Prevalence of interatrial block in patients with Friedreich's Ataxia

Articles in Press: International Journal of Cardiology, Received 26 January 2010; accepted 14 February 2010. published online 08 March 2010.

Marios Panasb1, Elias GialafosaCorresponding Author Information1email address, Kostas Spengosb, Theodore G. Papaioannoua, Konstantina Aggelia, Athina Kladib, Gerasimos Siasosa, John Gialafosa, Dimitrios Vassilopoulosb, Christodoulos Stefanadisa

a First Dept. of Cardiology, Hippokration Hospital, Medical School, National & Kapodistrian University of Athens, Greece

b First Dept. of Neurology, Medical School, National & Kapodistrian University of Athens, Greece

Keywords: Interatrial block, Friedreich's Ataxia, P-wave duration, atrial arrhythmias

Rare opportunities appear on the horizon to treat rare diseases

Nature Medicine 16, 241 (2010), doi:10.1038/nm0310-241

Christian Torres, New York

A role for p53 in mitochondrial stress response control of longevity in C. elegans.

Exp Gerontol. 2010 Feb 18. [Epub ahead of print]

Torgovnick A, Schiavi A, Testi R, Ventura N.
Department of Experimental Medicine and Biochemical Sciences, University of Rome "Tor Vergata", Rome, Italy.

Keywords: aging, degenerative disorders, mitochondrial deterioration, cellular damage accumulation, mitochondrial dysfunction, electron transport chain, p53/cep-1, frataxin, Friedreich's ataxia, antioxidant glutathione-S-transferase, therapeutic approaches.

Repeat instability as the basis for human diseases and as a potential target for therapy

Nature Reviews Molecular Cell Biology 11, 165-170 (March 2010) | doi:10.1038/nrm2854

Arturo López Castel1, John D. Cleary1,2 & Christopher E. Pearson1,2
1. Arturo López Castel, John D. Cleary and Christopher E. Pearson are at the Program of Genetics & Genome Biology, The Hospital for Sick Children, 101 College Avenue, East Tower 15-312, TMDT Toronto, Ontario, Canada, M5G 1L7.
2. John D. Cleary and Christopher E. Pearson are also at the Department of Molecular Genetics, University of Toronto, Canada.

Keywords: Expansions of repetitive DNA sequences, neurological, neuromuscular diseases, DNA replication, repair, recombination, transcription, epigenetics, therapeutic strategies,Huntington's disease (HD), myotonic dystrophy (DM1), fragile X syndrome type A (FRAXA), Friedreich's ataxia (FRDA), spinocerebellar ataxias (SCAs)

Structure and Organization of Mitochondrial Respiratory Complexes: A New Understanding of an Old Subject

Antioxidants & Redox Signaling. Ahead of print. doi:10.1089/ars.2009.2704.

Giorgio Lenaz and Maria Luisa Genova
Dipartimento di Biochimica “G. Moruzzi,” Alma Mater Studiorum, Università di Bologna, Bologna, Italy.
 
Keywords: enzymatic complexes, mitochondrial respiratory chain,  redox potential, (complexes I, III, and IV), reactive oxygen species, smaller redox components, coenzyme Q, cytochrome c, supramolecular associations, substrate channeling, oxygen radical formation. .

Potential Therapeutic Benefits of Strategies Directed to Mitochondria

Antioxidants & Redox Signaling. -Not available-, ahead of print. doi:10.1089/ars.2009.2788.

Amadou K.S. Camara,1
Edward J. Lesnefsky,5,6 and
David F. Stowe1,2,3,4
1Department of Anesthesiology, Medical College of Wisconsin, Milwaukee, Wisconsin.
2Department of Physiology, Medical College of Wisconsin, Milwaukee, Wisconsin.
3Department of Cardiovascular Research Center, Medical College of Wisconsin, Milwaukee, Wisconsin.
4Research Service, Veterans Affairs Medical Center, Milwaukee, Wisconsin.
5Medical Service, Hunter Holmes McGuire Veterans Affairs Medical Center, Richmond, Virginia.
6Departments of Medicine (Division of Cardiology) and Biochemistry, Virginia Commonwealth University, Richmond, Virginia.

Mechanisms of brain iron transport: insight into neurodegeneration and CNS disorders

Eric Mills‌1, Xian-ping Dong‌1, Fudi Wang‌2 & Haoxing Xu‌1†
1Department of Molecular, Cellular, and Developmental Biology, University of Michigan, 3089 Natural Science Building (Kraus), 830 North University, Ann Arbor, MI 48109, USA. haoxingx@umich.edu
2Key Laboratory of Nutrition and Metabolism, Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, PR China
 
Keywords: iron, copper, zinc, manganese, cobalt, iron-transport mechanisms in the CNS,  neurodegeneration ,CNS iron homeostasis, blood–brain barrier, novel therapeutic targets.

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.