Abnormal Left Atrial Contraction in Friedreich Ataxia—Relation with Both Alleles of the FXN Gene

Heart, Lung and Circulation
Volume 18, Supplement 3, 2009, Page S15
Abstracts for the Cardiac Society of Australia and New Zealand Annual Scientific Meeting and the International Society for Heart Research, Australasian Section, Annual Scientific Meeting

R.E. Peverill^1, , L. Donelan¹, J.S. Gelman¹, P.M. Mottram¹, L.A. Corben² and M.B. Delatycki²

¹Monash Cardiovascular Research Centre, MonashHEART and Monash University Department of Medicine (MMC), Australia

²Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia

The role of PGC-1{alpha} on mitochondrial function and apoptotic susceptibility in muscle

Peter J. Adhihetty,² Giulia Uguccioni,^1,3 Lotte Leick,⁴ Juan Hidalgo,⁵ Henriette Pilegaard,⁴ and David A. Hood^1,2,3

¹School of Kinesiology and Health Science, ²Department of Biology, and ³The Muscle Health Research Centre, York University, Toronto, Ontario, Canada; ⁴Copenhagen Muscle Research Centre and Centre of Inflammation and Metabolism, Department of Biology, University of Copenhagen, Denmark, and ⁵Institute of Neurosciences and Department of Cellular Biology, Physiology and Immunology, Autonomous University of Barcelona, Barcelona, Spain

Submitted 12 February 2009 ; accepted in final form 5 May 2009

Keywords: endurance training; exercise; mitochondrial biogenesis; reactive oxygen species, cytochrome-c oxidase activity, brain, liver, pancreas.

Mitochondrial Dysfunction Leads to Nuclear Genome Instability via an Iron-Sulfur Cluster Defect

Joshua R. Veatch1, 2, Michael A. McMurray1, 2, 3, Zara W. Nelson1 and Daniel E. Gottschling1, ,
1Division of Basic Sciences, Fred Hutchinson Cancer Research Center, University of Washington, Seattle, WA 98109, USA
2The Molecular and Cellular Biology Program, University of Washington, Seattle, WA 98109, USA
3Present address: Department of Molecular and Cell Biology, University of California at Berkeley, Berkeley, CA 94720, USA
Received 14 September 2008; revised 30 January 2009; accepted 1 April 2009. Published: June 25, 2009. Available online 25 June 2009

Keywords; nuclear genome, genome instability, mitochondrial membrane potential, iron-sulfur cluster. a



Friedreich's Ataxia - Frataxin

Large-Scale Expansions of Friedreich's Ataxia GAA Repeats in Yeast

MolecularCell, Volume 35, Issue 1, 10 July 2009, Pages 82-92

Alexander A. Shishkin1, Irina Voineagu1, Robert Matera1, Nicole Cherng1, Brook T. Chernet1, Maria M. Krasilnikova2, Vidhya Narayanan3, Kirill S. Lobachev3 and Sergei M. Mirkin1, ,
1Department of Biology, Tufts University, Medford, MA 02155, USA
2Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA 16802, USA
3School of Biology and Institute for Bioengineering and Bioscience, Georgia Institute of Technology, Atlanta, GA 30332
Received 22 August 2008; revised 7 January 2009; accepted 18 June 2009. Published: July 9, 2009. Available online 9 July 2009.

Keywords: DNA repeats , GAA repeats, Friedreich's ataxia, chimeric URA3 gene, rates of expansions of GAA repeats.

Of yeast and men: Unraveling the molecular mechanisms of Friedreich's ataxia

Public release date: 9-Jul-2009

EurekAlert¡

This news is in reference to this work: Large-Scale Expansions of Friedreich's Ataxia GAA Repeats in Yeast

Genome-wide analysis of interactions between ATP-dependent chromatin remodeling and histone modifications

OPEN ACCES

Zhiming Dai , Xianhua Dai , Qian Xiang , Jihua Feng , Jiang Wang , Yangyang Deng and Caisheng He
BMC Genomics 2009, 10:304doi:10.1186/1471-2164-10-304
Published: 8 July 2009

