Author Archives: Patricia Inacio PhD

Increased Iron Storage Protein in Ataxia Patients May Have Protective Role

Researchers found two chemical treatments that increased iron storage protein, called mitochondria ferritin, in cells from a Friedreich’s ataxia patient. These results suggest a potential treatment option for protecting against mitochondrial oxidative damage in these patients. The study, “Characterization of human mitochondrial ferritin promoter: identification of transcription factors and…

Specific Cytokines Therapy Protected Neurons in Humanized Mouse Study

A cocktail of clinically approved cytokines for other diseases shows promising neuro-protective effects in a Friedreich’s ataxia (FA) humanized mouse model. The study, “Cytokine therapy-mediated neuroprotection in a Friedreich’s ataxia mouse model,” was published in the journal Annals of Neurology. FA is a severe neurological disease that affects the…

Research Award Granted for Spinocerebellar Ataxia Study that May Lead to Novel Therapy

A study titled “Oligonucleotide-based Therapy in BAC-Mouse Models of SCA14” by researchers at the University of Washington in Seattle was recognized with a Pioneer SCA (spinocerebellar ataxia) Translational Research Award for its potential to develop a future SCA therapy. Spinocerebellar ataxia type 14 (SCA14) is a dominant ataxia that, unlike Friedreich’s ataxia, is not caused…

Metabolic Alterations Found in Platelets of FA Patients May Serve as Therapeutic Biomarkers

Metabolic analysis of platelets from patients with Friedreich’s ataxia (FA), using liquid chromatography–mass spectrometry (LC-MS), revealed metabolic alterations that may be the focus of future therapeutics, according to a study, “Stable isotopes and LC–MS for monitoring metabolic disturbances in Friedreich’s ataxia platelets,” published in the Bioanalysis journal. FA is a genetic disease caused…

Loss of Frataxin Protein Leads to DNA Damage and Inflammation in Brain Cells, Researchers Say

Friedreich’s ataxia associated with DNA damage in microglia cells leads to an increase of PARP-1 protein, which, once inhibited, weakens microglia activation and disease behavior impairments, according to a study, “Frataxin Deficiency Promotes Excess Microglial DNA Damage and Inflammation that Is Rescued by PJ34,” published in the open access journal PLOS One.

Study Reports Case of Ataxia with Vitamin E Deficiency Misdiagnosed as Friedreich’s Ataxia

A recent study describes a case of ataxia with isolated vitamin E deficiency (AVED) that was initially misdiagnosed as Friedreich’s ataxia, delaying proper treatment. The study was published in the journal Case Reports in Neurological Medicine. AVED is a rare genetic disease characterized by progressive cerebellar ataxia, dorsal column signs, and pyramidal deficits on examination. Clinically,…

As Potential Therapy for Friedreich’s Ataxia, Researchers Study RNA Transcript Therapy to Deliver Frataxin mRNA

Scientists believe that delivery of functional frataxin mRNA via RNA transcript therapy (RTT) can become a potential therapy for Friedreich’s ataxia patients. The study, “Intrathecal delivery of frataxin mRNA encapsulated in lipid nanoparticles to dorsal root ganglia as a potential therapeutic for Friedreich’s ataxia,” was published in the journal Scientific Reports. Friedreich’s…

Deferiprone Effective At Treating Friedreich’s Ataxia-Induced Cardiac Disease

In a new study entitled “Efficient attenuation of Friedreich’s ataxia (FRDA) cardiomyopathy by modulation of iron homeostasis-human induced pluripotent stem cell (hiPSC) as a drug screening platform for FRDA,” researchers suggest that the chemical compound deferiprone, a mitochondrial permeable iron chelator, is an effective drug to treat Friedreich’s ataxia-mediated cardiomyopathy by…

Friedreich’s Ataxia Patients’ Clinical Characteristics Studies To Improve Translational Research

In a recent study entitled “Biological and clinical characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data,” researchers describe the biological and clinical characteristics of patients with Friedreich’s Ataxia as a model of clinical outcomes to be…