Gene Therapy advance online publication 11 February 2010; doi: 10.1038/gt.2010.2
M M McMenamin1 and M J A Wood
Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK
Keywords: viral vectors, neurodegenerative disease, immune response, CNS, re-administration
Thursday, February 11, 2010
Wednesday, February 10, 2010
New hope in hunt for ataxia cure
theage.com.au
6:22AM Thu February 11, 2010
6:22AM Thu February 11, 2010
NICK MILLER -february 11, 2010
Teams from the University of Melbourne and the Monash Institute of Medical Research have made pluripotent stem cells from the skin of FA sufferers, .....read more
Frataxin, a molecule of mystery: trading stability for function in its iron-binding site
Biochem. J. (2010) 426 (e1–e3) (Printed in Great Britain)
Darius J. R. Lane* and Des R. Richardson†1
*Department of Biochemistry and Molecular Biology, School of Biomedical Sciences, Monash University, Melbourne, Victoria, 3800, Australia, and †Department of Pathology and Bosch Institute, Iron Metabolism and Chelation Program, Blackburn Building, University of Sydney, Sydney, New South Wales, 2006, Australia
Key words: frataxin, Friedreich's ataxia (FRDA), iron–sulfur cluster, Isu protein, mitochondrion, yeast frataxin (Yfh1).
Darius J. R. Lane* and Des R. Richardson†1
*Department of Biochemistry and Molecular Biology, School of Biomedical Sciences, Monash University, Melbourne, Victoria, 3800, Australia, and †Department of Pathology and Bosch Institute, Iron Metabolism and Chelation Program, Blackburn Building, University of Sydney, Sydney, New South Wales, 2006, Australia
Key words: frataxin, Friedreich's ataxia (FRDA), iron–sulfur cluster, Isu protein, mitochondrion, yeast frataxin (Yfh1).
Sunday, February 7, 2010
Overcoming frataxin gene silencing in Friedreich’s ataxia with small molecules: studies on cellular and animal models
Rai, Myriam.
F204 - Faculté de médecine - Sciences biomédicales
Doctorat en sciences biomédicales, Date de défense 2010-01-05
Keywords: frataxin, Friedreich's ataxia, chromatin, biomarker, histone deacetylase inhibitor.
F204 - Faculté de médecine - Sciences biomédicales
Doctorat en sciences biomédicales, Date de défense 2010-01-05
Keywords: frataxin, Friedreich's ataxia, chromatin, biomarker, histone deacetylase inhibitor.
Thursday, February 4, 2010
Diazoxide for the treatment of Friedreich's Ataxia
United States Patent Application 20100029576 Kind Code:A1
Inventors: Marobbio, Carlo Marya Thomas (Bari, IT) , Palmeri, Luigi (Bari, IT), Palmeri, Ferdinando (Bari, IT), Santoro, Antonella (Bari, IT)
Assignee: UNIVERSITA' DEGLI STUDI DI BARI (Bari, IT)
"A pharmaceutical preparation treats Friedreich's ataxia and treats or prevents pathologies related thereto"
"With the present invention it is therefore possible to increase the frataxin expression level."
Inventors: Marobbio, Carlo Marya Thomas (Bari, IT) , Palmeri, Luigi (Bari, IT), Palmeri, Ferdinando (Bari, IT), Santoro, Antonella (Bari, IT)
Assignee: UNIVERSITA' DEGLI STUDI DI BARI (Bari, IT)
"A pharmaceutical preparation treats Friedreich's ataxia and treats or prevents pathologies related thereto"
"With the present invention it is therefore possible to increase the frataxin expression level."
Pearls: Myelopathy
Semin Neurol. 2010 Feb;30(1):38-43. Epub 2010 Feb 1.
Kumar N.
Department of Neurology, Mayo Clinic, Rochester, Minnesota.
Keywords: disorders of the spinal cord, neuroimaging, serum antibody marker, demyelinating disease, multiple sclerosis, acquired copper deficiency, vitamin B (12) deficiency, hereditary myelopathies, Friedreich's ataxia, spastic paraparesis, leukodystrophy phenotype, adrenomyeloneuropathy.
Kumar N.
Department of Neurology, Mayo Clinic, Rochester, Minnesota.
Keywords: disorders of the spinal cord, neuroimaging, serum antibody marker, demyelinating disease, multiple sclerosis, acquired copper deficiency, vitamin B (12) deficiency, hereditary myelopathies, Friedreich's ataxia, spastic paraparesis, leukodystrophy phenotype, adrenomyeloneuropathy.
Wednesday, February 3, 2010
Clinical Guidelines on Best Practice
Charity rolls out new ataxia guidelines
National guidelines have been launched for the treatment and care of ataxia. The 50-page guidelines are now available free of charge from national charity Ataxia UK.
