Atypical, perhaps under-recognized? An unusual phenotype of Friedreich ataxia

Neurogenetics, 10.1007/s10048-009-0233-x

Beate Diehl1, Michael S. Lee2, Janet R. Reid3, Craig D. Nielsen4 and Marvin R. Natowicz5, 6 Contact Information
(1) National Hospital for Neurology and Neurosurgery, London, UK
(2) Department of Ophthalmology, University of Minnesota, Minneapolis, MN, USA
(3) Radiology Institute, Cleveland Clinic, Cleveland, OH, USA
(4) Medicine Institute, Cleveland Clinic, Cleveland, OH, USA
(5) Genomic Medicine Institute, NE-5 Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA
(6) Institutes of Pathology and Laboratory Medicine, Neurology and Pediatrics, Cleveland Clinic, Cleveland, OH, USA

Received: 3 August 2009 Accepted: 29 December 2009 Published online: 17 February 2010

Keywords Atypical Friedreich ataxia - Variant Friedreich ataxia - Frataxin - Mitochondrial - Optic atrophy

FRIEDREICH'S ATAXIA: MOLECULAR MECHANISMS, REDOX CONSIDERATIONS AND THERAPEUTIC OPPORTUNITIES

Antioxid Redox Signal. 2010 Feb 16.

Santos R, Lefevre S, Sliwa D, Seguin A, Camadro JM, Lesuisse E.
Institut Jacques Monod, Mitochondria, Metals and Oxidative Stress Laboratory, Bât.Buffon, 15 rue Hélène Brion, Paris, France, 75013, +331 57 27 80 28, +331 57 27 81 01; santos.renata@ijm.univ-paris-diderot.fr.

Keywords: Mitochondrial dysfunction, oxidative damage, neurodegenerative diseases,  Alzheimer's,  Parkinson's,  Friedreich's ataxia (FRDA),  GAA trinucleotide repeat expansion, FXN,  frataxin,  respiration, iron-sulfur cluster assembly, iron homeostasis, maintenance of the redox status, therapeutic approaches.

Posttranslational stability of the heme biosynthetic enzyme ferrochelatase is dependent on iron availability and intact iron-sulfur cluster assembly machinery

Blood, 28 January 2010, Vol. 115, No. 4, pp. 860-869.

Daniel R. Crooks1,2, Manik C. Ghosh2, Ronald G. Haller3, Wing-Hang Tong2, and Tracey A. Rouault2


1 Department of Biochemistry, Molecular and Cellular Biology, Georgetown University Medical Center, Washington, DC; 2 Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD; and 3 Department of Neurology, University of Texas Southwestern Medical Center and Veterans Administration North Texas Medical Center, and Neuromuscular Center, Institute for Exercise and Environmental Medicine, Dallas

Keywords:  ferrochelatase, iron-sulfur [2Fe-2S] cluster, posttranscriptional regulation of ferrochelatase,  in vivo.  We propose that decreased heme biosynthesis resulting from impaired Fe-S cluster assembly can contribute to the pathogenesis of diseases caused by defective Fe-S cluster biogenesis.

R loops stimulate genetic instability of CTG·CAG repeats

PNAS, Edited by Philip C. Hanawalt, Stanford University, Stanford, CA, and approved November 27, 2009 (received for review August 26, 2009)

Yunfu Lina, Sharon Y. R. Dentb, John H. Wilsona, Robert D. Wellsc, and Marek Napieralab,c,1

aBaylor College of Medicine, Verna and Marrs McLean Department of Biochemistry and Molecular Biology, One Baylor Plaza, Houston, TX 77030;
bUniversity of Texas M. D. Anderson Cancer Center, Department of Biochemistry and Molecular Biology and Center for Cancer Epigenetics, 1515 Holcombe Boulevard, Houston, TX 77030; and
cCenter for Genome Research, Institute of Biosciences and Technology, Texas A&M Health Science Center, 2121 West Holcombe Boulevard, Houston, TX 77030.
 
This article contains supporting information online at www.pnas.org/cgi/content/full/0909740107/DCSupplemental.

Safety issues of iron chelation therapy in patients with normal range iron stores including thalassaemia, neurodegenerative, renal and infectious diseases

Expert Opinion on Drug Safety. Posted online on 09 Jan 2010.

G J Kontoghiorghes‌†1, A Kolnagou‌2, C-T Peng‌3, S V Shah‌4 & A Aessopos‌5
1Postgraduate Research Institute of Science, Technology, Environment and Medicine, 3 Ammochostou Sreet, Limassol, 3021. Cyprus+35 7 2627 2076; +35 72 627 1434; kontoghiorghes.g.j@pri.ac.cy
2Postgraduate Research Institute, Science, Technology, Environment and Medicine Limassol and Thalassaemia unit, Paphos General Hospital, Paphos, Cyprus
3Children's Medical Center, China Medical University Hospital, Taichung, Taiwan
4Division of Nephrology, University of Arkansas for Medical Sciences, Little Rock, USA
5First Department of Internal Medicine, University of Athens Medical School, Laiko Hospital, Athens, Greece

Keywords: thalassaemia,  chelation therapy, body iron levels,  neurodegenerative, renal, infectious diseases, chelator overdose toxicity, essential metal deficiencies, deferoxamine, deferasirox,  deferiprone, short-term treatments,  longer term treatments,  non-iron loading conditions.

Immunobiology of gene therapy for neurodegenerative disease: prospects and risks

Gene Therapy advance online publication 11 February 2010; doi: 10.1038/gt.2010.2

M M McMenamin1 and M J A Wood
Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK

Keywords: viral vectors, neurodegenerative disease, immune response, CNS, re-administration

New hope in hunt for ataxia cure

theage.com.au
6:22AM Thu February 11, 2010

NICK MILLER -february 11, 2010  

Teams from the University of Melbourne and the Monash Institute of Medical Research have made pluripotent stem cells from the skin of FA sufferers, .....read more

Frataxin, a molecule of mystery: trading stability for function in its iron-binding site

Biochem. J. (2010) 426 (e1–e3) (Printed in Great Britain)

Darius J. R. Lane* and Des R. Richardson†1
*Department of Biochemistry and Molecular Biology, School of Biomedical Sciences, Monash University, Melbourne, Victoria, 3800, Australia, and †Department of Pathology and Bosch Institute, Iron Metabolism and Chelation Program, Blackburn Building, University of Sydney, Sydney, New South Wales, 2006, Australia
 
Key words: frataxin, Friedreich's ataxia (FRDA), iron–sulfur cluster, Isu protein, mitochondrion, yeast frataxin (Yfh1).

Overcoming frataxin gene silencing in Friedreich’s ataxia with small molecules: studies on cellular and animal models

Rai, Myriam.
F204 - Faculté de médecine - Sciences biomédicales
Doctorat en sciences biomédicales, Date de défense 2010-01-05
Keywords: frataxin, Friedreich's ataxia, chromatin, biomarker, histone deacetylase inhibitor.

Diazoxide for the treatment of Friedreich's Ataxia

United States Patent Application 20100029576 Kind Code:A1

Inventors: Marobbio, Carlo Marya Thomas (Bari, IT) , Palmeri, Luigi (Bari, IT),  Palmeri, Ferdinando (Bari, IT),  Santoro, Antonella (Bari, IT)

Assignee: UNIVERSITA' DEGLI STUDI DI BARI (Bari, IT)

"A pharmaceutical preparation treats Friedreich's ataxia and treats or prevents pathologies related thereto"

"With the present invention it is therefore possible to increase the frataxin expression level."