RNA-mediated toxicity in neurodegenerative disease

RNA-mediated toxicity in neurodegenerative disease. Veronique V. Belzil, Tania F. Gendron, Leonard Petrucelli. Molecular and Cellular Neuroscience, Available online 29 December 2012

Keywords: RNA processing, bidirectional transcription, RAN translation, RNA foci, neurodegenerative diseases, mouse models, non-coding repeat expansions.

ViroPharma is set to initiate VP20629 Phase II trial in the second half of 2013

ViroPharma is set to initiate VP20629 Phase II trial in the second half of 2013

ViroPharma: Strengthening Financial Profile & Pipeline Indicate Long-Term Upside, Ivan Deryugin, December 27, 2012

VP20629 is licensed from Intellect Neurosciences for the treatment of Friedreich’s Ataxia (FA), a rare neurodegenerative disease that affects about 1 in 50,000 people. Symptoms of FA include heart disease, speech problems, and gait disturbance. It is estimated that there are 6,000 FA patients here in the United States. Phase I data for VP20629 showed that the drug was well-tolerated at all dose levels, and ViroPharma is set to initiate a Phase II trial in the second half of 2013, and the company plans to file for orphan drug status once Phase II data is available

About VP 20629

Missense Mutations Linked to Friedreich Ataxia Have Different but Synergistic Effects on Mitochondrial Frataxin Isoforms

Missense Mutations Linked to Friedreich Ataxia Have Different but Synergistic Effects on Mitochondrial Frataxin Isoforms . Hongqiao Li, Oleksandr Gakh, Douglas Y. Smith IV, Wasantha K Ranatunga and Grazia Isaya. J. Biol. Chem. jbc.M112.435263. First Published on December 26, 2012, doi:10.1074/jbc.M112.435263

Full text pdf

Mammalian frataxin controls sulfur production and iron entry during de novo Fe4S4 cluster assembly

Mammalian frataxin controls sulfur production and iron entry during de novo Fe4S4 cluster assembly. Florent Colin , Alain Martelli , Martin Clémancey , Jean-Marc Latour , Serge Gambarelli , Laura Zeppieri , Catherine Birck , Adeline Page , Hélène Puccio , and Sandrine Ollagnier de Choudens. J. Am. Chem. Soc., Just Accepted Manuscript, DOI: 10.1021/ja308736e. Publication Date (Web): December 22, 2012

Keywords: Fe-S clusters, cysteine desulfurase complex (NFS1/ISD11), frataxin (FXN), Freidreich’s ataxia, cysteine desulfurization, aconitase (mACO2).

Diabetes Mellitus in Children and Adolescents with Genetic Syndromes.

Diabetes Mellitus in Children and Adolescents with Genetic Syndromes. Schmidt F, Kapellen TM, Wiegand S, Herbst A, Wolf J, Fröhlich-Reiterer EE, Rabl W, Rohrer T, Holl RW; Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association [2012, 120(10):579-585]

Keywords: genetic syndromes, diabetes mellitus (DM), frequency, treatment strategies, long-term complications, Turner syndrome (TS), Prader-Willi syndrome (PWS), Friedreich ataxia (FA), Alström syndrome (AS), Klinefelter syndrome (KS), Bardet-Biedl syndrome (BBS), Berardinelli-Seip syndrome (BSS), Down syndrome (DS).

USF researchers study medication that may help patients with incurable neuro-muscular disorder

USF researchers study medication that may help patients with incurable neuro-muscular disorder. abc ACTION NEWS; Thursday, December 20, 2012

“Currently there are no treatments or cures for Friedreich's Ataxia, but there's a possibility for a new drug that USF will be spearheading in the next month called EPI – 743"

Kinetics of the Triplex-Duplex Transition in DNA

Kinetics of the Triplex-Duplex Transition in DNA. Il-Buem Lee, Seok-Cheol Hong, Nam-Kyung Lee, Albert Johner; Biophysical Journal, Volume 103, Issue 12, 19 December 2012, Pages 2492-2501. http://dx.doi.org/10.1016/j.bpj.2012.10.029

Keywords: triplex folding/unfolding, metastable states.

Clarification: Conditions like FA involve triplex DNA structures that arise from tri nucleotide repeat expansions.

Heart Mitochondria: Receivers and Transmitters of Signals

Heart Mitochondria: Receivers and Transmitters of Signals. José Marín-García M.D.;
Mitochondria and Their Role in Cardiovascular Disease
2013, pp 157-181

Keywords: ATP, heart mitochondria, regulatory and signaling events, heart failure (HF), myocardial ischemia and reperfusion injury (IRI), hypoxia, oxidative stress (OS), hormonal and cytokine stimuli, interorganelle communication, hypertrophic growth, cell death, interrelated signaling pathways.

