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.

Mitochondrial DNA damage induced autophagy, cell death, and disease

Bennett Van Houten, Senyene E. Hunter, and Joel N. Meyer; Frontiers in Bioscience, Landmark, 21, 42-54, January 1, 2016.
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Several human pathologies have been associated with free radical damage and subsequent mtDNA damage and mitochondrial dysfunction. These diseases include diabetes mellitus, liver diseases (e.g. hemochromatosis), cardiovascular disease (e.g. atherosclerosis) and several neurodegenerative diseases (e.g. Alzheimer’s, Parkinson’s Disease, Friedreich’s Ataxia and Huntington’s disease). In fact, multiple studies have linked human diseases associated with oxidative stress and loss of mitochondrial function to mtDNA damage

Genome Engineering with TALE and CRISPR Systems in Neuroscience

Han B. Lee, Brynn N. Sundberg, Ashley N. Sigafoos, and Karl J. Clark. Front Genet. 2016; 7: 47. doi: 10.3389/fgene.2016.00047

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These technologies mirror and extend beyond classic gene targeting methods contributing to the development of novel tools for basic and clinical neuroscience. In this Review, we discuss the recent development in genome engineering and potential applications of this technology in the field of neuroscience.

Neurodegenerative diseases and therapeutic strategies using iron chelators

Roberta J. Ward, David T. Dexter, Robert R. Crichton, Journal of Trace Elements in Medicine and Biology, Volume 31, July 2015, Pages 267-273, ISSN 0946-672X, doi: 10.1016/j.jtemb.2014.12.012.

Evidence for metal involvement in Parkinson's and Alzheimer's disease as well as Friedreich's ataxia and multiple sclerosis is presented. Preliminary results from trials of iron chelation therapy in these neurodegenerative diseases are reviewed. Considering the importance of metal ions in the normal functions of the human brain, it is not surprising that dysregulation of metal homeostasis should have harmful effects on brain function. The therapeutic utilisation of iron chelators in neurodegenerative diseases is still in its infancy.

Dual Role of ROS as Signal and Stress Agents: Iron Tips the Balance in favor of Toxic Effects

Elena Gammella, Stefania Recalcati, and Gaetano Cairo. Oxidative Medicine and Cellular Longevity, Volume 2016 (2016), Article ID 8629024, 9 pages, doi:10.1155/2016/8629024

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Abundant evidence shows that a number of neurodegenerative disorders are characterized by regional iron accumulation in particular areas of the central and/or peripheral nervous systems.
This is often caused by cellular iron redistribution and may result in iron-catalyzed Fenton chemistry.Friedrich's ataxia (FRDA) is a paradigmatic example because the disruption of iron homeostasis in this disease has been well defined. The disease results from loss of function mutations (most often triplet expansion) in the FXN gene that lead to decreased expression of frataxin, a mitochondrial iron-binding protein that interacts with proteins involved in the mitochondrial Fe-S cluster biogenesis. In patients, frataxin deficiency results in disruption of Fe-S cluster biosynthesis, severe mitochondrial iron overload, a hallmark of Fe-S defects, and increased sensitivity to oxidative stress.