J. Biol. Chem. jbc.M110.163253First Published on December 28, 2010, doi:10.1074/jbc.M110.163253
Alexandra Seguin, Renata Santos, Debkumar Pain, Andrew Dancis, Jean-Michel Camadro, Emmanuel Lesuisse
Institut Jacques Monod, France; University of Medicine and Dentistry of New Jersey, United States; University of Pennsylvania, United States
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Thursday, December 30, 2010
Enfermedad cardiovascular en pacientes cubanos afectados por Ataxia de Friedreich.
Cardiovascular disease in Cuban patients affected by Friedreich's ataxia. (full text in Spanish)
Revista Electrónica "Ciencias Holguín", Año XVI, No. 4, Mes Diciembre 2010, ISSN 1027-2127.
Dra. Tania Cruz Mariño. Dra. Ana Luz Portelles Caminero. Dr. William Áreas Zalazar. Dr. Luis Velázquez Pérez.
ABSTRACT
In describing the Friedreich's ataxia, Nicholaus referred to cardiac disease. This autosomal recessive disease is due to dynamic mutation in the FRDA gene, encoding the protein frataxin deficiency, leading to oxidative stress and cardiac cell death. This research was conducted in order to describe the cardiovascular abnormalities present in Cuban patients affected by Friedreich's ataxia. Individuals with confirmatory molecular diagnosis of the disease underwent electrocardiogram, echocardiogram, and clinical assessment by internationally validated scales: ICARS and SARA. Ventricular re-polarization disorders diffuse intra-atrial conduction disturbances and disorders of diastolic function were common findings. The restrictive pattern appreciated provides live evidence that the disease leads to left ventricular diastolic dysfunction. The occurrence of a silent acute myocardial infarction indicates the importance of identifying emerging forms of myocardial involvement.
KEY WORDS: FRIEDREICH'S ATAXIA; HEREDITARY ATAXIA; CARDIOMYOPATHY; MYOCARDIAL INFARCTION.
Revista Electrónica "Ciencias Holguín", Año XVI, No. 4, Mes Diciembre 2010, ISSN 1027-2127.
Dra. Tania Cruz Mariño. Dra. Ana Luz Portelles Caminero. Dr. William Áreas Zalazar. Dr. Luis Velázquez Pérez.
ABSTRACT
In describing the Friedreich's ataxia, Nicholaus referred to cardiac disease. This autosomal recessive disease is due to dynamic mutation in the FRDA gene, encoding the protein frataxin deficiency, leading to oxidative stress and cardiac cell death. This research was conducted in order to describe the cardiovascular abnormalities present in Cuban patients affected by Friedreich's ataxia. Individuals with confirmatory molecular diagnosis of the disease underwent electrocardiogram, echocardiogram, and clinical assessment by internationally validated scales: ICARS and SARA. Ventricular re-polarization disorders diffuse intra-atrial conduction disturbances and disorders of diastolic function were common findings. The restrictive pattern appreciated provides live evidence that the disease leads to left ventricular diastolic dysfunction. The occurrence of a silent acute myocardial infarction indicates the importance of identifying emerging forms of myocardial involvement.
KEY WORDS: FRIEDREICH'S ATAXIA; HEREDITARY ATAXIA; CARDIOMYOPATHY; MYOCARDIAL INFARCTION.
Saturday, December 25, 2010
Generation of Induced Pluripotent Stem Cell Lines from Friedreich Ataxia Patients.
Stem Cell Rev. 2010 Dec 22.
Liu J, Verma PJ, Evans-Galea MV, Delatycki MB, Michalska A, Leung J, Crombie D, Sarsero JP, Williamson R, Dottori M, Pébay A.
Centre for Reproduction and Development, Monash Institute of Medical Research, Monash University, Melbourne, Australia,
Keywords: Friedreich ataxia (FRDA), neurodegeneration, cardiomyopathy, trinucleotide (GAA) repeat expansion, FXN gene, frataxin, induced pluripotent stem (iPS) cell lines, skin fibroblasts, pluripotent, peripheral neurons, cardiomyocytes, models, human BAC, immunocompatible cells, transplantation therapy.
Liu J, Verma PJ, Evans-Galea MV, Delatycki MB, Michalska A, Leung J, Crombie D, Sarsero JP, Williamson R, Dottori M, Pébay A.
Centre for Reproduction and Development, Monash Institute of Medical Research, Monash University, Melbourne, Australia,
Keywords: Friedreich ataxia (FRDA), neurodegeneration, cardiomyopathy, trinucleotide (GAA) repeat expansion, FXN gene, frataxin, induced pluripotent stem (iPS) cell lines, skin fibroblasts, pluripotent, peripheral neurons, cardiomyocytes, models, human BAC, immunocompatible cells, transplantation therapy.
Thursday, December 23, 2010
PREIMPLANTATION GENETIC DIAGNOSIS (PGD)
Important Info: Although it is a private center information, explains very well the technique, in layman's language ,I do not try in any way publicize the medical center.
