Friedreich’s Ataxia and Gait Changes through Participation in Therapeutic Horseback Riding. Katherine J. Gilliland and Adam C. Knight Department of Kinesiology, Mississippi State University, Mississippi State, Mississippi. Clinical Kinesiology 66(1); Spring, 2012
Keywords: gait analysis, equine assisted therapy, neurological disorder, therapeutic horseback riding, Friedreich’s Ataxia (FA).
Wednesday, April 11, 2012
Tuesday, April 10, 2012
Retrospective study of the effects of inpatient rehabilitation on improving and maintaining functional independence in people with Friedreich ataxia.
Retrospective study of the effects of inpatient rehabilitation on improving and maintaining functional independence in people with Friedreich ataxia. Sarah C. Milne, Emma J. Campagna, Louise A. Corben, Martin B. Delatycki, Kwong Teo, Andrew J. Churchyard, Terry P. Haines. Archives of Physical Medicine and Rehabilitation , 05 April 2012 (doi: 10.1016/j.apmr.2012.03.026).
Keywords: Friedreich ataxia, rehabilitation, intervention, Functional Independence Measure, outcome
Keywords: Friedreich ataxia, rehabilitation, intervention, Functional Independence Measure, outcome
Saturday, April 7, 2012
"Habitual intake of dietary flavonoids and risk of Parkinson disease"
"Habitual intake of dietary flavonoids and risk of Parkinson disease"; X. Gao, A. Cassidy, M.A. Schwarzschild, E.B. Rimm, and A. Ascherio; Neurology WNL.0b013e31824f7fc4; published online ahead of print 4 April 2012; DOI:10.1212/WNL.0b013e31824f7fc4;
"Parkinson's disease is a neurological disease very different from the FA, but this statistical study shows what people have known since long time, the Flavonoids have a slight neuroprotective effect. It may be interesting to add these products to our diet, are harmless and also much more pleasant than the pills."
Explanation in simple terms:
Eating Berries May Lower Men's Parkinson's Risk, www.medicalnewstoday.com. Article Date: 06 Apr 2012
"Parkinson's disease is a neurological disease very different from the FA, but this statistical study shows what people have known since long time, the Flavonoids have a slight neuroprotective effect. It may be interesting to add these products to our diet, are harmless and also much more pleasant than the pills."
Explanation in simple terms:
Eating Berries May Lower Men's Parkinson's Risk, www.medicalnewstoday.com. Article Date: 06 Apr 2012
Thursday, April 5, 2012
Does chromatin modulation provide the first wet biomarker for Huntington's disease?
Does chromatin modulation provide the first wet biomarker for Huntington's disease?. Reilmann, R. (2012), Mov. Disord., 27: 473. doi: 10.1002/mds.24914
No abstract is available for this article.
No abstract is available for this article.
Iron Efflux from Astrocytes Plays a Role in Remyelination
Iron Efflux from Astrocytes Plays a Role in Remyelination. Katrin Schulz,
Antje Kroner, and Samuel David. The Journal of Neuroscience, 4 April 2012, 32(14): 4841-4847; doi: 10.1523/JNEUROSCI.5328-11.2012
Centre for Research in Neuroscience, The Research Institute of the McGill University Health Center, Montreal, Québec H3G 1A4, Canada
Keywords: iron, myelination, astrocytes, remyelination, ferroportin (Fpn), microglia, cytokines (TNF-α and IL-1β), FGF-2, IL-1β, IGF-1, TNF-α.
Antje Kroner, and Samuel David. The Journal of Neuroscience, 4 April 2012, 32(14): 4841-4847; doi: 10.1523/JNEUROSCI.5328-11.2012
Centre for Research in Neuroscience, The Research Institute of the McGill University Health Center, Montreal, Québec H3G 1A4, Canada
Keywords: iron, myelination, astrocytes, remyelination, ferroportin (Fpn), microglia, cytokines (TNF-α and IL-1β), FGF-2, IL-1β, IGF-1, TNF-α.
