The mitochondrial protein frataxin is essential for heme biosynthesis in plants

FEBS Journal, Accepted Article (Accepted, unedited articles published online for future issues)
DOI: 10.1111/j.1742-4658.2010.07968.x

María V. Maliandi1, Maria V. Busi2, Valeria R. Turowski2, Laura Leaden2, Alejandro Araya3, Diego F. Gomez-Casati2.

# 1 Instituto de Investigaciones Biotecnológicas-Instituto Tecnológico de Chascomús (IIB-INTECH) CONICET/UNSAM, Chascomús, Argentina.# 2 Centro de Estudios Fotosintéticos y Bioquímicos (CEFOBI-CONICET), Universidad Nacional de Rosario, Rosario, Argentina. # 3 Microbiologie Cellulaire et Moléculaire et Pathogénicité.Centre National de la Recherche Scientifique and Université Victor Segalen-Bordeaux 2, Bordeaux, France.

Keywords: Frataxin, mitochondrial protein, cellular iron homeostasis, Fe–S cluster, heme biosynthesis, photosynthetic organisms, aconitase, succinate dehydrogenase, AtFH. heme content.

Superior Cerebellar Peduncle Atrophy in Friedreich's Ataxia Correlates with Disease Symptoms.

Cerebellum. 2010 Nov 24.

Akhlaghi H, Corben L, Georgiou-Karistianis N, Bradshaw J, Storey E, Delatycki MB, Egan GF.
Florey Neurosciences Institute, Centre for Neurosciences, University of Melbourne, Parkville, VIC, Australia

KEYWORDS: Friedreich's ataxia (FRDA), cerebellar-sensory ataxia, peripheral sensory loss, loss of lower limb tendon reflexes, hypertrophic cardiomyopathy, superior cerebellar peduncle (SCP), Friedreich's ataxia rating scale score, surrogate marker of disease severity in FRDA.

Feasibility of Implantable Cardioverter Defibrillator Treatment in Five Patients With Familial Friedreich's Ataxia—A Case Series

Artificial Organs, Volume 34, Issue 11, pages 1061–1065, November 2010, DOI: 10.1111/j.1525-1594.2010.01140.x

Keywords: Friedreich's ataxia (FRA), familial cardiomyopathy, the most common cause of death, implantable cardioverter defibrillator (ICD), University Hospital of Goettingen, frataxin locus, electrocardiogram, ventricular dysfunction, ventricular tachyarrhythmias.

"Our experience implies the safe use of ICD in children with FRA"

The future of genetic research on neurodegeneration

Nature Medicine 16, 1215 - 1217 (2010), doi:10.1038/nm.2225


Christine Van Broeckhoven is at the Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium, and the Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium.

Les ataxies cérébelleuses autosomiques récessives

Original article in French, abstract in English Autosomal recessive cerebellar ataxias

Revue Neurologique, Article in Press, Corrected Proof
doi:10.1016/j.neurol.2010.07.021

M. Anheim, Service de neurogénétique, hôpital de la Pitié-Salpêtrière, Paris, France, Centre de référence des maladies neurogénétiques de l’enfant et de l’adulte, Paris, France, Unité Inserm UMR_S975 CRICM, hôpital de la Pitié-Salpêtrière, Paris, France

Keywords: Ataxia; Cerebellum; Autosomal recessive; Oculomotor apraxia; Peripheral neuropathy; Friedreich's ataxia

METHODS OF IDENTIFYING HISTONE DEACETYLASE INHIBITORS USEFUL FOR NEUROLOGICAL DISORDERS

United States Patent Application 20100285476

Inventors:Rusche, James R. (Senior Vice President of Research & Development, Repligen Corporation)
Cooper, Andrew (Senior Research Scientist at Repligen Corporation)

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Activation of mitochondrial energy metabolism protects against cardiac failure.

Aging (Albany NY). 2010 Nov 16.

