Frataxin participates to the hypoxia-induced response in tumors

Cell Death and Disease (2011) 2, e123; doi:10.1038/cddis.2011.5

Guccini I, Serio D, Condò I, Rufini A, Tomassini B, Mangiola A, Maira G, Anile C, Fina D, Pallone F, Mongiardi MP, Levi A, Ventura N, Testi R, Malisan F

Keywords: frataxin, Friedreich's ataxia, oxidative stress, apoptosis, tumor suppressor, stress resistance, tumor cells, response to hypoxic stress, hypoxia-inducible factors (HIF), tumor-suppressor p53.

"frataxin is in fact increased in human tumors in vivo"
"Frataxin upregulation in response to hypoxia is dependent on hypoxia-inducible factors expression"

Cardiomyopathy of Friedreich's Ataxia: Use of Mouse Models to Understand Human Disease and Guide Therapeutic Development.

Pediatr Cardiol. 2011 Mar 1. [Epub ahead of print]

Payne RM, Pride PM, Babbey CM.

Riley Heart Research Center, Wells Center for Pediatric Research, Indiana University School of Medicine, 1044 West Walnut, R4302, Indianapolis, IN, 46202, USA

Keywords: Friedreich's ataxia, heart, brain, severe cardiomyopathy, heart failure, frataxin, Animal models, to develop new therapeutic strategies.

Brain diffusion-weighted imaging in Friedreich's ataxia

Mov Disord. 2011 Mar 2. doi: 10.1002/mds.23518.

Rizzo G, Tonon C, Valentino ML, Manners D, Fortuna F, Gellera C, Pini A, Ghezzo A, Baruzzi A, Testa C, Malucelli E, Barbiroli B, Carelli V, Lodi R.

MR Spectroscopy Unit, Department of Internal Medicine, Aging and Nephrology, University of Bologna, Bologna, Italy; Department of Neurological Sciences, University of Bologna, Bologna, Italy.

"The extent of neurodegeneration in FRDA appears more extended than previously reported."

Keywords: Friedreich ataxia (FRDA), brain damage in FRDA, in vivo markers of neurodegeneration, diffusion-weighted imaging (DWI), Axial DW images, mean diffusivity (MD) maps, medulla, pons, inferior, middle and superior cerebellar peduncles (ICP, SCP, MCP), dentate nucleus, cerebellar white matter, thalamus, caudate, putamen, pallidus, pyramidal tracts at level of posterior limb of internal capsule (PLIC), optic radiations (OR), and corpus callosum, Histograms of MD, International Cooperative Ataxia Rating Scale (ICARS).

Impaired inhibition of prepotent motor tendencies in Friedreich ataxia demonstrated by the Simon interference task.

Brain Cogn. 2011 Feb 25

Corben LA, Akhlaghi H, Georgiou-Karistianis N, Bradshaw JL, Egan GF, Storey E, Churchyard AJ, Delatycki MB.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia; Experimental Neuropsychology Research Unit, School of Psychology and Psychiatry, Monash University, Clayton 3800, Victoria, Australia.

KEYWORDS: Friedreich ataxia (FRDA), impairment in motor planning, cerebral cortex and/or cerebello-cortical projections, Simon interference task.

Human Basal Ganglia and the Dynamic Control of Force during On-Line Corrections

The Journal of Neuroscience, February 2, 2011, 31(5):1600-1605; doi:10.1523/JNEUROSCI.3301-10.2011

Scott T. Grafton1 and Eugene Tunik2

1Sage Center for the Study of Mind, Department of Psychology, University of California, Santa Barbara, California 93106, and 2Department of Rehabilitation and Movement Science, University of Medicine and Dentistry of New Jersey, Newark, New Jersey 07107

Keywords: Natural movements, submovements, basal ganglia, force amplitude, change, and duration, proprioceptive error, globus pallidus, subthalamic nucleus.

Mitochondrial Mayhem: The Mitochondrion as a Modulator of Iron Metabolism and its Role in Disease

Antioxidants & Redox Signaling. Online Ahead of Editing: February 27, 2011. doi:10.1089/ars.2011.3921.

Michael Li-Hsuan Huang, Darius John Rowland Lane, Des R. Richardson.
University of Sydney, Pathology, Sydney, New South Wales, Australia.

Keywords: mitochondrion, iron metabolism, mitochondrial ferritin, mitoferrins 1 and 2, ABCBs 6,7 and 10, frataxin, iron storage, iron uptake, heme and iron–sulfur cluster synthesis, regulation of whole cell iron metabolism.

The Minimal Proteome in the Reduced Mitochondrion of the Parasitic Protist Giardia intestinalis

Frataxin is always present in all eukaryotes, it seems essential to life, surprisingly in this paper describes an organism that lacks frataxin, perhaps a more detailed study of this protist would give clues to understand the frataxin function, and help to understand their relationship with the Fe-S clusters.



PLoS ONE 6(2): e17285. doi:10.1371/journal.pone.0017285

Petr L. Jedelský1,2, Pavel Doležal1, Petr Rada1, Jan Pyrih1, Ondřej Šmíd1, Ivan Hrdý1, Miroslava Šedinová1, Michaela Marcinčiková1, Lubomír Voleman1, Andrew J. Perry3, Neritza Campo Beltrán1, Trevor Lithgow3, Jan Tachezy1*

1 Department of Parasitology, Faculty of Science, Charles University in Prague, Prague, Czech Republic, 2 Laboratory of Mass Spectrometry, Faculty of Science, Charles University in Prague, Prague, Czech Republic, 3 Department of Biochemistry & Molecular Biology, Monash University, Clayton Campus, Melbourne, Australia


A striking deviation from other eukaryotes is the absence of frataxin in Giardia mitosomes. Frataxin is invariably present in eukaryotes that contain the ISC-type FeS cluster assembly machinery.

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Lu AA24493 - Expected report data of clinical phase II

Lu AA24493 (novel carbamoylated form of human erythropoietin (EPO)) is in clinical phase II in the treatment of Friedreich's ataxia and in clinical phase I in the treatment of acute ischaemic stroke. Ongoing studies in both programmes are expected to report data in the first half of 2011.

Regulation of cellular iron metabolism

Biochem. J. (2011) 434 (365–381)

Jian Wang*† and Kostas Pantopoulos*†‡1
*Department of Biochemistry, University of Texas Southwestern Medical Center, U.S.A. †Lady Davis Institute for Medical Research, Sir Mortimer B. Davis Jewish General Hospital, Canada.
‡Department of Medicine, McGill University, Canada

Keywords: frataxin, ferritin, ferroportin, iron-regulatory protein 1 (IRP1), iron-regulatory protein 2 (IRP2), iron–sulfur cluster (ISC), transferrin receptor (TfR).

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Patient Reported Outcomes in Friedreich's Ataxia Patients After Withdrawal From Treatment With Idebenone (PROTI)

First Received: February 22, 2011 Last Updated: February 23, 2011

Sponsor: Santhera Pharmaceuticals
Information provided by: Santhera Pharmaceuticals
ClinicalTrials.gov Identifier: NCT01303406

Locations: United Kingdom, The National Hospital, University College London

Principal Investigator: Paola Giunti, M.D, Institute of Neurology, The National Hospital, University College London