Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease

Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease. Francis G. Blankenberg, Stephen L. Kinsman, Bruce H. Cohen, Michael L. Goris, Kenneth M. Spicer, Susan L. Perlman, Elliot J. Krane, Viktoria Kheifets, Martin Thoolen, Guy Miller, Gregory M. Enns, Molecular Genetics and Metabolism, Available online 28 September 2012.

KEYWORDS: Biomarkers, HMPAO, mitochondrial disease, EPI-743, redox, SPECT, Leigh syndrome, polymerase γ deficiency, MELAS, Friedreich ataxia, Kearns–Sayre syndrome, Pearson syndrome, mtDNA depletion syndrome.

Experts From Government, Industry, Patient Advocacy to Speak at U.S. Conference on Rare Diseases and Orphan Products

Experts From Government, Industry, Patient Advocacy to Speak at U.S. Conference on Rare Diseases and Orphan Products

WASHINGTON, Sept. 28, 2012 /PRNewswire-USNewswire/ -- Patient advocates, industry leaders, medical researchers, government professionals and investors will address together "Shaping the Future Now" at the 2nd annual U.S. Conference on Rare Diseases and Orphan Products in Washington, DC October 22 – 24

Ronald J. Bartek, President / Director / Co-founder, Friedreich's Ataxia Research Alliance is one of the speakers.

"It is unique in that it draws together all stakeholders to address the shared challenge - how to accelerate the development of safe, effective treatments for people with rare diseases."

Protein Stability and Dynamics Modulation: The Case of Human Frataxin

Protein Stability and Dynamics Modulation: The Case of Human Frataxin. Roman EA, Faraj SE, Gallo M, Salvay AG, Ferreiro DU, et al., PLoS ONE 7(9): e45743. doi:10.1371/journal.pone.0045743 (2012)

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Strategies to stimulate motor learning during vocal therapy in neurodegenerative diseases

Strategies to stimulate motor learning during vocal therapy in neurodegenerative diseases,  Estrategias para potenciar el aprendizaje motor en el tratamiento vocal de las enfermedades neurodegenerativas. Rosa M. Bermúdez de Alvear, A. Ginés Martínez Arquero;Revista de Logopedia, Foniatría y Audiología, Available online 24 September 2012

Language ESP

Keywords: Motor learning, Speech motor control, Treatment efficacy, Parkinson's disease, Outcomes generalization, Voice loudness, Neurodegenerative diseases, Lee Silverman voice treatment.

Palabras clave: Aprendizaje motor, Control motor del habla, Eficacia terapéutica, Enfermedad de Parkinson, Generalización de resultados, Intensidad vocal, Enfermedades neurodegenerativas, Tratamiento vocal intensivo.

Friedreich ataxia: more than a mitochondrial iron-sulfur cluster assembly disease

Friedreich ataxia: more than a mitochondrial iron-sulfur cluster assembly disease. Dr Pierre Rustin. IBT and TGPBB International Seminars, Tampereen yliopisto (Finland)

Understanding Friedreich's Ataxia: Insight into the Fe-S Cluster Biogenesis Pathway

Understanding Friedreich's Ataxia: Insight into the Fe-S Cluster Biogenesis Pathway. Andria Rodrigues, Jeremy Cook, Andrew Dancis, Timothy Stemmler. Wayne State University, School of medicine, Graduate Student Research Day (GSRD-XVI), Setember, 27/2012

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The Second Annual EFACTS (European Friedreich’s Ataxia Consortium for Translational Studies) Newsletter EFACTS NEWS

TheSecond Annual EFACTS (European Friedreich’s Ataxia Consortium forTranslational Studies) Newsletter EFACTS NEWS

Relation of Cytosolic Iron Excess to Cardiomyopathy of Friedreich's Ataxia

Relation of Cytosolic Iron Excess to Cardiomyopathy of Friedreich's Ataxia, R. Liane Ramirez, Jiang Qian, Paolo Santambrogio, Sonia Levi, Arnulf H. Koeppen. The American Journal of Cardiology, Available online 20 September 2012.

Keywords: Cardiomyopathy, Friedreich's ataxia, frataxin gene, iron (Fe)-sulfur clusters, sarcoplasmic Fe, cardiomyocyte hypertrophy, fiber necrosis, myocardial scarring, Fe, ferritin, ferroportin, zinc.

Ataxia rating scales--psychometric profiles, natural history and their application in clinical trials.

Ataxia rating scales--psychometric profiles, natural history and their application in clinical trials. Saute JA, Donis KC, Serrano-Munuera C, Genis D, Ramirez LT, Mazzetti P, Pérez LV, Latorre P, Sequeiros J, Matilla-Dueñas A, Jardim LB; Iberoamerican Multidisciplinary Network for the Study of Movement Disorders (RIBERMOV) Study Group. Cerebellum. 2012 Jun;11(2):488-504.

