Protocol proposal for Friedreich ataxia molecular diagnosis using fluorescent and triplet repeat primed polymerase chain reaction

LINK: http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B83WW-50X8GB2-1&_user=10&_coverDate=08%2F31%2F2010&_rdoc=1&_fmt=high&_orig=browse&_origin=browse&_sort=d&view=c&_acct=C000050221&_version=1&_urlVersion=0&_userid=10&md5=8b4ac06505c1ed6fa9282efeaeeed2fd

Translational Research. Article in Press.
doi:10.1016/j.trsl.2010.08.001

Mar Xunclàa, b, Laia Rodríguez-Revengaa, c, Irene Madrigala, c, Dolores Jiméneza, Montserrat Milàa, c, d and Cèlia Badenasa, c, d,

a Biochemistry and Molecular Genetics Service. Hospital Clínic, b Fundació Clínic per a la Recerca Biomèdica, c CIBER de Enfermedades Raras, d Institut d’Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain

Researchers Develop Hybrid Protein Tools For Gene Cutting And Editing

MedicalNews Today, Article Date: 31 Aug 2010

An Iowa State University team of researchers has developed a type of hybrid proteins that can make double-strand DNA breaks at specific sites in living cells, possibly leading to better gene replacement and gene editing therapies. Read more

[Distribution of frataxin in eye retina of normal mice and of transgenic R7E mice with retinal degeneration]

Zh Evol Biokhim Fiziol. 2010 Jul-Aug;46(4):347-9.

[Article in Russian]

Development of a potential therapy for Friedreich ataxia based on transduction of the frataxin protein in the mitochondria

Canadian Association for Familial Ataxias - Claude St-Jean Foundation
August 25, 2010,

CAFA IS LAUNCHING A MAJOR RESEARCH PROJECT

This research project’s goal is to develop a therapy for Friedreich ataxia by targeting the actual cause of the illness, the reduction of frataxin. The project will therefore aim to administer the frataxin protein intravenously. However, as this protein does not spontaneously penetrate cells, it will be encapsulated with peptides (fragments of other proteins), in nanoparticles. Alternatively, the frataxin protein itself will be modified by adding peptides which will allow the proteins to penetrate not only the interior of cells, but also the interior of the mitochondria.

Symposium participants optimistic about finding first treatment for Friedreich's ataxia

USF Health News, August 30, 2010 @ 4:58 pm

"With all the significant scientific advancements presented, at the end of the symposium it was the people with Friedreich’s ataxia who gave the research meaning and value"

Proteomic Analysis of Protein-Protein Interactions within the CSD Fe-S Cluster Biogenesis System

J. Proteome Res., Just Accepted Manuscript, Publication Date (Web): August 24, 2010

Heather May Bolstad , Danielle J Botelho and Matthew James Wood

Keygen: Fe-S cluster biogenesis, cysteine desulfurase CsdA, sulfur acceptor protein CsdE, E1-like protein CsdL. Fe-S cluster assembly (ErpA, glutaredoxin-3, glutaredoxin-4), sulfur trafficking (CsdL, YchN) proteins, two-pathway model.

FULL TEXY PDF

Lipid Peroxides: More Sophisticated Than Their Reputation

ScienceDaily (Aug. 24, 2010) — Accumulation of lipid peroxides in the cell are associated with diseases and cellular stress. In the current issue of Proceedings of the National Academy of Sciences, researchers at Helmholtz Zentrum München and the Swedish medical university Karolinska Institutet show that lipid peroxides also play an important, yet-unrecognized role in the regulation of receptor tyrosine kinases.

Reference scientific paper:
12/15-lipoxygenase-derived lipid peroxides control receptor tyrosine kinase signaling through oxidation of protein tyrosine phosphatases.
M. Conrad, A. Sandin, H. Forster, A. Seiler, J. Frijhoff, M. Dagnell, G. W. Bornkamm, O. Radmark, R. Hooft van Huijsduijnen, P. Aspenstrom, F. Bohmer, A. Ostman. Proceedings of the National Academy of Sciences, 2010; DOI: 10.1073/pnas.1007909107

The Monash University are seeking healthy participants for the control group, Understanding Motor Deficits in Friedreich's Ataxia

The aim of this study is to investigate the extent of motor overflow in people with Friedreich's ataxia. Motor overflow refers to involuntary movement which occurs on the opposite side of the body when voluntary movement takes place on one side.

Defects in Mitochondrial Axonal Transport and Membrane Potential without Increased Reactive Oxygen Species Production in a Drosophila Model of Friedreich Ataxia

The Journal of Neuroscience, August 25, 2010, 30(34):11369-11378; doi:10.1523/JNEUROSCI.0529-10.2010

Yujiro Shidara {dagger} and Peter J. Hollenbeck
Department of Biological Sciences, Purdue University, West Lafayette, Indiana 47907

KEYWORDS: Friedreich ataxia, frataxin deficiency, oxidative stress, cellular neuropathology, mitochondrial axonal transport, membrane potential (MMP), reactive oxygen species (ROS), neuromuscular junctions (NMJs), antimycin A.

Long-term effects of coordinative training in degenerative cerebellar disease†

Movement Disorders, Article first published online: 24 AUG 2010, DOI: 10.1002/mds.23222

Winfried Ilg PhD1, Doris Brötz PT2, 3. Susanne Burkard PT3, Martin A. Giese PhD1, Ludger Schöls MD4,*, Matthis Synofzik MD4.