The role of induced pluripotent stem cells in regenerative medicine: neurodegenerative diseases

Stem Cell Research & Therapy 2011, 2:32 doi:10.1186/scrt73, Published: 28 July 2011

Jun Peng and Xianmin Zeng

Keywords: Alzheimer's disease, Parkinson's disease, Huntington's disease, amyotrophic lateral sclerosis, Friedreich's ataxia, neurodegenerative diseases, no effective clinical therapies, human adult somatic cells, induced pluripotent stem cells (iPSCs), in vitro disease mechanism study, in vivo cell replacement therapy.

A pilot trial of deferiprone for neurodegeneration with brain iron accumulation.

Haematologica. 2011 Jul 26. [Epub ahead of print]

Abbruzzese G, Cossu G, Balocco M, Marchese R, Murgia D, Melis M, Galanello R, Barella S, Matta G, Ruffinengo U, Bonuccelli U, Forni GL.

(Clinicaltrials.gov identifier: NTC00907283.)

Keywords: Deferiprone, Friedreich's ataxia, cerebral iron accumulation, pantothenate kinase-associated neurodegeneration, parkinsonism and focal dystonia, Magnetic resonance imaging, neurological examinations, Chelation treatment.

RNA-mediated transcriptional gene silencing in Friedreich ataxia

Current Opinion in Biotechnology, Volume 22, Supplement 1, September 2011, Page S16, European Biotechnology Congress 2011

Sanjay Bidichandani, Angela Castro and Yogesh Chutake

Department of Biochemistry & Molecular Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA

You can find the abstract in the Strasbourg FARA conference summary.
http://www.curefa.org/_pdf/4thInternationalFAConferenceAbstracts.pdf

Assessment of neurological efficacy of idebenone in pediatric patients with Friedreich's ataxia: data from a 6-month controlled study followed by a 12-month open-label extension study.

J Neurol. 2011 Jul 22. [Epub ahead of print]

Meier T, Perlman SL, Rummey C, Coppard NJ, Lynch DR.
Santhera Pharmaceuticals, Liestal, Switzerland.

Keywords: idebenone, neurological function, ICARS, FARS, neurological rating scales, Friedreich's ataxia (FRDA), open-label extension study (IONIA-E), may offer a therapeutic benefit to pediatric FRDA patients.

A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia.

J Mol Cell Cardiol. 2011 Jul 12.

Kelly M, Bagnall RD, Peverill RE, Donelan L, Corben L, Delatycki MB, Semsarian C.
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, New South Wales, Australia.

Keywords:Friedreich ataxia (FRDA), expanded GAA trinucleotide repeat,frataxin gene (FXN), mitochondrial iron efflux, sensitivity to oxidative stress, variability in cardiac phenotype, genetic modifying factors, single nucleotide polymorphisms (SNPs), Renin-Angiotensin-Aldosterone system (RAAS), angiotensin-II type-1 receptor (AGTR1), angiotensin-converting enzyme (ACE), ACE2, left ventricular internal diameter in diastole (LVIDd), interventricular septal wall thickness (SWT), left ventricular mass (LVM), diastolic blood pressure, role of RAAS polymorphisms as modifiers of cardiac phenotype.

Structure-function analysis of Friedreich’s ataxia mutants reveals determinants for frataxin binding and activation of the Fe-S assembly complex

Biochemistry, Just Accepted Manuscript, DOI: 10.1021/bi200895k

Jennifer Bridwell-Rabb , Andrew M Winn , and David P. Barondeau

Keywords: Friedreich’s ataxia (FRDA), frataxin (FXN), GAA triplet repeat expansion, missense mutations, cysteine desulfurase, Fe-S cluster assembly activities, kcat/KM, NFS1, ISD11, ISCU2 (SDU), binding and allosteric activation of the Fe-S assembly complex.

Rim2, pyrimidine nucleotide exchanger, is needed for iron utilization in mitochondria

Biochem. J. (2011) Immediate Publication, doi:10.1042/BJ20111036

Heeyong Yoon, Yan Zhang, Jayashree Pain, Elise R. Lyver, Emmanuel Lesuisse, Debkumar Pain and Andrew Dancis
University of Pennsylvania, Philadelphia, U.S.A

Keywords: Mitochondria, iron, heme, Fe-S clusters, Mrs3, Mrs4, Yfh1, frataxin homolog, Rim2, mitochondrial carrier protein, pyrimidine exchange, promoting mitochondrial iron utilization.