Schulz TJ, Westermann D, Isken F, Voigt A, Laube B, Thierbach R, Kuhlow D, Zurse K, Schomburg L, Pfeiffer AF, Tschöpe C, Ristow M.
Department of Human Nutrition, Institute of Nutrition, University of Jena, Germany.

Keywords: Cardiac failure, impaired energy homeostasis in the heart, Mitochondrial metabolism, over-expressing the mitochondrial protein frataxin, iron-sulfur-cluster biogenesis, mitochondrial electron flux, stress defense mechanisms, cardiomyopathy, insulin/IGF-1 signaling cascade, protein kinase B, Akt, glycogen synthase kinase 3.

The Test of Everyday Attention Reveals Significant Sustained Volitional Attention and Working Memory Deficits in Friedreich Ataxia.

J Int Neuropsychol Soc. 2010 Nov 17:1-5. [Epub ahead of print]

Klopper F, Delatycki MB, Corben LA, Bradshaw JL, Rance G, Georgiou-Karistianis N.
Experimental Neuropsychology Research Unit, School of Psychology and Psychiatry, Monash University, Clayton, Victoria, Australia.

Keywords: Sustained volitional attention, working memory capacity, Friedreich ataxia (FRDA), Test of Everyday Attention, IQ-matched controls, GAA repeat number, FXN gene, disease severity, corticocerebellar pathways, cortical and/or cerebellar pathology.

Development and assessment of selective mitochondrion-targeted iron chelators for the study of the neurological disorder Friedrich’s Ataxia

Department of Pharmacy & Pharmacology, University of Bath

NEW PROJECT

"we will investigate the conjugation of a variety of clinical strong iron chelator molecules to cell-penetrating and mitochondria-targeting peptide sequences, to create highly specific cell-permeable metal chelators"

Development of Biomarkers for HDAC Inhibitor Treatment of Friedreich's Ataxia

AAN 2010 - American Academy of Neurology

Massimo Pandolfo, Brussels, Belgium, Heather Plasterer, Waltham, MA, Myriam Rai, Brussels, Belgium, Sushil Sharma, Carly Therkelsen, Andrew Cooper, Waltham, MA, Jennifer Farmer, David Lynch, Philadelphia, PA, James Rusche, Waltham, MA

Effects of Erythropoietin on Endothelial Progenitor Cells, Frataxin Levels and Oxidative Metabolism in the Skeletal Muscle of Friedreich Ataxia Patients

AAN 2010 - American Academy of Neurology?

Wolfgang Nachbauer, Julia Wanschitz, Markus Reindl, Innsbruck, Austria, Barbara Scheiber-Mojdehkar, Vienna, Austria, Werner Poewe, Sylvia Boesch, Innsbruck, Austria

STATegics, Inc. Announces Award from the Department of Defense to Advance Proprietary Small Molecule Mimetics of Erythropoietin for the Treatment of Traumatic Brain Injury

SUNNYVALE, Calif., Nov. 16, 2010 (GLOBE NEWSWIRE)
STATegics' programs have been supported by grants from the National Institute of Neurological Disorders and Stroke (NINDS), Friedreich's Ataxia Research Alliance (FARA) and the U.S. Government's Qualifying Therapeutic Discovery Project (QTDP) program.

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The lead indication for the erythropoietin mimetics is Friedreich's ataxia,
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Whole-body vibration alters blood flow velocity and neuromuscular activity in Friedreich’s ataxia

Clinical Physiology and Functional Imaging, no. doi: 10.1111/j.1475-097X.2010.00992.x
Herrero, A. J., Martín, J., Martín, T., García-López, D., Garatachea, N., Jiménez, B. and Marín, P. J.

Keywords: Doppler ultrasound, electromyography, oscillating platform, rate of perceived exertion, rehabilitation, vibration frequency.

