International Congress on Friedreich’s Ataxia and International conference on “DNA Structure in Health & Disease”

International Congress on Friedreich’s Ataxia and International conference on “DNA Structure in Health & Disease”.; 11th -13th April, 2015 at the All India Institute of Medical Sciences, New Delhi, India.

Frataxin inactivation leads to steroid deficiency in flies and human ovarian cells

Frataxin inactivation leads to steroid deficiency in flies and human ovarian cells . Amandine Palandri, David L'hôte, Joëlle Cohen-Tannoudji, Hervé Tricoire and Véronique Monnier; Hum. Mol. Genet. (2015) doi: 10.1093/hmg/ddv024 First published online: January 26, 2015

Reata Enrolls First Patient in the MOXIe Study, a Phase 2/3 Study Examining RTA 408 in Friedreich's Ataxia Patients

Reata Enrolls First Patient in the MOXIe Study, a Phase 2/3 Study Examining RTA 408 in Friedreich's Ataxia Patients. SOURCE: Reata Pharmaceuticals, Inc., January 29

IRVING, TX--(Marketwired - January 29, 2015) - Reata announces enrollment of the first patient in a Phase 2 dose-ranging study examining the safety, tolerability, and efficacy of RTA 408 Oral Capsules versus placebo for the treatment of patients with Friedreich's ataxia.

Project: Elucidating the molecular basis of gene silencing by an ORC-HP1 interaction and their contribution to human health disorders

Project: Elucidating the molecular basis of gene silencing by an ORC-HP1 interaction and their contribution to human health disorders. Principal Investigator: Christian Speck, Imperial College London, Department Name: Institute of Clinical Sciences. Funded Period: sep 14 - ago 17

We will analyse the effect of ORC-HP1 interactions for its normal role in cells and in the context of the epigenetic disease, Friedreich's Ataxia, to understand the functional relevance of the complex.

Neurodegenerative Diseases and Therapeutic Strategies using Iron chelators

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, Available online 22 January 2015, ISSN 0946-672X, http://dx.doi.org/10.1016/j.jtemb.2014.12.012.

Preliminary results from trials of iron chelation therapy in these neurodegenerative diseases is reviewed.

Genome-Engineering Tools to Establish Accurate Reporter Cell Lines That Enable Identification of Therapeutic Strategies to Treat Friedreich’s Ataxia

Genome-Engineering Tools to Establish Accurate Reporter Cell Lines That Enable Identification of Therapeutic Strategies to Treat Friedreich’s Ataxia. Rodrigo Villaseñor, Loren Miraglia, Angelica Romero, Buu Tu, Tanel Punga, Philip Knuckles, Stephan Duss, Tony Orth, and Marc Bühler; J Biomol Screen 1087057114568071, first published on January 23, 2015 as doi:10.1177/1087057114568071


Rational design of small-molecule inhibitors of the identified frataxin repressors and/or high-throughput screening of large siRNA or compound libraries with our system may yield treatments for Friedreich’s ataxia.

Cerebellar transcriptional alterations with Purkinje cell dysfunction and loss in mice lacking PGC-1α

Cerebellar transcriptional alterations with Purkinje cell dysfunction and loss in mice lacking PGC-1α. Lucas EK, Reid CS, McMeekin LJ, Dougherty SE, Floyd CL, Cowell RM. Front Cell Neurosci. 2015 Jan 6;8:441. doi: 10.3389/fncel.2014.00441. eCollection 2014.

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Recently, PGC-1α was also found to be involved in the pathology of Friedreich Ataxia. Friedreich Ataxia is an autosomal recessive disorder and is the most common of the early-onset hereditary ataxias. Friedreich Ataxia is caused by an expanded GAA triplet repeat in the first intron of the frataxin gene, resulting in a 65–95% reduction in frataxin expression in Friedreich Ataxia patients . Transcript expression of PGC-1α and its downstream target MnSOD was found to be decreased in fibroblasts and lymphoblasts of patients with Friedreich Ataxia. In fact, transcript expression of frataxin is highly correlated with that of PGC-1α in Friedreich Ataxia and control cells, and knock down of frataxin in cell culture also decreases transcript expression of PGC-1α.

Current Experience in Testing Mitochondrial Nutrients in Disorders Featuring Oxidative Stress and Mitochondrial Dysfunction: Rational Design of Chemoprevention Trials

Current Experience in Testing Mitochondrial Nutrients in Disorders Featuring Oxidative Stress and Mitochondrial Dysfunction: Rational Design of Chemoprevention Trials. Giovanni Pagano, Annarita Aiello Talamanca, Giuseppe Castello, Mario D. Cordero, Marco d'Ischia, Maria Nicola Gadaleta, Federico V. Pallardó, Sandra Petrović, Luca Tiano and Adriana Zatterale; Int. J. Mol. Sci. 2014, 15(11), 20169-20208; doi:10.3390/ijms151120169

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Mammalian frataxin directly enhances sulfur transfer of NFS1 persulfide to both ISCU and free thiols.