Wednesday, April 4, 2012
Estrogen Prevents Oxidative Damage to the Mitochondria in Friedreich's Ataxia Skin Fibroblasts
Estrogen Prevents Oxidative Damage to the Mitochondria in Friedreich's Ataxia Skin Fibroblasts. Richardson TE , Yu AE , Wen Y , Yang S-H , Simpkins JW (2012), PLoS ONE 7(4): e34600. doi:10.1371/journal.pone.0034600.
Abstrac:
Estrogen and estrogen-related compounds have been shown to have very potent cytoprotective properties in a wide range of disease models, including an in vitro model of Friedreich's ataxia (FRDA). This study describes a potential estrogen receptor (ER)-independent mechanism by which estrogens act to protect human FRDA skin fibroblasts from a BSO-induced oxidative insult resulting from inhibition of de novo glutathione (GSH) synthesis. We demonstrate that phenolic estrogens, independent of any known ER, are able to prevent lipid peroxidation and mitochondrial membrane potential (ΔΨm) collapse, maintain ATP at near control levels, increase oxidative phosphorylation and maintain activity of aconitase. Estrogens did not, however, prevent BSO from depleting GSH or induce an increased expression level of GSH. The cytoprotective effects of estrogen appear to be due to a direct overall reduction in oxidative damage to the mitochondria, enabling the FRDA fibroblast mitochondria to generate sufficient ATP for energy requirements and better survive oxidative stress. These data support the hypothesis that phenol ring containing estrogens are possible candidate drugs for the delay and/or prevention of FRDA symptoms.
OPEN ACCESS Full text PDF
Abstrac:
Estrogen and estrogen-related compounds have been shown to have very potent cytoprotective properties in a wide range of disease models, including an in vitro model of Friedreich's ataxia (FRDA). This study describes a potential estrogen receptor (ER)-independent mechanism by which estrogens act to protect human FRDA skin fibroblasts from a BSO-induced oxidative insult resulting from inhibition of de novo glutathione (GSH) synthesis. We demonstrate that phenolic estrogens, independent of any known ER, are able to prevent lipid peroxidation and mitochondrial membrane potential (ΔΨm) collapse, maintain ATP at near control levels, increase oxidative phosphorylation and maintain activity of aconitase. Estrogens did not, however, prevent BSO from depleting GSH or induce an increased expression level of GSH. The cytoprotective effects of estrogen appear to be due to a direct overall reduction in oxidative damage to the mitochondria, enabling the FRDA fibroblast mitochondria to generate sufficient ATP for energy requirements and better survive oxidative stress. These data support the hypothesis that phenol ring containing estrogens are possible candidate drugs for the delay and/or prevention of FRDA symptoms.
OPEN ACCESS Full text PDF
Rare diseases and orphan drugs
Rare diseases and orphan drugs, Irena Melnikova, Nature Reviews Drug Discovery 11, 267-268 (April 2012) | doi:10.1038/nrd3654
It is now widely recognized that rare diseases provide attractive niche opportunities for biopharmaceutical companies
Since 1983 when the Orphan Drug Act (ODA) was approved in the United States to promote the development of treatments for rare diseases more than 2,500 small molecules and biologics have been designated as orphan drugs, and currently, for a wide variety of rare diseases there are 460 medicines in clinical trials. The economic incentives for the industry, such as 7 years of market exclusivity, tax credits for certain development costs and application fee waivers helped to get this success, Japan, Australia and the European Union health autorities also worked in the same direction.
Over 80% of rare diseases are genetic in origin, they need a very different aproach, major strategies include: enzyme replacement, gene therapy or manipulation of gene expression.
It is now widely recognized that rare diseases provide attractive niche opportunities for biopharmaceutical companies
Since 1983 when the Orphan Drug Act (ODA) was approved in the United States to promote the development of treatments for rare diseases more than 2,500 small molecules and biologics have been designated as orphan drugs, and currently, for a wide variety of rare diseases there are 460 medicines in clinical trials. The economic incentives for the industry, such as 7 years of market exclusivity, tax credits for certain development costs and application fee waivers helped to get this success, Japan, Australia and the European Union health autorities also worked in the same direction.