“Although more than 10,000 people in the UK have a type of ataxia, many doctors and medical professionals may not be aware of the condition or how to treat it,” said Dr Liz Harrison, Chair of Ataxia UK.
“From what our members tell us, there is a big need for the guidelines. Covering a wide range of topics including genetic testing, occupational therapy, and palliative care, we hope that any professionals with an interest in ataxia will take up the offer of a free copy.”
The guidelines have been drawn up with the help of neurologists, geneticists, and experts in other disciplines including speech and language therapy and physiotherapy. For the first time the guidelines have a section on occupational therapy that is accredited by the College of Occupational Therapy.
Dr Harrison said, “Improving treatment and care for people with ataxia is one of our main aims as a charity, along with funding research and supporting people who live with the condition. Although we are not a big charity, we believe the professional standard of our new guidelines shows that smaller groups can still influence and improve care.’
Ataxia UK also aims to roll out a system of accredited Ataxia Centres round the UK, and has just opened the third in Oxford. The model offers specialist clinics with neurologists and support from a dedicated Ataxia Nurse, with the aim of providing integrated care and referrals for ataxia patients.
Notes
• Ataxia means ‘lack of order’. People with ataxia have a type of degenerative neurological disorder that affects walking, speech, and co-ordination. Over 10,000 people in the UK have ataxia and there is currently no cure. A recent study showed that just 7% of the public know what ataxia is.
• Ataxia UK is the national charity for people affected by ataxia, providing support services and funding ground-breaking research. In the past five years they have spent over £3 million on research into treatments and a possible cure for ataxia, with several important breakthroughs. Charity no: 1102391 www.ataxia.org.uk
• Guidelines for the management and treatment of ataxia are available now from Ataxia UK, contact 020 7582 1444 or email research@ataxia.org.uk
For more information please Claire McGowan on 020 7587 3925 mob 0779 2214508 email cmcgowan@ataxia.org.uk
National guidelines have been launched for the treatment and care of ataxia. The 50-page guidelines are now available free of charge from national charity Ataxia UK.
“Although more than 10,000 people in the UK have a type of ataxia, many doctors and medical professionals may not be aware of the condition or how to treat it,” said Dr Liz Harrison, Chair of Ataxia UK.
“From what our members tell us, there is a big need for the guidelines. Covering a wide range of topics including genetic testing, occupational therapy, and palliative care, we hope that any professionals with an interest in ataxia will take up the offer of a free copy.”
The guidelines have been drawn up with the help of neurologists, geneticists, and experts in other disciplines including speech and language therapy and physiotherapy. For the first time the guidelines have a section on occupational therapy that is accredited by the College of Occupational Therapy.
Dr Harrison said, “Improving treatment and care for people with ataxia is one of our main aims as a charity, along with funding research and supporting people who live with the condition. Although we are not a big charity, we believe the professional standard of our new guidelines shows that smaller groups can still influence and improve care.’
Ataxia UK also aims to roll out a system of accredited Ataxia Centres round the UK, and has just opened the third in Oxford. The model offers specialist clinics with neurologists and support from a dedicated Ataxia Nurse, with the aim of providing integrated care and referrals for ataxia patients.
Notes
• Ataxia means ‘lack of order’. People with ataxia have a type of degenerative neurological disorder that affects walking, speech, and co-ordination. Over 10,000 people in the UK have ataxia and there is currently no cure. A recent study showed that just 7% of the public know what ataxia is.
• Ataxia UK is the national charity for people affected by ataxia, providing support services and funding ground-breaking research. In the past five years they have spent over £3 million on research into treatments and a possible cure for ataxia, with several important breakthroughs. Charity no: 1102391 www.ataxia.org.uk
• Guidelines for the management and treatment of ataxia are available now from Ataxia UK, contact 020 7582 1444 or email research@ataxia.org.uk
For more information please Claire McGowan on 020 7587 3925 mob 0779 2214508 email cmcgowan@ataxia.org.uk
Tuesday, February 2, 2010
Neuropatía auditiva, diagnóstico y manejo audiológico - Auditory neuropathy / dyssychrony, assessment and audiologic management
Rev. Otorrinolaringol. Cir. Cabeza Cuello 2009; 69: 271-280,
Oscar Cañete S1.
1 Tecnólogo Médico, Servicio de Otorrinolaringología, Hospital Padre Hurtado.
Palabras clave: Neuropatía auditiva, des sincronía auditiva, desorden del espectro de neuropatía auditiva, hipoacusia neural, hipoacusia en neonatos de riesgo, potenciales evocados de tronco, ataxia de Friedreich, Charcot-Marie-Tooth.
