Author Archives: Maureen Newman

Frataxin Level Correlates With Friedreich’s Ataxia Severity

Although the basis of Friedreich’s ataxia lies in a genome-wide mutation in the frataxin gene that encodes the frataxin protein, not all tissues are affected by the disease. Some tissues function adequately, while others such as neuronal and cardiac tissues suffer from degenerated ability to function. Researchers have found that…

shRNA Molecules Reverse Friedreich’s Ataxia in Cells

A screen of molecules known as short-hairpin-loop-RNA (shRNA) revealed that certain features of Friedreich’s ataxia can be relieved through two specific shRNA sequences. In the laboratory of Dr. Robert B. Wilson at University of Pennsylvania School of Medicine, researchers conducted a study that exposed cells isolated from Friedreich’s ataxia patients…

Patient Telomeres on DNA Involved in FRDA Pathogenesis

Often times, researchers focus on cells from the brain or the heart when studying Friedreich’s ataxia. A new study from Brunel University London and University of Cambridge in the United Kingdom chose instead to focus on blood leukocytes and skin fibroblasts from patients with Friedreich’s ataxia. The reasoning was based…

Understanding Iron Balance is Vital to Treat Friedreich’s Ataxia

Maintaining iron balance in the mitochondria is of great importance to cell health and is a prominent area of study to understand Friedreich’s ataxia. Frataxin protein deficiency in Friedreich’s ataxia leads to accumulation of iron in the mitochondria, leading to extensive reactive oxygen species (ROS) damage and cell death. A group…

Tests Reveal Cardiomyopathy Associated With Freidreich’s Ataxia

Patients with Friedreich’s ataxia are at a high risk for developing hypertrophic cardiomyopathy, where the walls of the heart become thicker than normal. Little is known about hypertrophic cardiomyopathy disease progression in Friedreich’s ataxia patients, although the condition can be severely life-limiting. To address this lack…

DNA Mutation Induced By Friedreich’s Ataxia Repeats

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…

Cerebellar Changes in Ataxias Detected by fMRI

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…

Inhibiting Iron Transport Improves FA in Fruit Flies

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…

HDAC Inhibitors Studied as Novel Friedreich’s Ataxia Treatment

Inhibitors of 2-aminobenzamide histone deacetylase (HDAC) are a proposed new treatment for Friedreich’s ataxia. Applying HDAC inhibitors to neuronal cells derived from Friedreich’s ataxia patients’ induced-pluriopotent stem cells results in an increased expression of frataxin mRNA transcripts and protein. A group of researchers at The Scripps Research Institute in…

Late-Onset Friedreich’s Ataxia Accompanied by Vocal Dystonia

The vast majority of patients with Friedreich’s ataxia develop symptoms in the first or second decade of life, enabling an early diagnosis and early medical attention to alleviate symptoms of the disease. However, a small number of patients develop late-onset Friedreich’s ataxia (LOFA) between the ages of 25 and…

Friedreich’s Ataxia Research Pipeline Full of Potential Treatments

Although German physician Nikolaus Friedreich first recognized Friedreich’s ataxia in 1863, it was not until 1996 that two scientific teams discovered the underlying cause of the disease: a mutation in the gene for frataxin protein. Since that time, researchers have identified two types of mutations that cause Friedreich’s ataxia…

SCA3 Studied in C. Elegans with Grant from NAF

Joining Friedreich’s Ataxia in the list of ataxias is spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease. This disease is caused by mutations in the gene encoding protein ataxin-3 (ATXN3), unlike Friedreich’s ataxia, which is caused by a mutation in the gene encoding frataxin protein (FXN). Similar…

NAF Funds Research for Novel SCA3 Treatments

Earning the Pioneer SCA Translational Research Award from the National Ataxia Foundation, Thorsten Schmidt, PhD at University of Tubingen in Germany is developing a novel treatment for spinocerebellar ataxia type 3 (SCA3). His winning research, “Targeting the Intracellular Localization of Ataxin-3…

Friedreich’s Ataxia Treated With Vitamin B3 in Clinical Trial

Vitamin B3, a water soluble vitamin essential to processing fat and proteins in the human body, may also prove important to treating Friedreich’s Ataxia. A currently recruiting clinical trial from Imperial College London is studying the “Effect of Nicotinamide [Vitamin B3] in Friedreich’s Ataxia” to…

USF Researcher Studies Acetyl-L-Carnitine in Friedreich’s Ataxia

Patients with Friedreich’s ataxia commonly have difficulty walking due to imbalance issues or trouble conducting daily activities due to reduced upper arm function. Theresa Zesiewicz, MD, FAAN, from the University of South Florida (USF) in Tampa, is seeking to the study the course of these pains and is sponsoring a…

“Friedreich’s Ataxia Database” Created in EFACTS Clinical Trial

A large, international clinical trial sponsored by European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS) is currently recruiting 650 patients with genetically confirmed Friedreich’s Ataxia to benefit future research efforts through data acquisition and validation. “Patient Registry of the European Friedreich’s Ataxia Consortium for Translational…

Clinical Trial from Shire Tests Anti-Oxidant Molecule in Friedreich’s Ataxia

Biopharmaceutical company Shire, is sponsoring a clinical trial for adults with Friedreich’s ataxia (FA) and is currently enrolling participants. The phase 1 clinical trial is evaluating VP 20629 (indole-3-propionic acid) against a placebo to investigate the safety, tolerability, pharmacokinetics, and pharmacodynamics of treatment in FA patients 18 to 45…

IFN-γ-1b Helps 12 Friedreich’s Ataxia Patients in Trial

Results are in for an open-label phase 2 clinical trial of interferon gamma (IFN-γ) treatment for Friedreich’s ataxia (FRDA) sponsored by Children’s Hospital of Philadelphia along with collaborators at the Friedreich’s Ataxia Research Alliance and Vidara Therapeutics Research Ltd. David Lynch, MD, PhD, served as the principal investigator. The…