Over 80% of rare diseases are genetic in origin, they need a very different aproach, major strategies include: enzyme replacement, gene therapy or manipulation of gene expression.
Tuesday, April 3, 2012
Key Enzyme Involved in Protecting Nerves from Degeneration Identified
Key enzyme involved in protecting nerves from degeneration identified. University of Pennsylvania (2012, March 30). ScienceDaily. Retrieved April 3, 2012, from http://www.sciencedaily.com /releases/2012/03/120330164852.htm
Their results, taken together with the findings of other studies, suggest that Nmnat may stabilize mitochondria in some way in order to keep axons in a healthy state.
Journal Reference: A Novel Drosophila Model of Nerve Injury Reveals an Essential Role of Nmnat in Maintaining Axonal Integrity. Yanshan Fang, Lorena Soares, Xiuyin Teng, Melissa Geary, Nancy M. Bonini. A Novel Drosophila Model of Nerve Injury Reveals an Essential Role of Nmnat in Maintaining Axonal Integrity. Current Biology, 2012; DOI: 10.1016/j.cub.2012.01.065
Their results, taken together with the findings of other studies, suggest that Nmnat may stabilize mitochondria in some way in order to keep axons in a healthy state.
Journal Reference: A Novel Drosophila Model of Nerve Injury Reveals an Essential Role of Nmnat in Maintaining Axonal Integrity. Yanshan Fang, Lorena Soares, Xiuyin Teng, Melissa Geary, Nancy M. Bonini. A Novel Drosophila Model of Nerve Injury Reveals an Essential Role of Nmnat in Maintaining Axonal Integrity. Current Biology, 2012; DOI: 10.1016/j.cub.2012.01.065
Saturday, March 31, 2012
Voice Disorder in Friedreich Ataxia
UPCOMING EVENTS:
The Voice Foundation’s, 41ST ANNUAL SYMPOSIUM:
CARE OF THE PROFESSIONAL VOICE
May 30 - June 3, 2012, The Westin Philadelphia
Philadelphia, Pennsylvania, USA
AGENDA 2012 MAY 31,Thursday
POSTER SESSION: Voice Disorder in Friedreich Ataxia
Adam Vogel, Mayumi Samahita, Joanne Folker, Bruce Murdoch, Louise Corben, Martin Delatycki
The Voice Foundation’s, 41ST ANNUAL SYMPOSIUM:
CARE OF THE PROFESSIONAL VOICE
May 30 - June 3, 2012, The Westin Philadelphia
Philadelphia, Pennsylvania, USA
AGENDA 2012 MAY 31,Thursday
POSTER SESSION: Voice Disorder in Friedreich Ataxia
Adam Vogel, Mayumi Samahita, Joanne Folker, Bruce Murdoch, Louise Corben, Martin Delatycki
Thursday, March 29, 2012
Research on plants for the understanding of diseases of nuclear and mitochondrial origin
Claudia Spampinato1 and Diego F. Gomez-Casati1,2
1Centro de Estudios Fotosintéticos y Bioquímicos (CEFOBI-CONICET), Universidad
Nacional de Rosario, Suipacha 531, 2000, Rosario, Argentina.
2Universidad Nacional de General San Martín (UNSAM), Av. Gral Paz 5445, San
Martín, Buenos Aires, Argentina.
Highlight:
these results allow us to propose Arabidopsis AtFH deficient lines as interesting models for investigate the biogenesis of Fe-S clusters, Fe-S- and heme-containing proteins; as well as for better understanding the FA human disease.
1Centro de Estudios Fotosintéticos y Bioquímicos (CEFOBI-CONICET), Universidad
Nacional de Rosario, Suipacha 531, 2000, Rosario, Argentina.
2Universidad Nacional de General San Martín (UNSAM), Av. Gral Paz 5445, San
Martín, Buenos Aires, Argentina.
Highlight:
these results allow us to propose Arabidopsis AtFH deficient lines as interesting models for investigate the biogenesis of Fe-S clusters, Fe-S- and heme-containing proteins; as well as for better understanding the FA human disease.
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