Background
ATP-dependent chromatin remodeling and the covalent modification of histones play central roles in determining chromatin structure and function. Although several specific interactions between these two activities have been elaborated, the global landscape remains to be elucidated.
Results
In this paper, we have developed a computational method to generate the first genome-wide landscape of interactions between ATP-dependent chromatin remodeling and the covalent modification of histones in Saccharomyces cerevisiae. Our method succeeds in identifying known interactions and uncovers many previously unknown interactions between these two activities. Analysis of the genome-wide picture revealed that transcription-related modifications tend to interact with more chromatin remodelers. Our results also demonstrate that most chromatin remodeling-modification interactions act via interactions of remodelers with both histone-modifying enzymes and histone residues. We also found that the co-occurrence of both modification and remodeling has significantly different influences on multiple gene features (e.g. nucleosome occupancy) compared with the presence of either one.
Conclusions
We gave the first genome-wide picture of ATP-dependent chromatin remodeling-histone modification interactions. We also revealed how these two activities work together to regulate chromatin structure and function. Our results suggest that distinct strategies for regulating chromatin activity are selectively employed by genes with different properties.

Full text: http://www.biomedcentral.com/content/pdf/1471-2164-10-304.pdf

[Peridural anaesthesia with ropivacaine for a patient with Friedrich's ataxia : Caesarean section after dorsal stabilisation of the spinal column (Th5

Anaesthesist. 2009 Jul 3

Hanusch P, Heyn J, Well H, Weninger E, Hasbargen U, Rehm M.

Klinik für Anästhesiologie und Intensivmedizin, Klinikum der Universität München, Marchioninistr. 15, 81377, München, Deutsc

Keywords: Friedreich's ataxia, increased sensitivity to muscle relaxants, special care during anaesthesia, peridural anaesthesia, ropivacaine, sufentanil, muscle weakness, scoliosis, cardiomyopathy, impaired glucose tolerance.

Novel swing-assist un-motorized exoskeletons for gait training

Kalyan Mankala , Sai Banala and Sunil Agrawal

Journal of NeuroEngineering and Rehabilitation 2009, 6:24doi:10.1186/1743-0003-6-24

Published:	3 July 2009

Abstract (provisional)

Robotics is emerging as a promising tool for functional training of human movement. Much of the research in this area over the last decade has focused on upper extremity orthotic devices. Some recent commercial designs proposed for the lower extremity are powered and expensive - hence, these are unaffordable by most clinics. In this paper, we present a novel un-motorized bilateral exoskeleton that can be used to assist in treadmill training of motor-impaired patients, such as with motor-incomplete spinal cord injury. The exoskeleton is designed such that the human leg will have a desirable swing motion, once it is strapped to the exoskeleton. Since this exoskeleton is un-motorized, it can be produced cheaply and also will have the potential to reduce the physical demand on therapists during treadmill training. The salient features of this swing-assist exoskeleton are: (i) The design uses torsional springs at the hip and the knee joints to assist the swing motion. The springs get charged by the treadmill during stance phase of the leg and provide propulsion forces to the leg during swing. (ii) The design of the exoskeleton uses simple dynamic models of sagittal plane walking, which are used to optimize the parameters of the springs so that the foot can clear the ground and have a desirable forward motion during walking. (iii) This design approach was used to construct a bilateral exoskeleton and was tested during treadmill walking for a range of walking speeds between 1.0 mph and 4.0 mph. Joint encoders and interface force-torque sensors mounted on the exoskeleton were used to evaluate the effectiveness of the exoskeleton in terms of the hip and knee joint torques applied by the human during treadmill walking.

Full text: provisional PDF

Ataxia with vitamin E deficiency in southeast Norway, case report.

Koht J, Bjørnarå KA, Jørum E, Tallaksen CM.
Faculty of Medicine, University of Oslo, Oslo, Norway.

Keywords: AVED, Friedreich's ataxia, Frataxin gene, unknown prevalence, Norway, preschool age, neurological examination, re-evaluation, re-examination, neuropathy. Vitamin E, heterozygous mutation, p.A120T, p.R134X, alpha-tocopherol transport protein gene, chromosome 8q13, treatment available,

Nitric oxide and frataxin: two players contributing to maintain cellular iron homeostasis.

Ann Bot (Lond). 2009 Jun 25

Ramirez L, Zabaleta EJ, Lamattina L.
Instituto de Investigaciones Biológicas, Facultad de Ciencias Exactas y Naturales, CONICET-Universidad Nacional de Mar del Plata, CC 1245, (7600) Mar del Plata, Argentina.

Keywords: PLANTS, animals, bacteria, Nitric oxide, iron metabolism, Frataxin, mitochondrial iron homeostasis, frataxin knock-down Arabidopsis thaliana mutants.