Keywords: Auditory neuropathy, Neural hearing loss, Auditory evoked potentials, Auditory Dyssynchrony. Hearing loss in high risk newborns, Friedreich's ataxia, Charcot-Marie-Tooth.
FULL TEXT (Spanish)
Oscar Cañete S1.
1 Tecnólogo Médico, Servicio de Otorrinolaringología, Hospital Padre Hurtado.
Palabras clave: Neuropatía auditiva, des sincronía auditiva, desorden del espectro de neuropatía auditiva, hipoacusia neural, hipoacusia en neonatos de riesgo, potenciales evocados de tronco, ataxia de Friedreich, Charcot-Marie-Tooth.
Keywords: Auditory neuropathy, Neural hearing loss, Auditory evoked potentials, Auditory Dyssynchrony. Hearing loss in high risk newborns, Friedreich's ataxia, Charcot-Marie-Tooth.
FULL TEXT (Spanish)
Rapid determination of tricarboxylic acid cycle enzyme activities in biological samples
BMC Biochemistry 2010, 11:5doi:10.1186/1471-2091-11-5
Sergio Goncalves , Vincent Paupe , Emmanuel P Dassa , Jean-Jacques Briere , Judith Favier , Anne-Paule Gimenez-Roqueplo , Paule Benit and Pierre Rustin
Published: 28 January 2010
OPEN ACCES
Abstract (provisional)
Background
In the last ten years, deficiencies in tricarboxylic acid cycle (TCAC) enzymes have been shown to cause a wide spectrum of human diseases, including malignancies and neurological and cardiac diseases. A prerequisite to the identification of disease-causing TCAC enzyme deficiencies is the availability of effective enzyme assays.
Results
We developed three assays that measure the full set of TCAC enzymes. One assay relies on the sequential addition of reagents to measure succinyl-CoA ligase activity, followed by succinate dehydrogenase, fumarase and, finally, malate dehydrogenase. Another assay measures the activity of -ketoglutarate dehydrogenase followed by aconitase and isocitrate dehydrogenase. The remaining assay measures citrate synthase activity using a standard procedure. We used these assays successfully on extracts of small numbers of human cells displaying various severe or partial TCAC deficiencies and on frozen heart homogenates from heterozygous mice harboring an SDHB gene deletion.
Conclusion
This set of assays is rapid and simple to use and can immediately detect even partial defects, as the activity of each enzyme can be readily compared with one or more other activities measured in the same sample.
FULL TEXT (pdf)
Sergio Goncalves , Vincent Paupe , Emmanuel P Dassa , Jean-Jacques Briere , Judith Favier , Anne-Paule Gimenez-Roqueplo , Paule Benit and Pierre Rustin
Published: 28 January 2010
OPEN ACCES
Abstract (provisional)
Background
In the last ten years, deficiencies in tricarboxylic acid cycle (TCAC) enzymes have been shown to cause a wide spectrum of human diseases, including malignancies and neurological and cardiac diseases. A prerequisite to the identification of disease-causing TCAC enzyme deficiencies is the availability of effective enzyme assays.
Results
We developed three assays that measure the full set of TCAC enzymes. One assay relies on the sequential addition of reagents to measure succinyl-CoA ligase activity, followed by succinate dehydrogenase, fumarase and, finally, malate dehydrogenase. Another assay measures the activity of -ketoglutarate dehydrogenase followed by aconitase and isocitrate dehydrogenase. The remaining assay measures citrate synthase activity using a standard procedure. We used these assays successfully on extracts of small numbers of human cells displaying various severe or partial TCAC deficiencies and on frozen heart homogenates from heterozygous mice harboring an SDHB gene deletion.
Conclusion
This set of assays is rapid and simple to use and can immediately detect even partial defects, as the activity of each enzyme can be readily compared with one or more other activities measured in the same sample.
FULL TEXT (pdf)
Sunday, January 31, 2010
NMR assignments of a stable processing intermediate of human frataxin
Biomolecular NMR Assignments, ISSN1874-2718 (Print) 1874-270X (Online), DOI10.1007/s12104-010-9209-x
Kalyan C. Kondapalli1, Krisztina Z. Bencze1, Eric Dizin2, James A. Cowan2 and Timothy L. Stemmler1
| (1) | Department of Biochemistry and Molecular Biology, Wayne State University School of Medicine, Detroit, MI 48201, USA |
| (2) | Evans Laboratory of Chemistry, Ohio State University, 100 West 18th Avenue, Columbus, OH 43210, USA |
Received: 25 September 2009 Accepted: 10 January 2010 Published online: 28 January 2010
Keywords: Friedreich’s ataxia - Iron chaperone - Frataxin - Iron-sulfur cluster biosynthesis - ISU
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