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FARA Funded Research

Your generous support has funded all the research listed below.


For more information on FARA-funded research & scientists, please visit FARA Supported Research, Active Clinical Trials and the Featured Scientist.

Stable isotopes and LC-MS for monitoring metabolic disturbances in Friedreich's ataxia platelets

An LC-MS-based method was used to determine whether platelets isolated from patients with FRDA exhibit differentiable metabolism compared with healthy controls. Isotopologue analysis showed a marked decrease in glucose incorporation with a concomitant increase in palmitate-derived acyl-CoA thioesters in FRDA platelets compared with controls. These findings demonstrate that platelets can be used as a surrogate tissue for in vivo biomarker studies to monitor new therapeutic approaches for the treatment of FRDA.

Read more: Stable isotopes and LC-MS for monitoring metabolic disturbances in Friedreich's ataxia platelets

Phenotypic Screening for Friedreich Ataxia Using Random shRNA Selection

A random, short-hairpin-RNA (shRNA)-expressing library was screened in primary FRDA fibroblasts and identified two shRNAs that reverse the growth/viability defect in an in vitro model of FA. One of these two clones increases frataxin expression in primary FRDA fibroblasts, either as a vector-expressed shRNA or as a transfected short-interfering RNA (siRNA).

Read More: Phenotypic Screening for Friedreich Ataxia Using Random shRNA Selection

Targeting lipid peroxidation and mitochondrial imbalance in Friedreich's ataxia

Pharmacol Res. 2015 Jul 2. pii: S1043-6618(15)00113-9. doi: 10.1016/j.phrs.2015.05.015. [Epub ahead of print] Abeti R, Uzun E, Renganathan I, Honda T, Pook MA, Giunti P
 

Fibroblasts from two FRDA mouse models, YG8R and KIKO, were used to analyse two different categories of protective compounds: deuterised poly-unsaturated fatty acids (dPUFAs) and Nrf2-inducers. The former have been shown to protect the cell from damage induced by lipid peroxidation and the latter trigger the well-known Nrf2 antioxidant pathway. Our results show that the sensitivity to oxidative stress of YG8R and KIKO mouse fibroblasts, resulting in cell death and lipid peroxidation, can be prevented by d4-PUFA and Nrf2-inducers (SFN and TBE-31).

Read More:  Targeting lipid peroxidation and mitochondrial imbalance in Friedreich's ataxia

 

 

Src inhibitors modulate frataxin protein levels

Defective expression of frataxin is responsible for the inherited, progressive degenerative disease Friedreich's Ataxia (FRDA). There is currently no effective approved treatment for FRDA and patients die prematurely. Defective frataxin expression causes critical metabolic changes, including redox imbalance and ATP deficiency. As these alterations are known to regulate the tyrosine kinase Src, we investigated whether Src might in turn affect frataxin expression. We found that frataxin can be phosphorylated by Src.

 

Read More: Src inhibitors modulate frataxin protein levels.

 

Delivery of human frataxin genomic DNA locus creates different frataxin isoforms

Friedreich's ataxia (FRDA) is the most common form of hereditary ataxia caused by recessive mutations in the FXN gene. Recent results have indicated the presence of different frataxin isoforms due to alternative gene expression mechanisms. Our previous studies demonstrated the advantages of using high-capacity herpes simplex virus type 1 (HSV-1) amplicon vectors containing the entire FXN genomic locus (iBAC-FXN) as a gene-delivery vehicle capable of ensuring physiologically-regulated and long-term persistence.

Read More: Delivery of the 135kb human frataxin genomic DNA locus gives rise to different frataxin isoforms.

 

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