Friedreich ataxia: New findings, new challenges

Friedreich ataxia: New findings, new challenges. David R. Lynch M.D., PhD and Lauren Seyer MS; Annals of Neurology, Accepted manuscript online: 27 AUG 2014 01:36AM EST | DOI: 10.1002/ana.24259

Scientists map the ‘editing marks’ on fly, worm, human genomes

Scientists map the ‘editing marks’ on fly, worm, human genomes. By Diana Lutz, NEWSROOM, Washington University in St. Louis. August 28, 2014

Comprehensive maps of these marks will allow them to test ways to safely restore marks altered by human disease

Epigenetic therapy for Friedreich's ataxia

Epigenetic therapy for Friedreich's ataxia;Elisabetta Soragni PhD, Wenyan Miao PhD, Marco Iudicello MD, David Jacoby MD, Stefania Demercanti M, Marinella Clerico MD, Filomena Longo MD, Antonio Piga MD, Sherman Ku PhD, Erica Campau BS, Jintang Du PhD, Pablo Penalver PhD1, Myriam Rai PhD Joseph C. Madara PhD, Kristopher Nazor PhD, Melinda O'Connor PhD, Anton Maximov PhD, Jeanne F. Loring PhD, Massimo Pandolfo MD, Luca Durelli MD, Joel M. Gottesfeld PhD and James R. Rusche PhD. Annals of Neurology, Accepted manuscript online: 27 AUG 2014 04:31AM EST | DOI: 10.1002/ana.24260

Processing of double-R-loops in (CAG)·(CTG) and C9orf72 (GGGGCC)·(GGCCCC) repeats causes instability.

Processing of double-R-loops in (CAG)·(CTG) and C9orf72 (GGGGCC)·(GGCCCC) repeats causes instability. Kaalak Reddy, Monika H.M. Schmidt, Jaimie M. Geist, Neha P. Thakkar, Gagan B. Panigrahi, Yuh-Hwa Wang and Christopher E. Pearson; Nucl. Acids Res. (2014) doi: 10.1093/nar/gku658 First published online: August 21, 2014

Open Access article distributed under the terms of the Creative Commons, FULL TEXT PDF

R-loops, transcriptionally-induced RNA:DNA hybrids, occurring at repeat tracts (CTG)n, (CAG)n, (CGG)n, (CCG)n and (GAA)n, are associated with diseases including myotonic dystrophy, Huntington's disease, fragile X and Friedreich's ataxia.

Cerebellum involvement in cortical sensorimotor circuits for the control of voluntary movements

Cerebellum involvement in cortical sensorimotor circuits for the control of voluntary movements. Rémi D Proville, Maria Spolidoro, Nicolas Guyon, Guillaume P Dugué, Fekrije Selimi, Philippe Isope, Daniela Popa & Clément Léna; Nature Neuroscience 17, 1233–1239 (2014) doi:10.1038/nn.3773

Towards Understanding RNA-Mediated Neurological Disorders

Towards Understanding RNA-Mediated Neurological Disorders. Ranhui Duan, Sumeet Sharma, Qiuping Xia, Kathryn Garber, Peng Jin; Journal of Genetics and Genomics, Available online 23 August 2014, ISSN 1673-8527, http://dx.doi.org/10.1016/j.jgg.2014.08.003.

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R loops are enriched over FXN intron 1 in cells with Friedreich ataxia-associated repeat expansions, compared to control cells. The formation of R loops precedes the presence of heterochromatin marks but correlates with epigenetic silencing of FXN and FMR1 and may be involved in the recruitment of enzymes involved in heterochromatinization.

Cerebellar pathology in Friedreich’s ataxia: Atrophied dentate nuclei with normal iron content

Cerebellar pathology in Friedreich’s ataxia: Atrophied dentate nuclei with normal iron content; K. Solbach, O. Kraff, M. Minnerop, A. Beck, L. Schöls, E.R. Gizewski, M.E. Ladd, D. Timmann; NeuroImage: Clinical, Available online 23 August 2014, ISSN 2213-1582, http://dx.doi.org/10.1016/j.nicl.2014.08.018.

Under a Creative Commons license, FULL TEXT PDF

Applying in vivo MRI methods we could demonstrate significant atrophy of the DN in the presence of normal iron content. The findings suggest that relaxation rates are not reliable biomarkers in clinical trials evaluating the potential effect of FA therapy.

Reaching tasks in an altered dynamic environment: Motor adaptation in FRDA patients

Reaching tasks in an altered dynamic environment: Motor adaptation in FRDA patients. (SIAMOC 2013 abstracts) M. Germanotta, M. Petrarca, S. Rossi, S. Carniel, E. Castelli, P. Cappa; Gait & Posture, Volume 40, Supplement 1, August 2014, Page S1, ISSN 0966-6362, http://dx.doi.org/10.1016/j.gaitpost.2014.05.018.

p53 directly regulates the transcription of the human frataxin gene and its lack of regulation in tumor cells decreases the utilization of mitochondrial iron

p53 directly regulates the transcription of the human frataxin gene and its lack of regulation in tumor cells decreases the utilization of mitochondrial iron. Rina Shimizu, Nguyen Ngoc Lan, Tran Tien Tai, Yuka Adachi, Asako Kawazoe, Anfeng Mu, Shigeru Taketani; Gene, Available online 23 August 2014, ISSN 0378-1119, http://dx.doi.org/10.1016/j.gene.2014.08.043.

Keywords: Frataxin; p53; Transcription; Heme biosynthesis; ALA; Cancerous cells

Study confirms close link between immune system and adult neurogenesis

Study confirms close link between immune system and adult neurogenesis. News Medical, Published on August 19, 2014.

these findings would stimulate a new area of research into immune therapies to target neurological diseases