Alkylaminoquinones as Multifunctional Radical Quenchers

Alkylaminoquinones as Multifunctional Radical Quenchers. The Biodesign Institute Arizona State University.

Researchers at the Biodesign Institute of Arizona State University have developed novel
multifunctional radical quenchers (MRQs) for the treatment of mitochondrial disorders
Therapeutic candidates for mitochondrial diseases such as Friedreich’s ataxia

Extramembranous and Interosseous Technique of Tibialis Posterior Tendon Transfer

Extramembranous and Interosseous Technique of Tibialis Posterior Tendon Transfer.ClinicalTrials.gov Identifier: NCT01751503; First received: December 11, 2012

Iva Hauptmannova, Royal National Orthopaedic Hospital NHS Trust, London, Middlesex, United Kingdom

Foot drop deformity is a life limiting condition characterized by loss of ankle dorsiflexion and eversion. Main condition leading to drop foot condition include irrecoverable muscle and nerve injuries, poliomyelitis, drug poisoning, strokes, cerebral palsy, Charcot - Marie - Tooth disease, meningomyelocele, club foot, Friedreich's ataxia and Leprosy.

High-performance neuroprosthetic control by an individual with tetraplegia

High-performance neuroprosthetic control by an individual with tetraplegia. Jennifer L Collinger PhD, Brian Wodlinger PhD, John E Downey BS, Wei Wang PhD, Elizabeth C Tyler-Kabara MD, Douglas J Weber PhD, Angus JC McMorland PhD, Meel Velliste PhD, Prof Michael L Boninger MD, Prof Andrew B Schwartz PhD. The Lancet, Early Online Publication, 17 December 2012, doi:10.1016/S0140-6736(12)61816-9


Paralyzed Woman's Mind Controls Robotic Arm. Written by Sarah Glynn, Medical News Today, Article Date: 17 Dec 2012.

A paralyzed woman struggling with Spinocerebellar degeneration has been able to control a robotic prosthetic hand using her thoughts.

The countdown for rare disease strategies is underway

The countdown for rare disease strategies is underway. The Lancet Neurology, Volume 12, Issue 1, Page 1, January 2013

Keywords: Rare Disease Day, national plans and strategies, European Organisation for Rare Diseases (EURODIS), to raise awareness, NEUROMICS project, registries, US National Association for Rare Disorders (NORD), Canadian Organization for Rare Disorders (CORD).

Freidreich's ataxia with retained reflexes: a phenotype and genotype correlation

Freidreich's ataxia with retained reflexes: a phenotype and genotype correlation. Rajesh Verma, Mani Gupta. BMJ Case Reports 2012; doi:10.1136/bcr-2012-007496

Keywords: progressive gait ataxia, type 1 diabetes mellitus, babinski sign, Romberg's sign,deep tendon reflexes, Electrocardiogram, echocardiogram.

TREATMENT OF FRATAXIN (FXN) RELATED DISEASES BY INHIBITION OF NATURAL ANTISENSE TRANSCRIPT TO FXN

TREATMENT OF FRATAXIN (FXN) RELATED DISEASES BY INHIBITION OF NATURAL ANTISENSE TRANSCRIPT TO FXN. CuRNA, Inc.; COLLARD, Joseph;
KHORKOVA SHERMAN, Olga. Patent application number WO2012/170771A1

Functional Consequences of Oculomotor Disorders in Hereditary Cerebellar Ataxias.

Functional Consequences of Oculomotor Disorders in Hereditary Cerebellar Ataxias. Alexandre MF, Rivaud-Péchoux S, Challe G, Durr A, Gaymard B.; Cerebellum. 2012 Dec 14. [Epub ahead of print].

Keywords: Saccadic eye movements, spino-cerebellar and Friedreich ataxia.

Mitochondria in Pediatric Cardiovascular Diseases

Mitochondria in Pediatric Cardiovascular Diseases. José Marín-García M.D.,
Mitochondria and Their Role in Cardiovascular Disease, 2013, pp 245-270

Keywords: cardiac mitochondrial respiratory enzymes, dilated and hypertrophic cardiomyopathy, mitochondrial cardiomyopathy, neurological disorders, cardioneuropathies.

The molecular biology of Friedreich ataxia

JBC Podcasts: The molecular biology of Friedreich ataxia.

Interview of ELENA HIDALGO, Principal Investigator, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona, Spain

PLAY

Substantia Nigra Echogenicity in Friedreich’s Ataxia Patients

Substantia Nigra Echogenicity in Friedreich’s Ataxia Patients. María Sierra, Jon Infante,
José Berciano. The Cerebellum, December 2012.

