Author Archives: Joana Fernandes, PhD

SIRT3 Protein Needed for Supplement to Aid Heart in Friedreich’s Ataxia, Study Suggests

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…

MicroRNAs Levels in Blood May Diagnose Friedreich’s Ataxia and Those Patients with Heart Failure, Study Says

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,…

Researchers Create ‘Heart Cells in a Dish’ to Study FA Heart Disease

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…

Late-Onset Friedreich’s Ataxia May Be Confused with Another Genetic Disorder, Case Study Finds

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 Identify Molecular Pathway Leading to Neuronal Loss, Heart Disease in Mice with Friedreich’s Ataxia

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…

Patients with Late-onset Friedrich’s Ataxia May Have Different States of Sensory Nerve Conduction

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…

Restoration of Frataxin in Neurons from FA Patients May Halt Disease Progression

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…