Inherited deficiency in the mitochondrial protein frataxin causes the rare disease Friedreich's ataxia (FA), for which there is no successful treatment. We identified a redox deficiency in FA cells and used this to model the disease. We screened a 1600-compound library to identify existing drugs which could be of therapeutic benefit. We identified the topical anesthetic dyclonine as protective. Dyclonine increased FXN transcript and frataxin protein dose-dependently in FA cells and brains of animal models.
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.
Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's Ataxia
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- Category: Funded Research
Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia
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- Category: Scientific News
An inherited deficiency of the mitochondrial protein frataxin causes Friedreich's ataxia (FRDA); the mechanism by which this deficiency triggers neuro- and cardio-degeneration is unclear. Microarrays of neural tissue of animal models of the disease showed decreases in antioxidant genes, and increases in inflammatory genes.
Post-Doctoral Fellowship available for research on Friedreich's Ataxia
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- Category: Scientific News
Funding Opportunity:
Pre-application due by Sept 15, 2014
Post-Doctoral Fellowship available for research on Friedreich's Ataxia
Mesenchymal Stem Cells Improve Motor Functions and Decrease Neurodegeneration in Ataxic Mice
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- Category: Funded Research
The main objective of this work is to demonstrate the feasibility of using bone marrow-derived stem cells in treating a neurodegenerative disorder such as Friedreich's ataxia. In this disease, the dorsal root ganglia of the spinal cord are the first to degenerate.
Read More: Mesenchymal Stem Cells Improve Motor Functions and Decrease Neurodegeneration in Ataxic Mice
Human Frataxin Activates Fe-S Cluster Biosynthesis by Facilitating Sulfur Transfer Chemistry
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Iron-sulfur clusters are ubiquitous protein cofactors with critical cellular functions. The mitochondrial Fe-S assembly complex, which consists of the cysteine desulfurase NFS1 and its accessory protein (ISD11), the Fe-S assembly protein (ISCU2), and frataxin (FXN), converts substrates l-cysteine, ferrous iron, and electrons into Fe-S clusters.
Read More: Human Frataxin Activates Fe-S Cluster Biosynthesis by Facilitating Sulfur Transfer Chemistry
- Therapeutic approaches for the treatment of Friedreich's ataxia
- Sensitivity of Spatiotemporal Gait Parameters in Measuring Disease Severity in Friedreich Ataxia
- Functional Characterization of Friedreich Ataxia iPS-Derived Neuronal Progenitors and Their Integration in the Adult Brain
- The role of frataxin in fission yeast iron metabolism: Implications for Friedreich's ataxia
- MutLα Heterodimers Modify the Molecular Phenotype of Friedreich Ataxia