Residential Design For Persons With Neurological Disability

NeuroRehabilitation, Volume 25, Issue 3 (November 2009) Published by IOS Press

Content:

-Rehabilitation Design

-Evidence-based long term care design

-Enhancing quality of life through Universal Design

-Ten new and emerging trends in residential group living environments
 

-Enriching lighting design

-Residential design and outdoor area accessibility

-Smart homes for people with neurological disability: State of the art

-Residential design for real life rehabilitation

Epigenetic Silencing in Friedreich Ataxia Is Associated with Depletion of CTCF (CCCTC-Binding Factor) and Antisense Transcription

OPEN ACCESS

PLoS ONE 4(11): e7914. doi:10.1371/journal.pone.0007914

Irene De Biase^1#, Yogesh K. Chutake^1#, Paul M. Rindler¹, Sanjay I. Bidichandani^1,2*

1 Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, United States of America, 2 Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, United States of America

Abstract

 

Background

Over 15 inherited diseases are caused by expansion of triplet-repeats. Friedreich ataxia (FRDA) patients are homozygous for an expanded GAA triplet-repeat sequence in intron 1 of the FXN gene. The expanded GAA triplet-repeat results in deficiency of FXN gene transcription, which is reversed via administration of histone deacetylase inhibitors indicating that transcriptional silencing is at least partially due to an epigenetic abnormality.

Methodology/Principal Findings

We found a severe depletion of the chromatin insulator protein CTCF (CCCTC-binding factor) in the 5′UTR of the FXN gene in FRDA, and coincident heterochromatin formation involving the +1 nucleosome via enrichment of H3K9me3 and recruitment of heterochromatin protein 1. We identified FAST-1 (FXN Antisense Transcript – 1), a novel antisense transcript that overlaps the CTCF binding site in the 5′UTR, which was expressed at higher levels in FRDA. The reciprocal relationship of deficient FXN transcript and higher levels of FAST-1 seen in FRDA was reproduced in normal cells via knockdown of CTCF.

Conclusions/Significance

CTCF depletion constitutes an epigenetic switch that results in increased antisense transcription, heterochromatin formation and transcriptional deficiency in FRDA. These findings provide a mechanistic basis for the transcriptional silencing of the FXN gene in FRDA, and broaden our understanding of disease pathogenesis in triplet-repeat diseases.

 Full text (pdf) http://www.plosone.org/article/fetchObjectAttachment.action;jsessionid=F09024199E18C3B55BF5F22C106E7255?uri=info%3Adoi%2F10.1371%2Fjournal.pone.0007914&representation=PDF

Excellent initiative to spread, and promote scientific research on rare diseases

Public Television of Catalunya, TV3, is doing important work through the "Fundació la Marató deTV3" ,this year focuses on rare diseases.

Yeast frataxin mutants display decreased superoxide dismutase activities crucial to promote protein oxidative damage

Free Radical Biology and Medicine, doi:10.1016/j.freeradbiomed.2009.11.010
Verónica Irazustaa, Elia Obisa, Armando Moreno-Cermeñoa, Elisa Cabiscola, Joaquim Ros, a, and Jordi Tamarita, Grup de Bioquímica de l’Estrés Oxidatiu, Departament de Ciències Mèdiques Bàsiques, Facultat de Medicina, Universitat de Lleida, Lleida, Spain.

Keywords: Iron-overload; protein carbonylation; metal-catalyzed oxidation; frataxin; magnesium-binding proteins, Mn-SOD, CuZn-SOD, superoxide dismutase; iron toxicity; Friedreich ataxia

Safety Study of Carbamylated Erythropoietin to Treat Patients With the Neurodegenerative Disorder Friedreich's Ataxia

This study is currently recruiting participants.