Re-Engineering Erythropoietin as an IgG Fusion Protein That Penetrates the Blood−Brain Barrier in the Mouse

Mol. Pharmaceutics, Article ASAP, DOI: 10.1021/mp1001763

 

Qing-Hui Zhou^†, Ruben J. Boado^†‡, Jeff Zhiqiang Lu^‡, Eric Ka-Wai Hui^‡, and William M. Pardridge*^†

Department of Medicine, UCLA, Los Angeles, California 90024, United States, and ArmaGen Technologies, Inc., Santa Monica, California 90401, United States

 

Keywords: drug targeting; drug delivery; Erythropoietin (EPO),  neuroprotective agent,  blood−brain barrier (BBB), chimeric monoclonal antibody (mAb),  transferrin receptor (TfR),  cTfRMAb-EPO, fusion protein,  IgG fusion protein,

 

DockAnalyse: an application for the analysis of protein-protein interactions

BMC Structural Biology 2010, 10:37doi:10.1186/1472-6807-10-37

Isaac Amela , Pedro Delicado , Antonio Gomez , Silvia Bonas , Enrique Querol and Juan Cedano

Institut de Biotecnologia i de Biomedicina Parc de Recerca UAB and Departament de Bioquímica i Biologia Molecular, Universitat Autònoma de Barcelona. 08193-Bellaterra, Barcelona, Spain
Departament d’Estadística i Investigació Operativa, Universitat Politècnica de Catalunya. 08034-Barcelona, Spain.

OPEN ACCESS

.../...

Most of the studies prompt the suggestion that the iron and sulfur atoms required for the ISC biogenesis on Isu1/Isu2 are donated by other proteins, named Frataxin and Nfs1 [20]. This ISC biogenesis machinery is not yet well understood and problems in it cause several human diseases linked to protein/enzyme deficits.

.../...


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Iron-Sulfur Clusters: Biogenesis, Molecular Mechanisms and Their Functional Significance

Iron-Sulfur Clusters: Biogenesis, Molecular Mechanisms and Their Functional Significance

Xiang Ming Xu, Simon Geir Møller. Antioxidants & Redox Signaling. -Not available-, ahead of print. doi:10.1089/ars.2010.3259.

Keywords:Iron-sulfur clusters [Fe-S], inorganic cofactors, regulation of enzyme activity, mitochondrial respiration, ribosome biogenesis, cofactor biogenesis, gene expression regulation, nucleotide metabolism, mitochondria, human diseases.

Spectral measures of the effects of Friedreich's ataxia on speech.

Int J Speech Lang Pathol. 2010 Nov 9. [Epub ahead of print]

Rosen KM, Folker JE, Murdoch BE, Vogel AP, Cahill LM, Delatycki MB, Corben LA.
The University of Queensland, Brisbane, Australia.

Keywords:Friedreich's ataxia (FRDA), speech motor control, dysarthria, ,speaking task, spectral variation.

Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit†

Saccà, F., Piro, R., De Michele, G., Acquaviva, F., Antenora, A., Carlomagno, G., Cocozza, S., Denaro, A., Guacci, A., Marsili, A., Perrotta, G., Puorro, G., Cittadini, A. and Filla, A. , Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit. Movement Disorders, n/a. doi: 10.1002/mds.23435

Tags: efficacy, safety, and tolerability, two single doses of Epoetin alfa, Friedreich's ataxia, subcutaneously, frataxin, did not affect hematocrit, cardiac function, and neurological scale, phlebotomy, lack of erythropoietic effect.

The benefits and limitations of animal models for translational research in neurodegenerative diseases

Nature Medicine 16, 1210 - 1214 (2010), doi:10.1038/nm.2224

Mathias Jucker is at the Department of Cellular Neurology, Hertie Institute for Clinical Brain Research, University of Tübingen, and the DZNE-German Center for Neurodegenerative Diseases, Tübingen, Germany.

