High-Throughput Immunoassay for the Biochemical Diagnosis of Friedreich Ataxia in Dried Blood Spots and Whole Blood. Devin Oglesbee, Charles Kroll, Oleksandr Gakh, Eric C. Deutsch, David R. Lynch, Ralitza Gavrilova, Silvia Tortorelli, Kimiyo Raymond, Dimitar Gavrilov, Piero Rinaldo, Dietrich Matern and Grazia Isaya; Clinical Chemistry clinchem.2013.207472 Published July 9, 2013.
Keywords: Friedreich ataxia (FRDA), frataxin (FXN), clinical diagnosis, therapeutic monitoring, population screening, immunoassay for measuring FXN.
Wednesday, July 10, 2013
Ferredoxin competes with bacterial frataxin in binding to the desulfurase IscS
Ferredoxin competes with bacterial frataxin in binding to the desulfurase IscS. Robert Yan, Petr V. Konarev, Clara Iannuzzi, Salvatore Adinolfi, Beatrice Roche, Geoff Kelly, Lea Simon, Stephen R. Martin, Beatrice Py, Frederic Barras, Dmitri I. Svergun, and Annalisa Pastore; J. Biol. Chem. jbc.M113.480327. First Published on July 9, 2013, doi:10.1074/jbc.M113.480327
Keywords: bacterial ISC operon, iron-sulfur cluster biogenesis, desulfurase IscS, ferredoxin, ferredoxin/IscS complex, frataxin.
Keywords: bacterial ISC operon, iron-sulfur cluster biogenesis, desulfurase IscS, ferredoxin, ferredoxin/IscS complex, frataxin.
Neurodegeneration in Friedreich’s Ataxia: From Defective Frataxin to Oxidative Stress
Neurodegeneration in Friedreich’s Ataxia: From Defective Frataxin to Oxidative Stress. Cláudio M. Gomes and Renata Santos; Oxidative Medicine and Cellular Longevity, vol. 2013, Article ID 487534, 10 pages, 2013. doi:10.1155/2013/487534
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OPEN ACCESS, FULL TEXT PDF
Longitudinal Strain in Friedreich Ataxia: A Potential Marker for Early Left Ventricular Dysfunction
Longitudinal Strain in Friedreich Ataxia: A Potential Marker for Early Left Ventricular Dysfunction. Martin St John Sutton, Bonnie Ky, Sean R. Regner, Kim Schadt, Ted Plappert, Jiwei He, Benjamin D'Souza and David R. Lynch; Echocardiography 2013;0:1–8, Article first published online: 9 JUL 2013 | DOI: 10.1111/echo.12287
Keywords: Friedreich ataxia, myocardial strain, speckle tracking echocardiography, left ventricular hypertrophy, heart failure
Keywords: Friedreich ataxia, myocardial strain, speckle tracking echocardiography, left ventricular hypertrophy, heart failure
Sunday, July 7, 2013
Genome instability studies could change treatment for cancer and other diseases
Genome instability studies could change treatment for cancer and other diseases. PENN State News, Huck Institutes of the Life Sciences, by Seth Palmer, July 1, 2013
Prior evolutionary studies have indicated that long microsatellites are biased towards a type of mutation known as repeat expansion, which increases the number of times that a DNA sequence is repeated and which is known to cause inherited disorders such as Huntington's Disease, myotonic dystrophy, fragile X syndrome type A, Friedreich's ataxia, and a number of spinocerebellar ataxias.
Prior evolutionary studies have indicated that long microsatellites are biased towards a type of mutation known as repeat expansion, which increases the number of times that a DNA sequence is repeated and which is known to cause inherited disorders such as Huntington's Disease, myotonic dystrophy, fragile X syndrome type A, Friedreich's ataxia, and a number of spinocerebellar ataxias.
Diagnosis and Genetic Counseling for Friedreich’s Ataxia: A time for consideration of TP-PCR in an Indian Setup
Diagnosis and Genetic Counseling for Friedreich’s Ataxia: A time for consideration of TP-PCR in an Indian Setup . Muthuswamy S, Agarwal S, Dalal AR; Hippokratia 2013, 17(1):38-41
Keywords: Triplet repeat primed-PCR, Friedreich’s ataxia, trinucleotide repeat disorder, genetic counseling, family screening
FULL TEXT PDF
Keywords: Triplet repeat primed-PCR, Friedreich’s ataxia, trinucleotide repeat disorder, genetic counseling, family screening
FULL TEXT PDF
Saturday, July 6, 2013
Histone deacetylases govern heterochromatin in every phase
Histone deacetylases govern heterochromatin in every phase. Yota Murakami, The EMBO Journal advance online publication 5 July 2013; doi:10.1038/emboj.2013.154; Published online: 5 July 2013
Deacetylation of histone tails has been shown to play a role during heterochromatin formation, but the precise mechanism of action has not been understood. Complementary results presented in two recent articles in The EMBO Journal (Alper et al, 2013; Buscaino et al, 2013) together reveal how histone deacetylases (HDACs) affect the various phases of heterochromatin formation: establishment, maintenance and spreading.