Keeywords: substantia nigra (SN) hypoechogenicity, Friedreich’s ataxia (FRDA), restless syndrome (RLS).

[Late-onset Friedreich's ataxia with preservation of osteomuscular reflexes].

[Late-onset Friedreich's ataxia with preservation of osteomuscular reflexes]. Garcia-Estevez DA. Rev Neurol. 2012 Dec 16;55(12):765-7.

[Article in Spanish]

Autophagy induction extends lifespan and reduces lipids content in response to frataxin silencing in C. elegans

Autophagy induction extends lifespan and reduces lipids content in response to frataxin silencing in C. elegans.. Alfonso Schiavi, Alessandro Torgovnick, Alison Kell, Evgenia Megalou, Natascha Castelein, Ilaria Guccini, Laura Marzocchella, Sara Gelino, Malene Hansen, Florence Malisan, Ivano Condo’, Roberto Bei, Shane Rea, Bart P. Braeckman, Nektarios Tavernarakis, Roberto Testi, Natascia Ventura. Experimental Gerontology, Available online 13 December 2012; http://dx.doi.org/10.1016/j.exger.2012.12.002,

Keywords: aging, nematode, mitochondria, frataxin, p53/cep-1, autophagy, fat, lipid metabolism, Beclin, Friedreich ataxia.

Common data elements for clinical research in Friedreich's ataxia

Common data elements for clinical research in Friedreich's ataxia. David R. Lynch MD PhD, Massimo Pandolfo MD, Jorg B. Schulz MD, Susan Perlman MD, Martin B. Delatycki MD PhD, R. Mark Payne MD, Robert Shaddy MD, Kenneth H. Fischbeck MD, Jennifer Farmer MS, Paul Kantor MD, Subha V. Raman MD, Lisa Hunegs MSW MPH, Joanne Odenkirchen MPH, Kristy Miller MPH, Petra Kaufmann MD MSC. Movement Disorders; Article first published online: 12 DEC 2012 | DOI: 10.1002/mds.25201.

Keywords: cerebellum, dorsal root ganglion, mitochondrion, clinical measure, NINDS Common Data Elements.

Fifth Annual Friedreich’s Ataxia Symposium at The Children's Hospital of Philadelphia

The Fifth Annual Friedreich’s Ataxia Symposium was held on Oct. 8, 2012

Topics and presentations from previous Friedreich's Ataxia symposia.

Proyecto: "Cerebelo y Cognición: deterioro neuropsicológico en la Ataxia de Friedreich y su relación con la degeneración cerebelosa en imágenes de RM".

"Cerebelo y Cognición: deterioro neuropsicológico en la Ataxia de Friedreich y su relación con la degeneración cerebelosa en imágenes de RM".

NUEVA CONVOCATORIA DE LA UNIVERSIDAD DE LA LAGUNA PARA LA CONTRATACIÓN DE PERSONAL LABORAL TEMPORAL, MEDIANTE EL SISTEMA DE CONCURSO PÚBLICO, CON CARGO A VARIOS PROYECTOS DE INVESTIGACIÓN (CONVOCATORIA PUBLICADA EN B.O.C. Nº 240, DE 10 DE DICIEMBRE D 11/12/2012

Proyecto 2 (nº referencia: 2012_83):

Título del proyecto: "Cerebelo y Cognición: deterioro neuropsicológico en la Ataxia de Friedreich y su relación con la degeneración cerebelosa en imágenes de RM".

Departamento de destino: Dpto. de Psicobiología y Metodología de las Ciencias del Comportamiento. (Facultad de Psicología).

Nº de plazas: 1 plaza

Titulación académica requerida: Licenciado/a en Psicología.

Duración del contrato: 9 meses (prorrogable según disponibilidad presupuestaria).

Extranuclear Localization of SIRT1 and PGC-1α: An Insight into Possible Roles in Diseases Associated with Mitochondrial Dysfunction

Extranuclear Localization of SIRT1 and PGC-1α: An Insight into Possible Roles in Diseases Associated with Mitochondrial Dysfunction . Aquilano, K.; Baldelli, S.; Pagliei, B.; R. Ciriolo, M.; Current Molecular Medicine, Volume 13, Number 1, January 2013 , pp. 140-154(15). DOI: http://dx.doi.org/10.2174/156652413804486241

Keywords: Biogenesis, cellular metabolism, cytoplasm, mitochondria, mitochondrial diseases, transcriptional regulation, SIRT1, PGC-1α, neurodegenerative disorders, myopathies,Type II diabetes mellitus.

