Accept Cookies?
Provided by OpenGlobal E-commerce

Please wait while your page loads ...

 

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.


NQO1-Dependent Redox Cycling of Idebenone: Effects on Cellular Redox Potential and Energy Levels

Short-chain quinones are described as potent antioxidants and in the case of idebenone have already been under clinical investigation for the treatment of neuromuscular disorders. Due to their analogy to coenzyme Q10 (CoQ10), a long-chain quinone, they are widely regarded as a substitute for CoQ10. However, apart from their antioxidant function, this provides no clear rationale for their use in disorders with normal CoQ10 levels. Using recombinant NAD(P)H:quinone oxidoreductase (NQO) enzymes, we observed that contrary to CoQ10 short-chain quinones such as idebenone are good substrates for both NQO1 and NQO2. 

NQO1-Dependent Redox Cycling of Idebenone: Effects on Cellular Redox Potential and Energy Levels

Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia

Friedreich ataxia (FRDA) is an autosomal recessive disorder characterized by neurodegeneration and cardiomyopathy, and is the most common inherited ataxia. About 98% of individuals with FRDA are homozygous for an expansion of a GA A trinucleotide repeat sequence within the first intron of the FXN gene. The remaining individuals are compound heterozygotes for a GAA expansion and a point mutation. Pathogenic GAA expansion alleles are in the size range of 60 to >1300 repeats. The presence of a GAA repeat expansion results in the inhibition of FXN gene expression, reduced levels of full-length FXN transcript, and an insufficiency of the mitochondrial protein frataxin (1–4). Overall, an inverse correlation has been found between the size of the smaller GAA expansion and transcript levels, the amount of residual frataxin produced, and the age of onset of disease symptoms (5–9).

Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia

A combined nucleic Acid and protein analysis in friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design

Friedreich's ataxia (FRDA) is the most common hereditary ataxia among caucasians. The molecular defect in FRDA is the trinucleotide GAA expansion in the first intron of the FXN gene, which encodes frataxin. No studies have yet reported frataxin protein and mRNA levels in a large cohort of FRDA patients, carriers and controls.

A combined nucleic Acid and protein analysis in friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design

Brain diffusion-weighted imaging in Friedreich's ataxia

Friedreich ataxia (FRDA) is the commonest form of autosomal recessive ataxia. This study aimed to define the extent of the brain damage in FRDA patients and to identify in vivo markers of neurodegeneration, using diffusion-weighted imaging (DWI).

Brain diffusion-weighted imaging in Friedreich's ataxia

Cardiomyopathy of Friedreich's Ataxia: Use of Mouse Models to Understand Human Disease and Guide Therapeutic Development

Friedreich's ataxia is a multisystem disorder of mitochondrial function affecting primarily the heart and brain. Patients experience a severe cardiomyopathy that can progress to heart failure and death. Although the gene defect is known, the precise function of the deficient mitochondrial protein, frataxin, is not known and limits therapeutic development. 

Cardiomyopathy of Friedreich's Ataxia: Use of Mouse Models to Understand Human Disease and Guide Therapeutic Development

Page 156 of 195

SHARE

FacebookTwitterLinkedInYoutube
Event E.jpg

 

Archived in
  Scientific News


 

 

Tagged in
FARA Scientific News


Site Map     Privacy Policy     Service Terms     Log-in     Contact     Charity Navigator