Keywords: systematic review, ataxia scales, natural history, clinical trials,ICARS, SARA, MICARS, BARS, UMSARS, FARS, NESSCA, INAS, CATSYS 2000, AFCS, CCFS CCFSw, SCAFI, FAIS, SARA, ICARS.

Mitochondrial Dynamics in Cardiovascular Health and Disease

Mitochondrial Dynamics in Cardiovascular Health and Disease ; Sang-Bing Ong, Andrew R. Hall, and Derek J. Hausenloy. Antioxidants & Redox Signaling. -Not available-, ahead of print. doi:10.1089/ars.2012.4777.

Keywords: Mitochondria, mitochondrial dynamics, fission and fusion proteins, cardiovascular health and disease, identification of novel therapeutic targets.

Binaural Speech Processing in Individuals with Auditory Neuropathy

Binaural Speech Processing in Individuals with Auditory Neuropathy; Gary Rance, Monique M. Ryan, Peter Carew, Louise A. Corben, Eppie Yiu, Johanna Tan, Martin B. Delatycki; Neuroscience, Available online 13 September 2012.

Keywords: Auditory neuropathy, Friedreich's ataxia, Charcot-Marie-Tooth, Binaural, Spatial processing, (FARS) Friedreich ataxia rating scale, speech reception threshold.

Revising the concept of efficacy in the vocal therapy of neurodegenerative diseases

Revisión del concepto de eficacia en el tratamiento vocal de las enfermedades neurodegenerativas; Revising the concept of efficacy in the vocal therapy of neurodegenerative diseases; Rosa M. Bermúdez de Alvear, A. Ginés Martínez Arquero; Revista de Logopedia, Foniatría y Audiología, Available online 10 September 2012

Keywords: Dysarthria, Laryngeal dysfunction, Treatment efficacy, Neurodegenerative diseases, Parkinson's disease, Respiratory insufficiency, Therapeutic outcomes, Voice and speech therapy

Palabras clave: Disartria, Disfunción laríngea, Eficacia terapéutica, Enfermedades neurodegenerativas, Enfermedad de Parkinson, Insuficiencia respiratoria, Resultados terapéuticos, Terapia vocal y del habla

Abstracts presented at the American Society of Gene & Cell Therapy’s 15th Annual Meeting, 2012, Philadelphia, Pennsylvania

317. AAV Based Gene Therapy Rescues the Murine Cardiac Phenotype Associated with Friedreich’s Ataxia
 Hélène Puccio, Brahim Belbellaa, Morgane Perdomini, Nathalie Cartier, Patrick Aubourg.


436. A Recombinant Frataxin Protein Fused witha Cell Penetrating Peptide Prevents the Death ofFibroblasts with Knock-Out Frataxin Genes
Jacques P. Tremblay,1 Zoé Coulombe,1 Pierre Chapdelaine.1

784. TALE proteins may be used to induce specific gene expression to treat some diseases

Jacques P. Tremblay, Pierre Chapdelaine, Zoé Coulombe, Joel Rousseau

835. Prospects for the Gene Therapy of Friereich’s Ataxia using Neurotrophic Factors

Yurika Katsu, Frida Loria and Javier Diaz-Nido

Will the floodgates open for gene therapy?

Nature Biotechnology 30, 805 (2012), doi:10.1038/nbt.2363 Published online, 10 September 2012

EDITORIAL.
In a matter of days, a momentous event will occur: a gene therapy will, for the first time anywhere in the Western hemisphere, be available commercially with full marketing approval. read more....

Study identifies genes associated with genomic expansions that cause disease

Simplest explanation of the scientific article : Genome-wide Screen Identifies Pathways that Govern GAA/TTC Repeat Fragility and Expansions in Dividing and Nondividing Yeast Cells

Transcranial ultrasound in adults and children with movement disorders

Transcranial ultrasound in adults and children with movement disorders; Jan Liman, Mathias Bähr, Pawel Kermer; Perspectives in Medicine, Volume 1, Issues 1–12, September 2012, Pages 349-352

Keywords: Ultrasound, Child, Pediatric, Movement disorder, TCS, Friedreich's Ataxia.

Analysis of the structural and mechanistic factors in antioxidants that preserve mitochondrial function and confer cytoprotection

Analysis of the structural and mechanistic factors in antioxidants that preserve mitochondrial function and confer cytoprotection; Arce, Pablo M.; Goldschmidt, Ruth; Khdour, Omar M.; Madathil, Manikandadas M.; Jaruvangsanti, Jennifer; Dey, Sriloy; Fash, David M.; Armstrong, Jeffrey S.; Hecht, Sidney M.; Bioorganic & Medicinal Chemistry , Volume 20 (17), Elsevier Sep 1, 2012

Keywords: Idebenone, Friedreich's Ataxia, pyridinol analogues, electron transport chain, mitichondrial function.