Effects of cytoprotective antioxidants on lymphocytes from representative mitochondrial neurodegenerative diseases

Effects of cytoprotective antioxidants on lymphocytes from representative mitochondrial neurodegenerative diseases. Ruth Goldschmidt, Pablo M. Arce, Omar M. Khdour, Valérie C. Collin, Sriloy Dey, Jennifer Jaruvangsanti, David M. Fash, Sidney M. Hecht; Bioorganic & Medicinal Chemistry, Available online 12 December 2012. http://dx.doi.org/10.1016/j.bmc.2012.11.051.

Keywords: Idebenone, Friedreich's Ataxia, Adenosine triphosphate, Mitochondrial dysfunction, Antioxidants, Reactive oxygen species, Electron transport chain.

Expanded complexity of unstable repeat diseases

Expanded complexity of unstable repeat diseases. Urszula Polak, Elizabeth McIvor, Sharon Y.R. Dent, Robert D. Wells and Marek Napierala. Article first published online: 11 DEC 2012 | DOI: 10.1002/biof.1060

Keywords: Unstable repeat diseases (URDs), neurological diseases, repeat instability.

Leading international researchers awarded fellowships in UK

Leading international researchers awarded fellowships in UK 6 Dec 2012

The fifth round of Newton International Fellowships has been awarded jointly by the UK’s national research academies – the British Academy and the Royal Society. Fellowships have been awarded to 41 successful applicants who be investigating topics ranging from the socio-economic impact on women in Ghanaian oil communities to boosting visual short-term memory. They come from research institutes in over 20 different countries including Thailand, Mexico, China and Australia.

Dr Matija Popovic, Croatia - Understanding the molecular basis of frataxin turn-over – hosted by National Institute for Medical Research

Transcriptional Regulation by Nuclear Corepressors and PGC-1α: Implications for Mitochondrial Quality Control and Insulin Sensitivity

Transcriptional Regulation by Nuclear Corepressors and PGC-1α: Implications for Mitochondrial Quality Control and Insulin Sensitivity; Zhengtang Qi and Shuzhe Ding, PPAR Research Volume 2012 (2012), Article ID 348245, 12 pages doi:10.1155/2012/348245

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Involvement of PGC-1α in the formation and maintenance of neuronal dendritic spines

Involvement of PGC-1α in the formation and maintenance of neuronal dendritic spines. Aiwu Cheng, Ruiqian Wan, Jenq-Lin Yang, Naomi Kamimura, Tae Gen Son, Xin Ouyang, Yongquan Luo, Eitan Okun & Mark P. Mattson. Nature Communications 3, Article number: 1250; doi:10.1038/ncomms2238

Keywords: synapses, neuronal circuits, peroxisome proliferator-activated receptor γ co-activator 1α, mitochondrial biogenesis, dendritic spines, hippocampal neurons, dendritic spines.

Dr Tremblay: Development of a potential therapy for Friedreich ataxia

Dr Tremblay: Development of a potential therapy for Friedreich ataxia (english)
04/12/2012 by Acaf Fondation Claude St-Jean

Iron binding activity is essential for the function of IscA in iron-sulphur cluster biogenesis

Iron binding activity is essential for the function of IscA in iron-sulphur cluster biogenesis; Aaron P. Landry , Zishuo Cheng and Huangen Ding; Dalton Trans., 2012, Accepted Manuscript. DOI: 10.1039/C2DT32000B

Keywords: Iron-sulphide cluster biogenesis, iron, sulphide, scaffold proteins, L-cysteine, cysteine desulfurases, IscA.

Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene.

Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene.Saccà F, Marsili A, Puorro G, Antenora A, Pane C, Tessa A, Scoppettuolo P, Nesti C, Brescia Morra V, De Michele G, Santorelli FM, Filla A; Journal of neurology : 2012 Nov 30

Keywords: Friedreich ataxia (FRDA), FXN gene, frataxin, point mutation, novel deletion in exon 5a (c.572delC).

Calorie Restriction and SIRT3 Trigger Global Reprogramming of the Mitochondrial Protein Acetylome

Calorie Restriction and SIRT3 Trigger Global Reprogramming of the Mitochondrial Protein Acetylome Alexander S. Hebert, Kristin E. Dittenhafer-Reed, Wei Yu, Derek J. Bailey, Ebru Selin Selen, Melissa D. Boersma, Joshua J. Carson, Marco Tonelli, Allison J. Balloon, Alan J. Higbee, Michael S. Westphall, David J. Pagliarini, Tomas A. Prolla, Fariba Assadi-Porter, Sushmita Roy, John M. Denu, Joshua J. Coon;Molecular Cell, Available online 29 November 2012

The author explain that frataxin, and other proteins involved in iron homeostasis are well-represented as major targets of SIRT3 deacetylation, and even say the level and the exact place the interaction in the protein.