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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.

Urinary isoprostanes in Friedreich ataxia: lack of correlation with disease features

To assess the utility of urinary isoprostanes as markers of oxidative injury in Friedreich ataxia (FA), we compared levels of urinary F(2)-isoprostanes in patients with FA and healthy control subjects. Levels of urinary F(2)-isoprostanes in FA patients were not different from controls and were not significantly associated with age, GAA repeat length, disability level, or the use of antioxidants. Thus, urinary F(2)-isoprostanes are not a useful biomarker in FA.

(c) 2008 Movement Disorder Society.

The MCK mouse heart model of Friedreich's ataxia

Alterations in iron-regulated proteins and cardiac hypertrophy are limited by iron chelation

There is no effective treatment for the cardiomyopathy of the most common autosomal recessive ataxia, Friedreich's ataxia (FA). The identification of potentially toxic mitochondrial (MIT) iron (Fe) deposits in FA suggests that Fe plays a role in its pathogenesis. This study used the muscle creatine kinase conditional frataxin (Fxn) knockout (mutant) mouse model that reproduces the classical traits associated with cardiomyopathy in FA. We examined the mechanisms responsible for the increased cardiac MIT Fe loading in mutants. Moreover, we explored the effect of Fe chelation on the pathogenesis of the cardiomyopathy. Our investigation showed that increased MIT Fe in the myocardium of mutants was due to marked transferrin Fe uptake, which was the result of enhanced transferrin receptor 1 expression.

Read More: The MCK mouse heart model of Friedreich's ataxia

Drosophila Frataxin: An Iron Chaperone during Cellular Fe–S Cluster Bioassembly

Frataxin, a mitochondrial protein that is directly involved in regulating cellular iron homeostasis, has been suggested to serve as an iron chaperone during cellular Fe–S cluster biosynthesis. In humans, decreased amounts or impaired function of frataxin causes the autosomal recessive neurodegenerative disorder Friedreich’s ataxia. Cellular production of Fe–S clusters is accomplished by the Fe cofactor assembly platform enzymes Isu (eukaryotes) and IscU (prokaryotes). In this report, we have characterized the overall stability and iron binding properties of the Drosophila frataxin homologue (Dfh). Dfh is highly folded with secondary structural elements consistent with the structurally characterized frataxin orthologs.

Read More: Drosophila Frataxin: An Iron Chaperone during Cellular Fe–S Cluster Bioassembly

Influence of Friedreich Ataxia GAA Noncoding Repeat Expansions on Pre-mRNA Processing

The intronic GAA repeat expansion in the frataxin (FXN) gene causes the hereditary neurodegenerative disorder Friedreich ataxia. Although it is generally believed that GAA repeats block transcription elongation, direct proof in eukaryotic systems is lacking. We tested in hybrid minigenes the effect of GAA and TTC repeats on nascent transcription and pre-mRNA processing. Unexpectedly, disease-causing GAA100 repeats did not affect transcriptional elongation in a nuclear HeLa Run On assay, nor did they affect pre-mRNA transcript abundance. However, they did result in a complex defect in pre-mRNA processing. The insertion of GAA but not TTC repeats downstream of reporter exons resulted in their partial or complete exclusion from the mature mRNAs and in the generation of a variety of aberrant splicing products.

Read More: Influence of Friedreich Ataxia GAA Noncoding Repeat Expansions on Pre-mRNA Processing

Recombinant human erythropoietin increases frataxin protein expression without increasing mRNA expression

Friedreich's ataxia is an autosomal recessive neurodegenerative disease that is due to the loss of function of the frataxin protein. The molecular basis of this disease is still a matter of debate and treatments have so far focused on managing symptoms. Drugs that can increase the amount of frataxin protein offer a possible therapy for the disease. One such drug is recombinant human erythropoietin (rhu-EPO). Here, we report the effects of rhu-EPO on frataxin mRNA and protein in primary fibroblast cell cultures derived from Friedreich's ataxia patients.

Read More: Recombinant human erythropoietin increases frataxin protein expression without ...

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