Mammalian frataxin directly enhances sulfur transfer of NFS1 persulfide to both ISCU and free thiols. Aubérie Parent, Xavier Elduque, David Cornu, Laura Belot, Jean-Pierre Le Caer, Anna Grandas, Michel B. Toledano, Benoit D’Autréaux; Nature Communications 6, doi:10.1038/ncomms6686, Published 19 January 2015

These data raise important questions on the physiological mechanism of Fe-S cluster assembly and point to a unique function of ​frataxin as an enhancer of sulfur transfer within the ​NFS1–​ISD11–​ISCU complex.

The cerebellum and sleep

The cerebellum and sleep. DelRosso LM, Hoque R; Neurologic clinics 32:4 2014 Nov pg 893-900 doi:10.1016/j.ncl.2014.07.003

The cerebellum has an important role in sleep. Certain sleep disorders have demonstrated decreased activity in the cerebellum, and sleep complaints are common in patients with cerebellar diseases such as spinocerebellar ataxia, Friedreich ataxia, Joubert syndrome, and ataxia-telangiectasia.

"Both Sides of the Wheelchair": The Views of Individuals with, and Parents of Individuals with Friedreich Ataxia Regarding Pre-symptomatic Testing of Minors.

"Both Sides of the Wheelchair": The Views of Individuals with, and Parents of Individuals with Friedreich Ataxia Regarding Pre-symptomatic Testing of Minors. Lowe GC, Corben LA, Duncan RE, Yoon G, Delatycki MB, J Genet Couns. 2015 Jan 17. [Epub ahead of print]

The dilemma of how to manage the desires of some individuals and families affected by FRDA to access testing, when there is a lack of professional consensus

Évolution des paramètres spatio-temporels de la marche dans l’ataxie de Friedreich. Étude sur une population de 31 jeunes marchants,

Évolution des paramètres spatio-temporels de la marche dans l’ataxie de Friedreich. Étude sur une population de 31 jeunes marchants. Bastien Roche, Isabelle Husson, Rodolphe Martin, Kinésithérapie, la Revue, Volume 15, Issue 158, February 2015, Pages 35-36, ISSN 1779-0123, http://dx.doi.org/10.1016/j.kine.2014.11.041.

Avec 1500 personnes touchées en France, l’ataxie de Friedreich est l’ataxie héréditaire à transmission autosomique récessive la plus courante.

ACTIMMUNE, Phase 3 clinical study will begin enrolling patients in the second quarter of 2015

ACTIMMUNE, Phase 3 clinical study will begin enrolling patients in the second quarter of 2015. StreetInsider.com, January 12, 2015

It is anticipated that approximately 110 subjects will be screened at four U.S. centers for eligibility to randomize approximately 90 subjects 1:1 to receive either ACTIMMUNE or placebo. The Company anticipates the study will take 18 months to complete.

Friedreich's footprint

Friedreich's footprint. Steven Goodrick, The Lancet Neurology, Volume 14, Issue 2, February 2015, Page 141, ISSN 1474-4422, http://dx.doi.org/10.1016/S1474-4422(15)70005-0.

We can only hope that the time to a treatment or cure will not be so long.

Mitochondrial proteases and protein quality control in ageing and longevity

Mitochondrial proteases and protein quality control in ageing and longevity. Marie-Paule Hamon, Anne-Laure Bulteau, Bertrand Friguet, Ageing Research Reviews, Available online 8 January 2015, ISSN 1568-1637, http://dx.doi.org/10.1016/j.arr.2014.12.010.

Concomitant increased Lon and ClpP levels and loss of mitochondrial Fe-S proteins have been found in the muscle creatine kinase mouse heart model for Friedreich ataxia. To our knowledge, no Lon mutation has been identified to date in patients enabling the determination of a phenotype associated with a Lon defect. Nevertheless, its involvement in age-related and other diseases may consider using it as target for anti-ageing strategy or disease treatments.

Variations in ClpP levels have been noted in hereditary spastic paraplegia and Friedreich ataxia. As for Lon, due to its its involvement in age-related and other diseases, the Clp protease may be considered as a target for disease treatments or anti-ageing strategy.

Friedreich Ataxia: Failure of GABA-ergic and Glycinergic Synaptic Transmission in the Dentate Nucleus.

Friedreich Ataxia: Failure of GABA-ergic and Glycinergic Synaptic Transmission in the Dentate Nucleus. Koeppen, Arnulf H. MD; Ramirez, R. Liane MS; Becker, Alyssa B. BA; Feustel, Paul J. PhD; Mazurkiewicz, Joseph E. PhD; Journal of Neuropathology & Experimental Neurology, January 8, 2015, doi: 10.1097/NEN.0000000000000160

Biogenesis of cytosolic and nuclear iron-sulfur proteins and their role in genome stability

Biogenesis of cytosolic and nuclear iron-sulfur proteins and their role in genome stability. Viktoria Désirée Paul, Roland Lill, Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, Available online 10 January 2015, ISSN 0167-4889, http://dx.doi.org/10.1016/j.bbamcr.2014.12.018.

