hope for new treatment

Researchers at the Monash Institute of Medical Research (MIMR) and the University of Melbourne have for the first time created adult induced pluripotent stem cells from patients with the rare genetic disorder, Friedreich's Ataxia.

It is expected these stem cells will lend deeper insight into the disease and its progression, and open up the possibility of a stem cell-based treatment.

Friedreich's ataxia is an autosomal recessive genetic disorder, meaning sufferers have two copies of the abnormal FXN gene, which results in reduced synthesis of the FXN mRNA and its corresponding protein, frataxin.

The disease is characterised by neurodegeneration, leading to speech and gait problems, and deterioration of heart function. It affects around 30,000 people globally.

The researchers, co-led by Paul Verma from the MIMR and Alice Pébay and Mirella Dottori from the University of Melbourne, produced the stem cells from skin fibroblasts.

Read more about Paul Verma's research into induced pluripotent stem cells.

The resulting stem cells possessed the characteristic genetic traits associated with Friedreich's ataxia, and can be induced to give rise to two cell types that are affected by the disease, peripheral neurons and cardiomyocytes.

Producing stem cells such as this can give tremendous insight into the progression of a disease as they represent ideal models and can be used to develop high-throughput drug screening assays.

The stem cells could also be part of a treatment for the disease. The researchers demonstrated that functional versions of the genes involved in Friedreich's ataxia can be inserted into the stem cells, resulting in proper expression of the frataxin protein in neurons differentiated from the cells.

This raises the possibility of a therapeutic treatment involving patient-derived induced pluripotent stem cells with the genetic abnormality corrected which can be the source of cells for transplantation.

The research could also aid in the treatment of other diseases, said Verma.

“Due to the number of symptoms experienced by people with FA, including diabetes and heart disease, this resource could be applied to developing treatment for those conditions and helping even more people," he said.

The study was published in the journal Stem Cell Reviews and Reports.