Iron chelation in the treatment of neurodegenerative diseases.

Dusek P, Schneider SA, Aaseth J. J Trace Elem Med Biol. 2016 Mar 24. pii: S0946-672X(16)30047-5. doi: 10.1016/j.jtemb.2016.03.010.

Several studies examining effect of chelation therapy in Friedreich’s ataxia have been conducted. Higher doses of deferiprone seem to worsen neurologic symptoms in FRDA; lower doses might be beneficial in younger patients with less severe disease. However, more evidence is needed.

Translation of Human-Induced Pluripotent Stem Cells: From Clinical Trial in a Dish to Precision Medicine

Nazish Sayed, Chun Liu, Joseph C. Wu, Journal of the American College of Cardiology, Volume 67, Issue 18, 10 May 2016, Pages 2161-2176, ISSN 0735-1097, doi:10.1016/j.jacc.2016.01.083.

Human-induced pluripotent stem cells (iPSCs) provide a new source of therapeutic cells free from the ethical issues or immune barriers of human embryonic stem cells. iPSC technology has expanded with 3 major applications: disease modeling, regenerative therapy, and drug discovery. Here we discuss, in a comprehensive manner, the recent advances in iPSC technology in relation to basic, clinical, and population health.

Constrictive Pericarditis Versus Restrictive Cardiomyopathy?

Mario J. Garcia, Journal of the American College of Cardiology, Volume 67, Issue 17, 3 May 2016, Pages 2061-2076, ISSN 0735-1097, doi:10.1016/j.jacc.2016.01.076.


Friedreich’s ataxia is an autosomal recessive neurodegenerative disorder. Ventricular arrhythmias and SCD are common. Early in the course of the disease, ECG and echocardiographic findings resemble those of hypertrophic cardiomyopathy, including symmetric LV hypertrophy, abnormal myocardial relaxation, and LV outflow obstruction. Over time, the restrictive phenotype evolves into a dilated phenotype. There is no specific treatment for this condition other than standard HF drugs. Implantable cardioverter-defibrillators are used for prevention of SCD, but a survival benefit has not been demonstrated.

Horizon Pharma plc Completes Target Enrollment of 90 Patients for Phase 3 Trial of ACTIMMUNE(R) (interferon gamma-1b) for the Treatment of People With Friedreich's Ataxia

DUBLIN, IRELAND -- (Marketwired) -- 05/05/16 -- Horizon Pharma plc today announced that it has completed target enrollment of its Phase 3 study evaluating ACTIMMUNE (interferon gamma-1b) for the treatment of people with Friedreich's ataxia (FA). The study (NCT02415127) has reached its target enrollment of 90 patients at four sites in the United States, and top-line results are expected by the end of 2016.

The Safety, Tolerability and Efficacy of ACTIMMUNE Dose Escalation in Friedreich's Ataxia study ("STEADFAST") is a randomized, multi-center, double-blind, placebo-controlled study with patients randomized 1:1 to receive subcutaneous doses of either ACTIMMUNE or placebo three times a week for a total of 26 weeks. After completion of the study, patients who participated in STEADFAST will have the opportunity to transition to an open-label extension study (NCT02593773).

Patent Granted for RNA Transcription Technology

Science & Enterprise, By Alan, on May 3rd, 2016.

3 May 2016. A technology that blocks RNA molecules from activating chemicals in the body suppressing the working of genes to treat or prevent disease received a U.S. patent. The technology was licensed to RaNA Therapeutics in Cambridge, Massachusetts, co-founded by lead inventor Jeannie Lee, a professor of genetics and pathology at Mass. General and Harvard Medical School.

The first therapies under development are treatments for the rare central nervous system disorders spinal muscular atrophy and Friedreich’s ataxia, both programs are still in preclinical stages.

Dorsal root ganglia in Friedreich ataxia: satellite cell proliferation and inflammation

Arnulf H. Koeppen, R. Liane Ramirez, Alyssa B. Becker and Joseph E. Mazurkiewicz. Acta Neuropathologica Communications, Neuroscience of Disease 20164:46 DOI: 10.1186/s40478-016-0288-5

We conclude that FA differentially affects the key cellular elements of DRG, and postulate that the disease causes loss of bidirectional trophic support between satellite cells and neurons.

Mitochondrial dysfunction and cell death in neurodegenerative diseases through nitroxidative stress

Mohammed Akbar, Musthafa Mohamed Essa, Ghazi Daradkeh, Mohamed A. Abdelmegeed, Youngshim Choi, Lubna Mahmood, Byoung-Joon Song, Brain Research, Available online 13 February 2016, ISSN 0006-8993, doi:10.1016/j.brainres.2016.02.016.

This review describe the recent research developments in the molecular mechanisms for mitochondrial dysfunction and tissue injury in neurodegenerative diseases and discuss translational research opportunities.

Frataxin and the molecular mechanism of mitochondrial iron-loading in Friedreich's ataxia.

Shannon Chiang, Zaklina Kovacevic, Sumit Sahni, Darius J.R. Lane, Angelica M. Merlot, Danuta S. Kalinowski, Michael L.-H. Huang, Des R. Richardson, Clinical Science Apr 22, 2016, 130 (11) 853-870; DOI: 10.1042/CS20160072

University of Alabama utilizes Mawi’s iSWAB-Protein buccal cell collection device for the detection of the mitochondrial protein Frataxin

Mawi DNA Technologies / News. April 27, 2016

Dr. Jill Butler from Dr. Marek Napierala’s lab at the University of Alabama Stem Cell Institute used our iSWAB-Protein non-invasive sample collection system for biomarker detection in buccal cells.

Role of neuroimaging in the diagnosis of hereditary cerebellar ataxias in childhood

Giulia Perucca, Nicolas Leboucq, Agathe Roubertie, François Rivier, Nicolas Menjot, Consuelo Valentini, Alain Bonafe, Journal of Neuroradiology, Available online 25 April 2016, ISSN 0150-9861, doi:10.1016/j.neurad.2016.03.006.

Friedreich ataxia (FA) is characterized on MRI bynormal morphology of the cerebellum and brainstem, withatrophy of the spinal cord . A rare involvementof dentate nuclei has been described. Cerebellaratrophy occurs late in the course of the disease.