Isotope-Reinforced Polyunsaturated Fatty Acids Protect Mitochondria from Oxidative Stress

Isotope-Reinforced Polyunsaturated Fatty Acids Protect Mitochondria from Oxidative Stress. Alexander Y. Andreyev, Hui S. Tsui, Ginger L. Milne, Vadim V. Shmanai, Andrei V. Bekish, Maksim A. Fomich, Minhhan N. Pham, Yvonne Nong, Anne N. Murphy, Catherine F. Clarke, Mikhail S. Shchepinov, Free Radical Biology and Medicine, Available online 8 January 2015, ISSN 0891-5849, http://dx.doi.org/10.1016/j.freeradbiomed.2014.12.023.

Gait and Balance in Adults with Friedreich's Ataxia

Gait and Balance in Adults with Friedreich's Ataxia. Jeannie Stephenson, Theresa Zesiewicz, Clifton Gooch, Lynn Wecker, Kelly Sullivan, Israt Jahan, Seok Hun Kim, Gait & Posture, Available online 8 January 2015, ISSN 0966-6362, http://dx.doi.org/10.1016/j.gaitpost.2015.01.002.

A novel model for brain iron uptake: introducing the concept of regulation

A novel model for brain iron uptake: introducing the concept of regulation. Ian A Simpson, Padmavathi Ponnuru, Marianne E Klinger, Roland L Myers, Kavi Devraj, Christopher L Coe, Gabriele R Lubach, Anthony Carruthers and James R Connor, Journal of Cerebral Blood Flow & Metabolism (2015) 35, 48–57; doi:10.1038/jcbfm.2014.168; published online 15 October 2014

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Friedreich's ataxia: the European consortium

Friedreich's ataxia: the European consortium. David R Lynch, Susan L Perlman, The Lancet Neurology, Available online 5 January 2015, ISSN 1474-4422, http://dx.doi.org/10.1016/S1474-4422(14)70327-8.

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data. Kathrin Reetz, Imis Dogan, Ana S Costa, Manuel Dafotakis, Kathrin Fedosov, Paola Giunti, Michael H Parkinson, Mary G Sweeney, Caterina Mariotti, Marta Panzeri, Lorenzo Nanetti, Javier Arpa, Irene Sanz-Gallego, Alexandra Durr, Perrine Charles, Sylvia Boesch, Wolfgang Nachbauer, Thomas Klopstock, Ivan Karin, Chantal Depondt, Jennifer Müller vom Hagen, Ludger Schöls, Ilaria A Giordano, Thomas Klockgether, Katrin Bürk, Massimo Pandolfo, Jörg B Schulz. In Press, Corrected Proof, Available online 5 January 2015, DOI: http://dx.doi.org/10.1016/S1474-4422(14)70321-7

The Impact of Base Excision DNA Repair in Age-Related Neurodegenerative Diseases

The Impact of Base Excision DNA Repair in Age-Related Neurodegenerative Diseases. Giovana S. Leandro, Peter Sykora, Vilhelm A. Bohr, Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Available online 4 January 2015, ISSN 0027-5107, http://dx.doi.org/10.1016/j.mrfmmm.2014.12.011.

Grant Alert: Modeling Friedreich Ataxia with Patient iPSC-derived Neurons Medizinische Universitt Innsbruck Austrian Science Fund FWF award

Grant Alert: Modeling Friedreich Ataxia with Patient iPSC-derived Neurons Medizinische Universitt Innsbruck Austrian Science Fund FWF award . Source: GRIST Grant #P_26886_B19, Organisation: Medizinische Universität Innsbruck (Austrian Science Fund FWF award)

The emerging role of 5-hydroxymethylcytosine in neurodegenerative diseases

The emerging role of 5-hydroxymethylcytosine in neurodegenerative diseases. Al-Mahdawi S, Virmouni SA, Pook MA; Frontiers in neuroscience 8: 2014 pg 397, doi: 10.3389/fnins.2014.00397

Unveiling a common mechanism of apoptosis in β-cells and neurons in Friedreich's ataxia.

Unveiling a common mechanism of apoptosis in β-cells and neurons in Friedreich's ataxia. Igoillo-Esteve M, Gurgul-Convey E, Hu A, Romagueira Bichara Dos Santos L, Abdulkarim B, Chintawar S, Marselli L, Marchetti P, Jonas J, Eizirik DL, Pandolfo M, Cnop M; Hum. Mol. Genet. (2014) doi: 10.1093/hmg/ddu745