The Herrenhausen Symposium on Neurodegeneration

Nature Medicine 16, 1200 (2010), Published online: 4 November 2010 | doi:10.1038/nm1110-1200

Although the pathological hallmarks of neurodegenerative diseases have been described for over 100 years, our understanding of the molecular events leading to neuronal death has emerged over the past two decades. Despite all of this progress in basic research, why do we still lack disease-modifying therapeutics?

Use of botulinum toxin in the neurology clinic

Nature Reviews Neurology 6, 624-636 (November 2010) | doi:10.1038/nrneurol.2010.149

Erle C. H. Lim & Raymond C. S. Seet

Keywords: Botulinum neurotoxin (BoNT), Electromyography, endoscopy, imaging techniques, ultrasonography, fluoroscopy, mechanisms of action, neurological conditions, dystonia, spasticity, headaches,painful disorders, hemifacial spasm, essential tremor, motor tics, hyperhidrosis, sialorrhea, dosing, and methods of administration.

Differentiating Impairment Levels in Temporal Versus Spatial Aspects of Linguopalatal Contacts in Friedreich's Ataxia.

Motor Control. 2010 Oct;14(4):490-508.

Folker JE, Murdoch BE, Cahill LM, Rosen KM, Delatycki MB, Corben LA, Vogel AP.

School of Health and Rehabilitation Sciences, The University of Queensland, St Lucia, Qld,
Australia.

Keywords; Electropalatography (EPG), pattern of linguopalatal contact, consonant phase durations, dysarthria, Friedreich's ataxia (FRDA), articulatory impairment in FRDA.

Getting to the Core of Repeat Expansions by Cell Reprogramming

Cell Stem Cell, Volume 7, Issue 5, 545-546, 5 November 2010, doi:10.1016/j.stem.2010.10.005.

Sergei M. Mirkin

Keywords: iPSCS, Friedreich's ataxia, (GAA)n repeat, repeat instability, epigenetic signature.

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Scripps Research team implicates wayward DNA-repair enzyme in Friedreich's ataxia

Easy to understand explanation of this recently published paper

Friedreich's Ataxia Induced Pluripotent Stem Cells Model Intergenerational GAA⋅TTC Triplet Repeat Instability.

Various sources:

http://www.physorg.com/news/2010-11-implicate-wayward-dna-repair-enzyme-friedreich.html

http://www.sciencecodex.com/scripps_research_team_implicates_wayward_dnarepair_enzyme_in_friedreichs_ataxia

TRPing up the genome: tandem repeat polymorphisms as dynamic sources of genetic variability in health and disease.

Discov Med. 2010 Oct;10(53):314-21.

Hannan AJ.
Howard Florey Institute, Florey Neuroscience Institutes and Department of Anatomy and Cell Biology, University of Melbourne, Melbourne, Victoria 3010, Australia

Keyword: Repetitive DNA sequences, tandem repeat polymorphisms (TRPs), genomic variability, post-mitotic instability, neuronal function and dysfunction, single nucleotide polymorphisms (SNPs), monogenic disorders, Huntington's disease, spinocerebellar ataxias, polyglutamine diseases, Friedreich ataxia, fragile X syndrome, myoclonic epilepsy, polyalanine disorders, myotonic dystrophy. "missing heritability".

Friedreich's Ataxia Induced Pluripotent Stem Cells Model Intergenerational GAA⋅TTC Triplet Repeat Instability.

Cell Stem Cell. 2010 Nov 5;7(5):631-7.

Ku S, Soragni E, Campau E, Thomas EA, Altun G, Laurent LC, Loring JF, Napierala M, Gottesfeld JM.

Department of Molecular Biology, The Scripps Research Institute, 10550 N. Torrey Pines Road, La Jolla, CA 92037, USA.

Keywords: Friedreich's ataxia (FRDA), GAA⋅TTC triplet repeat, frataxin, heterochromatin-mediated gene silencing, induced pluripotent stem cells (iPSCs), fibroblasts, repeat instability, repair enzyme MSH2, shRNA silencing of MSH2.