Medtronic Announces Global Launch Of The CD HORIZON(R) SOLERA™ Spinal System

Medical News Today, Article Date: 30 Jan 2011 - 0:00 PST, Source: Spine Business, Medtronic

Continuing a stream of recent advancements for stabilization of the spine, Medtronic, Inc. (NYSE: MDT) announced both the release of its CD HORIZON® SOLERA™ Spinal System in the U.S. and a limited market release in Japan. This product launch is part of the CD HORIZON® family of fixation devices, designed to provide spinal stabilization and correction as an adjunct to fusion in patients suffering from painful and function-limiting disorders of the middle and lower back. read full text....

Further information:

http://www.lessinvasivespine.com/sextant-system.html

http://www.medtronic.com/your-health/scoliosis/device/our-spinal-system/cd-horizon-legacy-system/index.htm

Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia

BioTechniques, Vol. 50, No. 3, March 2011

Timothy P. Holloway*1,2, Simone M. Rowley*1, Martin B. Delatycki1,3, 4, and Joseph P. Sarsero1,2, 3
1Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia
2Cell and Gene Therapy, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia
3Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia
4Department of Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia

"simple and rapid PCR- and restriction enzyme–based assay", "Interruptions in the GAA repeat may serve to alleviate the inhibitory effects of the GAA expansion on FXN gene expression and to decrease pathogenicity"

Full text pdf

Mammalian Frataxin: An Essential Function for Cellular Viability through an Interaction with a Preformed ISCU/NFS1/ISD11 Iron-Sulfur Assembly Complex

PLoS ONE 6(1): e16199. doi:10.1371/journal.pone.0016199

Stéphane Schmucker1,2,3,4,5, Alain Martelli1,2,3,4,5, Florent Colin1,2,3,4,5, Adeline Page1,2,3,4, Marie Wattenhofer-Donzé1,2,3,4,5, Laurence Reutenauer1,2,3,4,5, Hélène Puccio1,2,3,4,5*

1 Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France, 2 Inserm U596, Illkirch, France, 3 CNRS UMR7104, Illkirch, France, 4 Université de Strasbourg, Strasbourg, France, 5 Chaire de Génétique Humaine, Collège de France, Illkirch, France

OPEN ACCESS

Conclusions/Significance

Our results suggest that the interaction of frataxin with the core ISCU/NFS1/ISD11 complex most likely defines the essential function of frataxin. Our results provide new elements important for further understanding the early steps of de novo Fe-S cluster biosynthesis

FULL TEXT PDF

The Mitochondrial Connection in Auditory Neuropathy.

Audiol Neurotol 2011;16:398-413 (DOI: 10.1159/000323276)

Cacace AT, Pinheiro JM.
Department of Communication Sciences and Disorders, Wayne State University, Detroit, Mich., USA.

Keywords: Auditory brainstem responses, Auditory neuropathy, Charcot-Marie-Tooth disease, Autosomal dominant optic atrophy, Cochlear microphonics, Friedreich’s ataxia, Hyperbilirubinemia, Respiratory chain, Leber’s hereditary optic neuropathy, Mitochondria, Otoacoustic emissions.

Analysis of nucleosome positioning determined by DNA helix curvature in the human genome

Hongde Liu, Xueye Duan, Shuangxin Yu and Xiao Sun.

BMC Genomics 2011, 12:72doi:10.1186/1471-2164-12-72
Published: 27 January 2011

OPEN ACCESS

Full text PDF

Dedifferentiation, transdifferentiation and reprogramming: three routes to regeneration

Nature Reviews Molecular Cell Biology 12, 79-89 (February 2011) | doi:10.1038/nrm3043

Chris Jopling1, Stephanie Boue1 & Juan Carlos Izpisua Belmonte1,2
1. Center of Regenerative Medicine in Barcelona. 2. Salk Institute for Biological Studies, La Jolla, California.

[The various forms of left ventricular hypertrophy : Diagnostic value of echocardiography.]

Herz. 2011 Jan 20. [Epub ahead of print]

Article in German

Weidemann F, Störk S, Herrmann S, Ertl G, Niemann M.

Medizinische Klinik und Poliklinik I, Herz- und Kreislaufzentrum, Universität Würzburg, Oberdürbacherstr. 6, 97080, Würzburg, Deutschland

Keywords:Left ventricular hypertrophy, echocardiography, advanced imaging modalities, hypertrophic obstructive cardiomyopathy, systolic function, thickened septum, concentric left ventricular hypertrophy, Friedreich cardiomyopathy, left ventricular hypertrophy, sparkling granular texture, early diagnosis.

Systems biological approach on neurological disorders: a novel molecular connectivity to aging and psychiatric diseases

BMC Systems Biology 2011, 5:6doi:10.1186/1752-0509-5-6

Shiek S.S.J Ahmed, Abdul R. Ahameethunisa, Winkins Santosh, Srinivasa Chakravarthy and Suresh Kumar

OPEN ACCESS

This study improves the understanding of the complex interactions that occur between neurological and psychiatric diseases with aging, which lead to determine the diagnostic markers. Also, the disease-disease association results could be helpful to determine the symptom relationships between neurological and psychiatric diseases. Together, our study presents many research opportunities in post-genomic biomarker development.

"this approach provides the additional information that PDHB is not only associated with Parkinson’s disease but also associated with Athetosis and Friedreich Ataxia"

FULL TEXT PDF

Information from cochlear potentials and genetic mutations helps localize the lesion site in auditory neuropathy

Genome Med 2010, 2:91 doi:10.1186/gm212

Rosamaria Santarelli, Department of Medical and Surgical Specialities, Service of Audiology and Phoniatrics, University of Padua

Keywords: Auditory neuropathy (AN), disruption of auditory nerve activity,  impairment of speech perception,  hearing loss, abnormality of auditory brainstem potentials, preserved outer hair-cell activities, multisystem involvement,  peripheral and optic neuropathies, abnormal cochlear potentials have been recorded from patients, genetically based auditory neuropathies,  molecular mechanisms.