Cardiac Dysfunction Causes Majority of Deaths in Friedreich's Ataxia

Original paper: Mortality in friedreich ataxia.

By: SHARON WORCESTER, Internal Medicine News Digital Network

Cardiac dysfunction remains the most common cause of death in patients with Friedreich’s ataxia, according to the findings of a retrospective study. read more

The Role of CyaY in Iron Sulfur Cluster Assembly on the E. coli IscU Scaffold Protein

PLoS ONE 6(7): e21992. doi:10.1371/journal.pone.0021992

OPEN ACCESS

Clara Iannuzzi1#, Salvatore Adinolfi1#, Barry D. Howes2#, Ricardo Garcia-Serres3#, Martin Clémancey4, Jean-Marc Latour5, Giulietta Smulevich2, Annalisa Pastore1

1 Medical Research Council National Institute for Medical Research, London, United Kingdom, 2 Dipartimento di Chimica “Ugo Schiff”, Università di Firenze, Sesto Fiorentino, Firenze, Italy, 3 Commissariat pour l'Energie Atomique, iRTSV/LCBM, Grenoble, France, 4 CNRS, UMR 5249, Grenoble, France, 5 Université Joseph Fourier, Grenoble, France

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Rapamycin reduces oxidative stress in frataxin deficient yeast cells

Mitochondrion, Article in Press, Accepted Manuscript, doi:10.1016/j.mito.2011.07.001

Carlo M.T. Marobbioa, 1, Isabella Pisanoa, 1, Vito Porcellia, Francesco M. Lasorsab and Luigi Palmieria, b.

a Laboratory of Biochemistry and Molecular Biology, Department of Pharmaco-Biology, University of Bari, Via E. Orabona 4, 70125 Bari, Italy
b CNR Institute of Biomembranes and Bioenergetics, Via Orabona 4, 70125 Bari, Italy

Keywords: Friedreich ataxia (FRDA), frataxin, mitochondria, antioxidant protection, mitochondrial damage, antioxidant idebenone, yeast frataxin knock-out model, iron accumulation, iron-sulphur cluster defects, high sensitivity to oxidative stress, reactive oxygen species (ROS), rapamycin, TOR kinases inhibitor, autophagy, mitophagy.

Long Range Regulation of Human FXN Gene Expression

PLoS ONE 6(7): e22001. doi:10.1371/journal.pone.0022001

Puspasari N, Rowley SM, Gordon L, Lockhart PJ, Ioannou PA, Delatycki MB, Sarsero JP
Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

OPEN ACCESS
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Neurodegeneration with brain iron accumulation - Clinical Syndromes And Neuroimaging -

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
Article in Press, doi:10.1016/j.bbadis.2011.06.016

Hyman M. Schipper,
Centre for Neurotranslational Research, Lady Davis Institute, Jewish General Hospital, Departments of Neurology & Neurosurgery and Medicine McGill University, Montreal, Quebec, Canada

Keywords: Iron, neurotoxic reactive oxygen species, body iron homeostasis, neurodegeneration with brain iron accumulation (NBIA), clinical syndromes and neuroimaging, magnetic resonance scanning, Friedreich ataxia (FA), pantothenate kinase 2-associated neurodegeneration (PKAN), PLA2G6-associated neurodegeneration (PLAN), FA2H-associated neurodegeneration (FAHN), Kufor-Rakeb disease (KRD), aceruloplasminemia, neuroferritinopathy.

Disabilità e terapia occupazionale nei pazienti con atassia di Friedreich

G Ital Med Lav Erg 2011; 33:2, 201-204

Irene Ciancarelli1,2, Vincenza Cofini1, Antonio Carolei3
1 Dipartimento di Medicina Interna e Sanità Pubblica - Università degli Studi di L’Aquila
2 Casa di cura di Riabilitazione Nova Salus - Trasacco
3 Clinica Neurologica - Dipartimento di Medicina Interna e Sanità Pubblica - Università degli Studi di L’Aquila

Keywords: Friedreich ataxia, occupational therapy, neuromotor
rehabilitation.