Deacetylation of histone tails has been shown to play a role during heterochromatin formation, but the precise mechanism of action has not been understood. Complementary results presented in two recent articles in The EMBO Journal (Alper et al, 2013; Buscaino et al, 2013) together reveal how histone deacetylases (HDACs) affect the various phases of heterochromatin formation: establishment, maintenance and spreading.
Thursday, July 4, 2013
MUNDUS project: MUltimodal Neuroprosthesis for daily Upper limb Support
MUNDUS project: MUltimodal Neuroprosthesis for daily Upper limb Support. Alessandra Pedrocchi, Simona Ferrante, Emilia Ambrosini, Marta Gandolla, Claudia Casellato, Thomas Schauer, Christian Klauer, Javier Pascual, Carmen Vidaurre, Margit Gfoehler, Werner Reichenfelser, Jakob Karner, Silvestro Micera, Andrea Crema, Franco Molteni, Mauro Rossini, Giovanna Palumbo, Eleonora Guanziroli, Andreas Jedlitschka, Marco Hack, Maria Bulgheroni, Enrico d¿Amico, Peter Schenk, Sven Zwicker, Alexander Duschau-Wicke, Justinas Miseikis, Lina Graber and Giancarlo Ferrigno; Journal of NeuroEngineering and Rehabilitation 2013, doi:10.1186/1743-0003-10-66, Published: 3 July 2013
Background
MUNDUS is an assistive framework for recovering direct interaction capability of severely motor impaired people based on arm reaching and hand functions. It aims at achieving personalization, modularity and maximization of the user's direct involvement in assistive systems. To this, MUNDUS exploits any residual control of the end-user and can be adapted to the level of severity or to the progression of the disease allowing the user to voluntarily interact with the environment. MUNDUS target pathologies are high-level spinal cord injury (SCI) and neurodegenerative and genetic neuromuscular diseases, such as amyotrophic lateral sclerosis, Friedreich ataxia, and multiple sclerosis (MS). The system can be alternatively driven by residual voluntary muscular activation, head/eye motion, and brain signals. MUNDUS modularly combines an antigravity lightweight and non-cumbersome exoskeleton, closed-loop controlled Neuromuscular Electrical Stimulation for arm and hand motion, and potentially a motorized hand orthosis, for grasping interactive objects.
OPEN ACCESS, Full text pdf
Background
MUNDUS is an assistive framework for recovering direct interaction capability of severely motor impaired people based on arm reaching and hand functions. It aims at achieving personalization, modularity and maximization of the user's direct involvement in assistive systems. To this, MUNDUS exploits any residual control of the end-user and can be adapted to the level of severity or to the progression of the disease allowing the user to voluntarily interact with the environment. MUNDUS target pathologies are high-level spinal cord injury (SCI) and neurodegenerative and genetic neuromuscular diseases, such as amyotrophic lateral sclerosis, Friedreich ataxia, and multiple sclerosis (MS). The system can be alternatively driven by residual voluntary muscular activation, head/eye motion, and brain signals. MUNDUS modularly combines an antigravity lightweight and non-cumbersome exoskeleton, closed-loop controlled Neuromuscular Electrical Stimulation for arm and hand motion, and potentially a motorized hand orthosis, for grasping interactive objects.
OPEN ACCESS, Full text pdf
Wednesday, July 3, 2013
Ataxie de Friedreich, La recherche progresse (English translation)
Translation courtesy of John Spencer. Thanks to Alex Bernard for authorizing publish the translation of the full text.
"Finding money for research is always a problem, "says researcher, Dr. Tremblay
Friedreich's ataxia is caused by a mutation in a related to the production of a protein called frataxin gene. Patients with this disease produce less frataxin which causes cell death. Normally, cells that die are replaced, except in the brain and heart. The disease therefore causes neural and cardiac symptoms in those who are affected.
The solution is to increase frataxin in patients and to get there, we evaluate different avenues, either by injecting frataxin in patients or by different techniques, including gene therapy by stimulating the production of the protein.