In Focus: Friedreich’s Ataxia, MDA Special Report on Friedreich’s Ataxia

A new MDA special report on Friedreich’s ataxia (FA) is now available online.  The report provides a wide range of information about FA, including research news, medical management updates and personal stories from people affected by the disease.

FULL TEXT PDF

Friedreich's Ataxia (GAA)n•(TTC)n Repeats Strongly Stimulate Mitotic Crossovers in Saccharomyces cerevisae

PLoS Genetics

Wei Tang¹, Margaret Dominska¹, Patricia W. Greenwell¹, Zachary Harvanek¹, Kirill S. Lobachev², Hyun-Min Kim^2¤, Vidhya Narayanan², Sergei M. Mirkin³, Thomas D. Petes^1*

1 Department of Molecular Genetics and Microbiology, Duke University, Durham, North Carolina, United States of America, 2 School of Biology and Institute for Bioengineering and Bioscience, Georgia Institute of Technology, Atlanta, Georgia, United States of America, 3 Department of Biology, Tufts University, Medford, Massachusetts, United States of America

OPEN ACCESS

 Although meiotic recombination has been much more studied than mitotic recombination, mitotic recombination is a universal property. Meiotic recombination rates are quite variable within the genome, with some chromosomal regions (hotspots) having much higher levels of exchange than other regions (coldspots). For mitotic recombination, although some types of DNA sequences are known to be associated with elevated recombination rates (highly-transcribed genes, inverted repeated sequences), relatively few hotspots have been described. In this report, we show that a 690 base pair region consisting of 230 copies of the (GAA)_n•(TTC)_n trinucleotide repeat stimulates mitotic crossovers in yeast 10,000-fold more strongly than an “average” yeast sequence. This sequence is a preferred site for chromosome breakage in stationary phase yeast cells. Our findings may be relevant to understanding the expansions of the (GAA)_n•(TTC)_n trinucleotide repeat tracts that are associated with the human disease Friedreich's ataxia.

Full Text Pdf

Skin provides Australia's first adult stem cells for rare genetic disease

January 13, 2011

(PhysOrg.com) -- Scientists have developed Australia’s first adult induced pluripotent stem cell lines using skin biopsies from patients with the rare genetic disease Friedreich Ataxia (FA).

Newspaper article based on a paper published in Stem Cell Reviews and Reports the last December 22 (Generation of Induced Pluripotent Stem Cell Lines from Friedreich Ataxia Patients.)

Localization of sequence variations in PGC-1alpha influence their modifying effect in Huntington disease

Molecular Neurodegeneration 2011, 6:1doi:10.1186/1750-1326-6-1

Hong Van B Che, Silke Metzger, Esteban Portal, Carolin Deyle, Olaf Riess and Huu Phuc Nguyen.

OPEN ACCES

Results
Two SNPs, one in the promoter and one in the transcribed region of the gene, showed a significant effect on the AAO. While the minor allele of SNP rs7665116 (g.38570C), located in the transcribed gene region, was associated with a delay in disease onset, especially in HD patients with Italian ancestry, the minor allele of SNP rs2970870 (g.-1437C) in the promoter region leads to an earlier onset of HD in its homozygous state. Additionally, global testing of haplotype block 2, which covers the main part of the transcribed region of the gene, revealed an association between block 2 haplotypes and the disease onset.

FULL TEXT PDF

Preventing the ubiquitin/proteasome-dependent degradation of frataxin, the protein defective in Friedreich’s Ataxia

Human Molecular Genetics doi:10.1093/hmg/ddq566

Alessandra Rufini, Silvia Fortuni, Gaetano Arcuri, Ivano Condo’, Dario Serio, Ottaviano Incani, Florence Malisan, Natascia Ventura, Roberto Testi

kEYWORDS: Friedreich’s Ataxia (FRDA),frataxin, mitochondrial defects, oxidative damage, frataxin stability and degradation, ubiquitin-proteasome system, K147, K147R substitution, aconitase activity, ATP levels, therapeutic potential, frataxin degradation pathway.

A registry of registries? The US backs the idea for patients

Nature Medicine Volume:17, Page:4 Year published: (2011)
DOI:10.1038/nm0111-4a, Published online 07 January 2011

Monica Heger

"The database would serve patients and physicians looking for specific disease registries, researchers investigating a particular disease and drug developers".

Keywords: ClinicalTrials.gov, registry, federally and privately funded clinical trials, world, registry of patient registries.

Patent application title: Inhibitors of Acetyl-CoA Carboxylase for Treatment of Neuronal Hypometabolism

Publication date: 01/06/2011, Patent application number: 20110003767

Treatment, prevention, inhibition or alleviation of diseases associated with neuronal hypometabolism and/or loss of cognitive function caused by reduced neuronal metabolism such as, for example, Age Associated Memory Impairment (AAMI), Mild Cognitive Impairment (MCI), Alzheimer's disease, Parkinson's disease, Friedreich's Ataxia (FRDA).....

Key Players and Their Role During Mitochondrial Iron–Sulfur Cluster Biosynthesis

Chemistry - A European Journal, n/a. doi: 10.1002/chem.201002143
Article first published online: 5 JAN 2011

Swati Rawat, Dr. Timothy L. Stemmler

Keywords: biosynthesis, Fe–S clusters, frataxin, Isu scaffold, metalloproteins

FULL TEXT