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Scientific News

FARA funds research progress

In this section, you will find the most recent FA research publications, many of which are funded by FARA, as well as information on upcoming conferences and symposiums. You can search for articles by date using the archive box in the right hand column. To locate FARA Funded or Supported Research, click the hyperlink in the right hand column. You may also search for specific content using key words or phrases in the search button at the top right of your screen. Please be sure to visit other key research sections of our website for information on FARA’s Grant Program and the Treatment Pipeline.



Friedreich Ataxia: Hypoplasia of Spinal Cord and Dorsal Root Ganglia

Early descriptions of Friedreich's Ataxia described depletion of myelinated fibers in the dorsal columns, dorsal spinocerebellar and lateral corticospinal tracts, and neuronal loss in the dorsal nuclei of Clarke columns. Lack of large neurons in dorsal root ganglia (DRG), thinning of dorsal roots (DR), and poor myelination in sensory nerves are now also recognized as key components of FA. Here, we measured cross-sectional areas of the mid-thoracic spinal cord (SC) and neuronal sizes in lumbosacral DRG of 24 genetically confirmed FA cases. Mean thoracic SC areas in FA (24.17 mm2) were significantly smaller than those in 12 normal controls (37.5 mm2); DRG neuron perikarya in FA (1362 µm2) were also significantly smaller than normal (2004 µm2). DRG neuron sizes were not correlated with SC areas. The FA patients included a wide range of disease onset and duration suggesting that the SC undergoes growth arrest early and remains abnormally small throughout life. Immunohistochemistry for phosphorylated neurofilament protein, peripheral myelin protein 22, and myelin proteolipid protein confirmed chaotic transition of axons into the SC in DR entry zones. We conclude that smaller SC areas and lack of large DRG neurons indicate hypoplasia rather than atrophy in FA.

Read more HERE

STEADFAST Background for the Friedreich's Ataxia community

The Friedreich’s Ataxia Research Alliance (FARA) and Horizon Pharma plc would like to share additional background regarding the Phase 3 STEADFAST clinical trial, as well as information about our ongoing collaboration moving forward. We have received many questions among those who participated in the clinical trials, as well as others in the FA community. We want to ensure that you know we have heard your feedback, and that we are working together in the following ways.

Read more HERE

Cytokine therapy-mediated neuroprotection in a Friedreich's ataxia mouse model

The group looked at the neuro-protective effects of the cytokines granulocyte-colony stimulating factor and stem cell factor in a humanized murine model of Friedreich's ataxia. Mice received monthly subcutaneous infusions of cytokines while also being assessed at monthly time points using an extensive range of behavioral motor performance tests. After 6 months of treatment, neurophysiological evaluation of both sensory and motor nerve conduction was performed. Subsequently, mice were sacrificed for mRNA, protein and histological analysis of the dorsal root ganglion, spinal cord and cerebellum. Cytokine administration resulted in significant reversal of biochemical, neuropathological, neurophysiological and behavioral deficits associated with Friedreich's ataxia.

Read more HERE

Deletion of the GAA repeats from the human frataxin gene using the CRISPR-Cas9 system in YG8R-derived cells and mouse models of Friedreich Ataxia

The Friedreich ataxia is a monogenic disease due to a hyper-expanded GAA triplet located within the first intron of the frataxin gene that causes transcriptional issues. The resulting frataxin protein deficiency leads to a Fe-S cluster biosynthesis dysfunction in the mitochondria and to oxidative stress and cell death. Here, we use the CRISPR-Cas9 system to remove the mutated GAA expansion and restore the frataxin gene transcriptional activity and protein level.

Read more HERE

Mitochondrial capacity, muscle endurance & low energy in friedreich ataxia

The group evaluated skeletal muscle mitochondrial capacity, muscle-specific endurance, and energy/fatigue feelings in sixteen people with Friedrich ataxia and compared them to ten controls. Forearm mitochondrial capacity was measured using the rate of recovery of oxygen consumption after electrical stimulation with near-infrared spectroscopy. Mechanomyography (MMG) assessed muscle endurance after electrical stimulation for 3-minutes at 2Hz, 4Hz, and 6Hz. Validated scales assessed disease severity and energy/fatigue feelings. Groups did not differ in mitochondrial capacity.

Read more HERE

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