First Received: November 18, 2009   No Changes Posted

Sponsor:	H. Lundbeck A/S
Information provided by:	H. Lundbeck A/S
ClinicalTrials.gov Identifier:	NCT01016366

A Nanomedicine Transports a Peptide Caspase-3 Inhibitor across the Blood–Brain Barrier and Provides Neuroprotection

The Journal of Neuroscience, November 4, 2009, 29(44):13761-13769; doi:10.1523/JNEUROSCI.4246-09.2009

Hulya Karatas,1 Yesim Aktas,2 Yasemin Gursoy-Ozdemir,1 Ebru Bodur,3 Muge Yemisci,1 Secil Caban,2 Atay Vural,1 Onur Pinarbasli,2 Yilmaz Capan,2 Eduardo Fernandez-Megia,4 Ramon Novoa-Carballal,4 Ricardo Riguera,4 Karine Andrieux,5 Patrick Couvreur,5 and Turgay Dalkara1

1Department of Neurology, Faculty of Medicine and Institute of Neurological Sciences and Psychiatry, 2Department of Pharmaceutical Technology, Faculty of Pharmacy, and 3Department of Biochemistry, Faculty of Medicine, Hacettepe University, 06100 Ankara, Turkey, 4Departamento de Química Orgánica, Facultad de Química, and Unidad de Resonancia Magnética Nuclear de Biomoléculas Asociada al Consejo Superior de Investigaciones Científicas, Universidad de Santiago de Compostela, 15782 Santiago de Compostela, Spain, and 5Physico-Chimie, Pharmacotechnie, Biopharmacie, Faculté de Pharmacie, Université Paris Sud, UMR Centre National de la Recherche Scientifique 8612, 92296 Chatenay Malabry, France

Keywords:  cross the blood–brain barrier (BBB), nanocarrier system,chitosan nanospheres, caspase-3 inhibitor, Polyethylene glycol-coated nanospheres, intravenously injected,  neuroprotection, efficient penetration, brain delivery,  treatment of CNS disorders.

On Your Last Nerve: Researchers Advance Understanding of Stem Cells

ScienceDaily (Nov. 17, 2009) — Researchers from North Carolina State University have identified a gene that tells embryonic stem cells in the brain when to stop producing nerve cells called neurons. The research is a significant advance in understanding the development of the nervous system, which is essential to addressing conditions such as Parkinson's disease, Alzheimer's disease and other neurological disorders.

Read more ...

Acute Beta-adrenergic Stimulation does not Alter Mitochondrial Protein Synthesis or Markers of Mitochondrial Biogenesis in Adult Men.

Am J Physiol Regul Integr Comp Physiol. 2009 Nov 11

Robinson MM, Richards JC, Hickey MS, Moore DR, Phillips SM, Bell C, Miller BF.
Colorado State University.

Keywords: peroxisome proliferator-activated receptor gamma coactivator-1 alpha (PGC-1alpha), beta-adrenergic receptor (beta-AR) antagonist, skeletal muscle PGC-1alpha expression, mitochondrial biogenesis, whole body protein turnover (WBPT), myofibrillar protein synthesis (MyPS), skeletal muscle mitochondrial protein synthesis (MiPS), mitochondrial biogenic signalling, non-specific beta-AR agonist (isoproterenol (ISO),PGC-1alpha, TFAM, NRF-1, NRF-2, COX, NADHox.

Frataxin (FXN); histone deacetylase 3 (HDAC3)

SciBX: Science-Business eXchange 2, (2009) | doi:10.1038/scibx.2009.1637.

Kwywords: cell culture, HDAC3, Friedreich's ataxia, neurodegenerative, FXN gene.

Neuroprotection using gene therapy to induce vascular endothelial growth factor-A expression

Gene Therapy (2009) 16, 1292–1299; doi:10.1038/gt.2009.111;
S A Sakowski1, S B Heavener2,5, J S Lunn1, K Fung3, S S Oh1, S K Spratt4, N D Hogikyan2 and E L Feldman1

1Department of Neurology, University of Michigan Medical Center, Ann Arbor, MI, USA
2Department of Otolaryngology-Head and Neck Surgery, University of Michigan Medical Center, Ann Arbor, MI, USA
3Department of Otolaryngology, University of Western Ontario, London, Ontario, Canada
4Sangamo BioSciences, Inc., Richmond, CA, USA

Keywords:zinc-finger protein (ZFP) transcription factors, adenoviral vectors, Ad-32Ep65-Flag (Ad-p65), VEGF, increase in axon outgrowth, neuroprotective effects, laryngeal nerve (RLN)-crush injury, nerve regeneration, nerve injury, neurodegeneration.