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

The potential application of iron chelators for the treatment of neurodegenerative diseases.

Metallomics. 2011 Feb 22. [Epub ahead of print]

Hider RC, Roy S, Ma YM, Le Kong X, Preston J.

King's College London, Institute of Pharmaceutical Science, London

Keywords: neurodegenerative disease, Alzheimer's disease, Parkinson's disease, Friedreich's ataxia, Hallervorden Spatz syndrome and macular degeneration, redox active metals, copper, iron, selective chelation.

International Study Shows That Reprogramming Cells Leads To Genomic Aberrations

Medical News Today, Article Date: 22 Feb 2011

"It's a discordant note in the symphony of good news that usually accompanies stem cell research announcements."

"The scientists draw the conclusion that reprogrammed stem cells need to be extensively investigated before they can even be considered for use in regenerative medicine."

Read more ...

First Trial To Compare Autologous Cells With Donor Cells For Dilated Cardiomyopathy

Medical News Today, Article Date: 22 Feb 2011

"complement of trials being offered at UHealth broadens the availability of experimental therapy to patients and offers an alternative to the growing trend of medical tourism for cell based therapies." (University of Miami Miller School of Medicine) Read more ...

Neuronal Activity Controls the Antagonistic Balance Between Peroxisome Proliferator-Activated Receptor-γ Coactivator-1α and Silencing Mediator of Retinoic Acid and Thyroid Hormone Receptors in Regulating Antioxidant Defenses

Antioxidants & Redox Signaling (14, 000–000). -Online Ahead of Print: February 20, 2011-. doi:10.1089/ars.2010.3568.

Francesc X. Soriano, Frédéric Léveillé, Sofia Papadia, Karen F.S. Bell, Clare Puddifoot, Giles E. Hardingham.

Centre for Integrative Physiology, University of Edinburgh

Keywords: Transcriptional coactivators and corepressors, multiple targets, coactivator peroxisome proliferator-activated receptor-γ coactivator (PGC)-1α, Huntington's, antioxidant defenses, mitochondrial biogenesis, retinoic acid and thyroid hormone receptors (SMRT), implications for neuronal viability.

Transition to adult care for children with chronic neurological disorders

Annals of Neurology, 2011, DOI: 10.1002/ana.22393

Peter Camfield MD, Carol Camfield MD

"We make a series of suggestions about how to improve the transition/transfer process with the hope of better medical and social adult outcome for children with neurological disorders."

Quantification of Circulating Plasma DNA in Friedreich's Ataxia and Spinocerebellar Ataxia Types 2 and 12

DNA and Cell Biology. null, Vol. 0, No. 0, Online Ahead of Print: February 17, 2011. doi:10.1089/dna.2010.1165.

Vishnu Swarup, Achal K. Srivastava, Madakasira V. Padma, Moganty R. Rajeswari.
Department of Biochemistry, All India Institute of Medical Sciences, New Delhi, India.
Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.

Keywords: DNA triplet repeat expansion, Friedreich's ataxia, spinocerebellar ataxias (SCAs), multisystem neurodegenerative disorders, Cell-free circulating DNA in plasma, clinical diagnosis, International Co-operative Ataxia Rating Scale, plasma DNA, PicoGreen fluorescent assay, neuronal and muscular degeneration.

Friedreich's ataxia: Pathology, pathogenesis, and molecular genetics

Journal of the Neurological Sciences, doi:10.1016/j.jns.2011.01.010

Arnulf H. Koeppen

VA Medical Center, 113 Holland Ave, and Albany Medical College, 47 New Scotland Ave, Albany, NY 12208 USA, Available online 10 February 2011.

Keywords: Cardiomyopathy; Dentate nucleus; Dorsal root ganglion; Frataxin; Friedreich's ataxia; GAA trinucleotide repeats; Iron; Transcription

Gene therapy finds its niche

Nature Biotechnology Volume: 29, Pages: 121–128 Year published:(2011)
doi:10.1038/nbt.1769

Cormac Sheridan

Gene therapy is finally poised to make a contribution to the treatment of debilitating, highly penetrant genetic diseases that have proved intractable to other regimens.

ReNeuron and StemCells get green light for neural stem cell trials

Nature Biotechnology Volume: 29,Pages: 95–97 Year published:(2011) doi:10.1038/nbt0211-95

George S Mack

Maybe not as fast as we would like, but progress is being made in stem cell therapies for neurological diseases.

Gene Therapy Moves Forward in 2010

Molecular Therapy (2011) 19 2, 219–220. doi:10.1038/mt.2010.307

Seppo Ylä-Herttuala
Deputy Editor, and President (2011–2012), European Society of Gene and Cell Therapy


Good summary of recent advances in gene therapy, lists of the most important achievements in this field of knowledge over the past year and shows the growing interest of pharmaceutical companies in hereditary diseases, including many rare diseases.

(WO/2011/009890) USE OF AZABICYCLOALKYL DERIVATIVES OR PYRROLIDINE-2-ONE DERIVATIVES

Patent WO/2011/009890, 27.01.2011,

Aplicants: NOVARTIS AG [CH/CH]; FEUERBACH, Dominik [DE/CH]; GOMEZ-MANCILLA, Baltazar [MX/CH].

The invention concerns the use of azabicydoalkyl derivatives or pyrroiidine-2-one derivatives for the treatment, prevention or delay of progression of ataxia.

"FA, is one of the types of ataxia for which the applicants assume that this drug can be useful"

"Proof of principle", Gene therapy by allele selection in a mouse model of beta-thalassemia

J Clin Invest. 2011;121(2):623–627. doi:10.1172/JCI45377.(February 1, 2011).

Sigrid Eckardt1, N. Adrian Leu2, Ashley Yanchik2, Seigo Hatada3, Michael Kyba4 and K. John McLaughlin1,5

1Center for Molecular and Human Genetics, The Research Institute at Nationwide Children’s Hospital, Columbus, Ohio, USA.
2University of Pennsylvania School of Veterinary Medicine, Philadelphia, Pennsylvania, USA.
3Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, North Carolina, USA.
4Lillehei Heart Institute and Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.
5Department of Pediatrics, College of Medicine, The Ohio State University, Columbus, Ohio, USA.

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"genetic correction strategy without gene targeting"

"In the case of recessive diseases, MHC-homozygous, disease-free PG ES cells derived from donated oocytes from a heterozygous mother may also generate useful pluripotent cells for treatment in their affected offspring."

Johns Hopkins Researchers Develop Safer Way To Make Induced Pluripotent Stem Cells

Stem Cell Research News From Medical News Today, Article Date: 01 Feb 2011 - 4:00 PST

Researchers at Johns Hopkins have found a better way to create induced pluripotent stem (iPS) cells-adult cells reprogrammed with the properties of embryonic stem cells-from a small blood sample. This new method, described last week in Cell Research, avoids creating DNA changes that could lead to tumor formation. read more....