Dr. Tremblay came to interesting results, thanks to "Tale" proteins he got increases of 2 to 3 times the expression of frataxin with this approach. Patent applications have been filed on this technology.
"The great difficulty in the development of therapy is that it may be necessary to go into clinical trials. This can cost $ 1 to 2 million dollars for a single trial on a dozen patients. In this type of research, which we are always limited by budgets," says Dr. Tremblay.
When he does tests on animals, it can produce its own virus that costs a few thousand dollars. Conversely, when it is tested on humans should viruses highest quality are produced by only a handful of laboratories around the world.
Funding is difficult to find because the pharmaceutical companies have less interest in treating of orphan diseases and as a result, government agencies fund some research.
"I created an international consortium to promote gene therapy. One of our primary goals is to lobby governments to increase the amount of money spent on research for gene therapy because perhaps it could help develop treatments for many orphan diseases.
The researcher points out that the development of gene therapy is not limited only to orphan diseases, but it can contribute to treatments for many other afflictions, including cancer.
This therapy involves injecting a virus whose center core was replaced by part of genes. If we develop a virus to treat Friedreich's ataxia, it can also be used to treat diseases of vision, some hearing or lung disorders.
"I am very optimistic that we can develop treatments for Friedreich's ataxia. I hope to go to trial within 2 to 3 years, "expressed Dr. Tremblay. It still needs more work on his animal models to obtain the necessary approvals from Health Canada before he can move to clinical trials. But even with these authorizations, the research is dependent on the ability of Dr. Tremblay to find money.
Source:
Ataxie de Friedreich, La recherche progresse . Journal de Chambly, Par Alex Bernard, Mardi 2 juillet 2013 16:20:02 HAE
"Finding money for research is always a problem, "says researcher, Dr. Tremblay
Friedreich's ataxia is caused by a mutation in a related to the production of a protein called frataxin gene. Patients with this disease produce less frataxin which causes cell death. Normally, cells that die are replaced, except in the brain and heart. The disease therefore causes neural and cardiac symptoms in those who are affected.
The solution is to increase frataxin in patients and to get there, we evaluate different avenues, either by injecting frataxin in patients or by different techniques, including gene therapy by stimulating the production of the protein.
Dr. Tremblay came to interesting results, thanks to "Tale" proteins he got increases of 2 to 3 times the expression of frataxin with this approach. Patent applications have been filed on this technology.
"The great difficulty in the development of therapy is that it may be necessary to go into clinical trials. This can cost $ 1 to 2 million dollars for a single trial on a dozen patients. In this type of research, which we are always limited by budgets," says Dr. Tremblay.
When he does tests on animals, it can produce its own virus that costs a few thousand dollars. Conversely, when it is tested on humans should viruses highest quality are produced by only a handful of laboratories around the world.
Funding is difficult to find because the pharmaceutical companies have less interest in treating of orphan diseases and as a result, government agencies fund some research.
"I created an international consortium to promote gene therapy. One of our primary goals is to lobby governments to increase the amount of money spent on research for gene therapy because perhaps it could help develop treatments for many orphan diseases.
The researcher points out that the development of gene therapy is not limited only to orphan diseases, but it can contribute to treatments for many other afflictions, including cancer.
This therapy involves injecting a virus whose center core was replaced by part of genes. If we develop a virus to treat Friedreich's ataxia, it can also be used to treat diseases of vision, some hearing or lung disorders.
"I am very optimistic that we can develop treatments for Friedreich's ataxia. I hope to go to trial within 2 to 3 years, "expressed Dr. Tremblay. It still needs more work on his animal models to obtain the necessary approvals from Health Canada before he can move to clinical trials. But even with these authorizations, the research is dependent on the ability of Dr. Tremblay to find money.
Source:
Ataxie de Friedreich, La recherche progresse . Journal de Chambly, Par Alex Bernard, Mardi 2 juillet 2013 16:20:02 HAE
New treatments for mitochondrial disease—no time to drop our standards
New treatments for mitochondrial disease—no time to drop our standards. Gerald Pfeffer, Rita Horvath, Thomas Klopstock, Vamsi K. Mootha, Anu Suomalainen, Saskia Koene, Michio Hirano, Massimo Zeviani, Laurence A. Bindoff, Patrick Yu-Wai-Man, Michael Hanna, Valerio Carelli, Robert McFarland, Kari Majamaa, Douglas M. Turnbull, Jan Smeitink & Patrick F. Chinnery; Nature Reviews Neurology, 2013/07/02 advance online publication, doi:10.1038/nrneurol.2013.129
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