Overexpression of Human and Fly Frataxins in Drosophila Provokes Deleterious Effects at Biochemical, Physiological and Developmental Levels

PLoS ONE 6(7): e21017. doi:10.1371/journal.pone.0021017

OPEN ACCESS

Juan A. Navarro1#, José V. Llorens2,3#*, Sirena Soriano2, José A. Botella1, Stephan Schneuwly1, María J. Martínez-Sebastián2, María D. Moltó2,4

1 Institute of Zoology, University of Regensburg, Regensburg, Germany, 2 Departament de Genètica, Universitat de València, Burjassot, Valencia, Spain, 3 Instituto de Biomedicina, CSIC, Valencia, Spain, 4 CIBERSAM (Centro de Investigación Biomédica en Red de Salud Mental), Madrid, Spain

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Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich’s ataxia

Nucl. Acids Res. (2011) doi: 10.1093/nar/gkr542 First published online: July 10, 2011

Eunah Kim1,2, Marek Napierala1,2,* and Sharon Y. R. Dent1,2,*
1The Department of Molecular Carcinogenesis, University of Texas MD Anderson Cancer Center Science Park, Smithville, Texas 78957 and 2The Genes and Development Program, Graduate School of Biomedical Sciences and the Center for Cancer Epigenetics, University of Texas MD Anderson Cancer Center, Houston, Texas 77030, USA

Keywords: Friedreich’s ataxia (FRDA), biallelic expansion of GAA repeats, frataxin (FXN) gene, chromatin modifications, chromatin immunoprecipitation, quantitative PCR, histone modifications, block of transition from initiation to a productive elongation.


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Update on degenerative ataxias.

Curr Opin Neurol. 2011 Aug;24(4):339-45.

Klockgether T.
Department of Neurology, University Hospital Bonn and German Center for Neurodegenerative Disorders (DZNE), Bonn, Germany.

Keywords: Degenerative ataxias, acquired ataxias, hereditary ataxias, nonhereditary degenerative ataxias, molecular genetic analysis, imaging studies, clinical assessment methods.

The Frataxin Homologue Fra Plays a Key Role in Intracellular Iron Channeling in Bacillus subtilis

ChemBioChem, 12: n/a. doi: 10.1002/cbic.201100190
Albrecht, A. G., Landmann, H., Nette, D., Burghaus, O., Peuckert, F., Seubert, A., Miethke, M. and Marahiel, M. A. (2011),

Keywords: Bacillus subtilis, frataxin, iron, metalloproteins, metalloproteomics

The Potential Investment Impact of Improved Access to Accelerated Approval on the Development of Treatments for Low Prevalence Rare Diseases

Orphanet Journal of Rare Diseases 2011, 6:49 (6 July 2011)

Miyamoto BE, Kakkis ED

OPEN ACCESS

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Accelerating access to treatments for rare diseases

Nature Reviews Drug Discovery 10, 475-476 (July 2011) | doi:10.1038/nrd3493
Marc Dunoyer

Changes in regulatory policy and legislative incentives to promote the development of drugs for rare diseases — orphan drugs — have led to increases in the number of orphan drug designations, but the rate of such products reaching the market remains frustratingly flat. This article highlights areas in which novel approaches could facilitate regulatory approval and access to treatments for rare diseases.

Gait Pattern in Inherited Cerebellar Ataxias.

Cerebellum. 2011 Jun 30. [Epub ahead of print]

Serrao M, Pierelli F, Ranavolo A, Draicchio F, Conte C, Don R, Di Fabio R, Lerose M, Padua L, Sandrini G, Casali C.
Department of Medical and Surgical Science and Biotechnologies, Sapienza University of Rome

Keywords: features of gait, ataxias, autosomal dominant (spinocerebellar ataxia, SCA1 or 2), recessive (Friedreich's ataxia, FRDA) ataxia, motion analysis system, gait kinematic, kinetic data, International Cooperative Ataxia Rating Scale (ICARS).