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A long string of DNA repeats are the molecular basis for Friedreich’s ataxia. The beginning of the first intron of FXN, the gene encoding the protein frataxin, has an abnormally large number of GAA repeats in Friedreich’s ataxia patients compared to normal individuals. A large body of evidence shows that…

Researchers at Miguel Hernandez University and the University of Murcia in Spain have recently published in the journal Experimental Cell Research their results on genetic and epigenetic factors linked to Friedreich’s ataxia. The study is entitled “Novel aberrant genetic and epigenetic events…

It is well known that a DNA mutation causes Friedreich’s ataxia by reducing the production of frataxin protein. Patients with Friedreich’s ataxia often have several hundred “GAA repeats” in their DNA, whereas unaffected individuals have no more than 40 GAA repeats. What is less known is how exactly GAA repeats…

A new study recently published in the journal Neurology revealed a potential novel therapeutic approach for Friedreich’s ataxia based on analogs of incretin, a metabolic hormone that stimulates insulin secretion. The study is entitled “Study of beta cells and neurons indicate incretin analogs as…

Researchers at the University of Oxford in the United Kingdom recently published in the journal Human Molecular Genetics new insights into the molecular mechanisms behind the repression of the frataxin gene, which is associated with Friedreich’s ataxia. The study is entitled “Expanded GAA repeats impair…

Specialty biopharmaceutical Horizon Pharma plc has been awarded Fast Track status from the U.S. Food and Drug Administration (FDA) for the company’s ACTIMMUNE (interferon gamma-1b) to be used in patients with Friedreich’s ataxia (FA). ACTIMMUNE is a biologically developed protein resembling one produced naturally by the body to prevent infection,…

A new study was recently published in the journal Parkinsonism & Related Disorders, revealing that sleep disorders can be helpful in the differentiation of different ataxia types. The study is entitled “Differential Diagnosis of Sporadic Adult-Onset Ataxia: The Role of REM Sleep Behavior Disorder”…

Patients with Friedreich’s ataxia may have more damage to brain cells than was previously thought. A study from University of Duisburg-Essen in Germany led by Dr. Maria R. Stefanescu and principal investigator Dr. Dagmar Timmann used magnetic resonance imaging (MRI) to look at the levels of atrophy in various…

A research group in Germany at University of Regensburg that considers Friedreich’s ataxia “the most important recessive ataxia in the Caucasian population” is breaking down the complex disease using genetically modified fruit flies. Appearing in the journal Free Radical Biology and Medicine, their most…

Researchers at Wayne State University in Detroit and the University of Pennsylvania in Philadelphia, recently revealed the mechanism behind the iron binding process in the assembly of iron-sulfur (Fe-S) clusters, a pathway that is defective in disorders such as Friedreich’s ataxia. The study was published in the journal…