Friedreich ataxia and bladder disorders

Friedreich ataxia and bladder disorders; E. Guettard, M. Campech, C. Mignard, M. Masanovic; Annals of Physical and Rehabilitation Medicine, Volume 55, Supplement 1, October 2012, Page e377

Keywords: Friedreich ataxia, Bladder disorders, Quality of life.

Sniffing out the cerebellum

Sniffing out the cerebellum; Henry Houlden; J Neurol Neurosurg Psychiatry 2012;83:952-953 doi:10.1136/jnnp-2012-303136

Keywords: cerebellum, primary motor control organ, coordination, motor learning, attention, cognition, olfactory processing, Alzheimer's disease (AD), idiopathic Parkinson's disease (PD), spinocerebellar (SCA) Friedreich's ataxia.

Human mitochondrial ferritin improves respiratory function in yeast mutants deficient in iron-sulfur cluster biogenesis, but is not a functional homologue of yeast frataxin.

Human mitochondrial ferritin improves respiratory function in yeast mutants deficient in iron-sulfur cluster biogenesis, but is not a functional homologue of yeast frataxin.Sutak R, Seguin A, Garcia-Serres R, Oddou JL, Dancis A, Tachezy J, Latour JM, Camadro JM, Lesuisse E.; Microbiologyopen. 2012 Jun;1(2):95-104.

Keywords: human mitochondrial ferritin, frataxin-deficient yeast cells (Δyfh1), mitochondrial iron, insoluble particles of ferric phosphate, deficient in [Fe-S] assembly, functional homologue.

Genome-wide Screen Identifies Pathways that Govern GAA/TTC Repeat Fragility and Expansions in Dividing and Nondividing Yeast Cells

Genome-wide Screen Identifies Pathways that Govern GAA/TTC Repeat Fragility and Expansions in Dividing and Nondividing Yeast Cells; Yu Zhang, Alexander A. Shishkin, Yuri Nishida, Dana Marcinkowski-Desmond, Natalie Saini, Kirill V. Volkov, Sergei M. Mirkin, Kirill S. Lobachev; Molecular Cell, Available online 6 September 2012, http://dx.doi.org/10.1016/j.molcel.2012.08.002

Keywords: Triplex structure-forming GAA/TTC repeats, gene inactivation, Friedreich’s ataxia, chromosomal fragile sites, chromosomal rearrangements, DNA replication.

Re-purposing small-molecule drugs to treat the mitochondrial disease Friedreich's ataxia

Re-purposing small-molecule drugs to treat the mitochondrial disease Friedreich's ataxia;Sunil Sahdeo, Mark Pook, Marek Napierala, Joe Sarsero, Gino Cortopassi; Mitochondrion, Volume 12, Issue 5, September 2012, Pages 571-572, http://dx.doi.org/10.1016/j.mito.2012.07.056

No Abstract

Neurodegenerative disease: Microglia in early disease stages

Neurodegenerative disease: Microglia in early disease stages; Katie Kingwell; Nature Reviews Neurology 8, 475 (September 2012) | doi:10.1038/nrneurol.2012.172

Keywords: neurodegenerative diseases, microglia-mediated CNS inflammation, therapeutic targets and strategies.

Oral Administration of the Pimelic Diphenylamide HDAC Inhibitor HDACi 4b Is Unsuitable for Chronic Inhibition of HDAC Activity in the CNS In Vivo

Oral Administration of the Pimelic Diphenylamide HDAC Inhibitor HDACi 4b Is Unsuitable for Chronic Inhibition of HDAC Activity in the CNS In Vivo. Beconi M, Aziz O, Matthews K, Moumné L, O’Connell C, et al., PLoS ONE 7(9): e44498. doi:10.1371/journal.pone.0044498 (2012)
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 Keywords: Histone deacetylase (HDAC) inhibitors, neurological disorders, pimelic diphenylamide HDAC inhibitors, Friedreich’s ataxia, Huntington’s disease.

SIRT3 Regulation of Mitochondrial Oxidative Stress

SIRT3 Regulation of Mitochondrial Oxidative Stress. Alexandra S. Bause, Marcia C. Haigis; Experimental Gerontology, Available online 31 August 2012

Keywords: Mitochondria, reactive oxygen species, metabolism, energy production, mitochondrial ROS detoxification, mitochondrial sirtuin, SIRT3, mitochondrial ROS homeostasis.

Mitochondrion-toxic drugs given to patients with mitochondrial psychoses

Mitochondrion-toxic drugs given to patients with mitochondrial psychoses. Josef Finsterer; Behavioral and Brain Functions 2012, 8:45 doi:10.1186/1744-9081-8-45

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Drugs toxicity is always an added concern in diseases like FA which show greatly diminished mitochondrial function.