Author Archives: Joana Fernandes, PhD

A protein called SIRT3 was essential to restore the heart contractility and energy metabolism that can result from an energy-promoting supplement called nicotinamide mononucleotide (NMN), researchers report from a study in Friedreich’s ataxia mouse models. The study, “Nicotinamide mononucleotide requires SIRT3 to improve cardiac function and bioenergetics in a Friedreich’s ataxia cardiomyopathy model,” was…

Seven microRNAs that circulate in the blood may serve as biomarkers that help clinicians to diagnose Friedreich’s ataxia, according to results of a recent study. High levels of one of these molecules, called miR-323-3p, also has the potential to identify those patients with disease-associated cardiomyopathy (heart failure), the researchers report. Their study,…

Australian researchers have successfully turned stem cells from Friedreich’s ataxia (FA) patients into heart cells to study molecular anomalies that may contribute to this disease. These “heart cells in a dish” provide valuable information for the design of novel treatments. Their study, “Friedreich’s ataxia induced pluripotent stem cell-derived cardiomyocytes display electrophysiological…

Researchers working in Friedreich’s ataxia may submit their project proposals for funding by two grants awarded by the Friedreich’s Ataxia Research Alliance (FARA), the Kyle Bryant Translational Research Award and the Bronya J. Keats International Research Collaboration Award. To apply researchers need to submit a letter of intent…

Patients with Friedreich’s ataxia (FA) and caregivers may benefit from participating in the upcoming Patient-Focused Drug Development meeting by the U.S. Food and Drug Administration (FDA). The meeting will be held at the College Park Marriott and Conference Center, Hyattsville, Maryland, on June 2 (8 a.m.-12:30 p.m.). After the meeting, there…

Researchers may have found a new therapeutic target for the management of Friedreich’s ataxia. A study, “E3 Ligase RNF126 Directly Ubiquitinates Frataxin, Promoting Its Degradation: Identification Of A Potential Therapeutic Target For Friedreich Ataxia,” was published in the journal Cell Reports. Friedrich’s ataxia is characterized by reduced expression…

Equistasi, a medical device, may improve limb and gait ataxia — a loss of control of voluntary muscular movement — in patients with hereditary cerebellar ataxia, such as Friedreich’s ataxia, but more studies are necessary to confirm these findings, researchers said. The study, “A Wearable Proprioceptive Stabilizer For…

Symptoms of late-onset Friedreich’s ataxia may be confused with those of another genetic disorder, Charcot–Marie–Tooth (CMT) disease, according to a case study. Researchers called for a careful evaluation of patients to prevent misdiagnosis. The study, “Late-Onset Friedreich’s Ataxia (LOFA) Mimicking Charcot–Marie–Tooth Disease Type 2: What Is Similar And What…

Researchers have successfully corrected a mutated frataxin gene that leads to reduced production of the frataxin (FTX) protein and development of disease in mice, according to new research. This achievement provides new insight into laboratory methods to study the disease and supports the therapeutic potential of gene editing techniques to…

Researchers have identified the molecular mechanism through which loss of frataxin, the protein missing in Friedreich’s ataxia (FA), causes cell damage leading to neurodegeneration, according to a new mouse study. This finding may prove helpful in designing new therapies to treat Friedreich’s ataxia patients. The study, “Loss Of Frataxin…

Restoring normal frataxin production, the protein missing in Friedrich’s ataxia (FA), may become possible in the future, according to research recently published in the journal PLoS One. The study is titled “Disruption Of Higher Order DNA Structures In Friedreich’s Ataxia (GAA)n Repeats By PNA Or LNA Targeting,” and was…

Patients with late-onset Friedrich’s ataxia (LOFA) may present variable sensory nerve conduction, according to new research. The study, “Variable Sensory Nerve Conduction Parameters In Late Onset Friedreich Ataxia,” was published in the journal Muscle & Nerve. Nerve conduction studies are commonly performed by neurology specialists to assess the…

Researchers report that the analysis of the neurological changes occurring in patients with Friedrich’s Ataxia (FDRA) may serve as prediction factors of disease progression and be useful in the design of clinical trials to investigate future therapies. The findings suggest, namely, that clinical trials would benefit from recruitment of younger…

Recent research suggests that correcting the frataxin deficiency in neurons derived from Friedrich’s ataxia (FA) patients may not only stop disease progression, it may also lead to clinical improvement by rescuing dysfunctional surviving neurons. The study, “Friedreich ataxia induced pluripotent stem cell-derived neurons show a cellular phenotype that is corrected…

A new study from the University of California reported several unknown neurobehavioral deficits observed in an animal model for Friedrich’s ataxia (FA) that can be used to assess the effect of potential drug therapies. The study, “Neurobehavioral deficits in the KIKO mouse model of Friedreich’s ataxia,” was…