PREIMPLANTATION GENETIC DIAGNOSIS (PGD) Patient Information
Some couples are at risk of transmitting an inherited disease to their children. One of the couple may be affected by this disease, or they each may carry a mutation, which if both were inherited by a child would cause the disease. Preimplantation genetic diagnosis (PGD) is a way of detecting a specific disease-causing genetic mutation within an embryo before it is transferred to the womb and forms a pregnancy.
PREIMPLANTATION GENETIC DIAGNOSIS (PGD) Patient Information
Some couples are at risk of transmitting an inherited disease to their children. One of the couple may be affected by this disease, or they each may carry a mutation, which if both were inherited by a child would cause the disease. Preimplantation genetic diagnosis (PGD) is a way of detecting a specific disease-causing genetic mutation within an embryo before it is transferred to the womb and forms a pregnancy.
Rare diseases, orphan drugs and their regulation: questions and misconceptions
Nature Reviews Drug Discovery 9, 921-929 (December 2010) | doi:10.1038/nrd3275
Erik Tambuyzer
Sustained advocacy efforts driven by patients' organizations to make rare diseases a health priority have led to regulatory and economic incentives for .....
Erik Tambuyzer
Sustained advocacy efforts driven by patients' organizations to make rare diseases a health priority have led to regulatory and economic incentives for .....
Saturday, December 18, 2010
Iron-dependent functions of mitochondria-relation to neurodegeneration.
J Neural Transm. 2010 Dec 15.
Gille G, Reichmann H.
Klinik und Poliklinik für Neurologie, TU Dresden, Fetscherstr. 74, 01307, Dresden, Germany
Keywords: neurodegenerative diseases, iron dyshomeostasis, mitochondrial dysfunction, physiological role of iron in mitochondria, Friedreich ataxia (FRDA),idiopathic Parkinson disease (PD), respiratory chain, iron-sulphur clusters, cytochromes, aconitase, frataxin gene, frataxin, reactive oxygen species.
Gille G, Reichmann H.
Klinik und Poliklinik für Neurologie, TU Dresden, Fetscherstr. 74, 01307, Dresden, Germany
Keywords: neurodegenerative diseases, iron dyshomeostasis, mitochondrial dysfunction, physiological role of iron in mitochondria, Friedreich ataxia (FRDA),idiopathic Parkinson disease (PD), respiratory chain, iron-sulphur clusters, cytochromes, aconitase, frataxin gene, frataxin, reactive oxygen species.
Friday, December 17, 2010
Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndrome.
Eur Heart J. 2010 Dec 14. [Epub ahead of print]
Raman SV, Phatak K, Hoyle JC, Pennell ML, McCarthy B, Tran T, Prior TW, Olesik JW, Lutton A, Rankin C, Kissel JT, Al-Dahhak R.
The Ohio State University, 473 W. 12th Ave, Suite 200, Columbus, OH 43210, USA.
Keywords: Cardiomyopathy, Friedreich ataxia (FA), fibrosis, cardiac magnetic resonance with adenosine, precontrast imaging, myocardial iron estimation, myocardial perfusion reserve index (MPRI), left ventricular (LV) mass, left ventricular ejection fraction.
Raman SV, Phatak K, Hoyle JC, Pennell ML, McCarthy B, Tran T, Prior TW, Olesik JW, Lutton A, Rankin C, Kissel JT, Al-Dahhak R.
The Ohio State University, 473 W. 12th Ave, Suite 200, Columbus, OH 43210, USA.
Keywords: Cardiomyopathy, Friedreich ataxia (FA), fibrosis, cardiac magnetic resonance with adenosine, precontrast imaging, myocardial iron estimation, myocardial perfusion reserve index (MPRI), left ventricular (LV) mass, left ventricular ejection fraction.
Thursday, December 16, 2010
Connecting Variability in Global Transcription Rate to Mitochondrial Variability
PLOS Biology, Dec 14, 2010 (publication date)
Ricardo Pires das Neves1,2,3, Nick S. Jones4, Lorena Andreu1, Rajeev Gupta1, Tariq Enver1, Francisco J. Iborra1,5*
1 Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom, 2 Biocant Center of Innovation and Biotechnology, Cantanhede, Portugal, 3 Center for Neuroscience and Cell Biology University of Coimbra, Coimbra, Portugal, 4 Department of Physics and Biochemistry, Oxford Centre for Integrative Systems Biology, CABDyN Complexity Centre, Oxford, United Kingdom, 5 Department of Molecular and Cellular Biology, Centro Nacional de Biotecnología, Consejo Superior de Investigaciones Científicas, Madrid, Spain
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Ricardo Pires das Neves1,2,3, Nick S. Jones4, Lorena Andreu1, Rajeev Gupta1, Tariq Enver1, Francisco J. Iborra1,5*
1 Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom, 2 Biocant Center of Innovation and Biotechnology, Cantanhede, Portugal, 3 Center for Neuroscience and Cell Biology University of Coimbra, Coimbra, Portugal, 4 Department of Physics and Biochemistry, Oxford Centre for Integrative Systems Biology, CABDyN Complexity Centre, Oxford, United Kingdom, 5 Department of Molecular and Cellular Biology, Centro Nacional de Biotecnología, Consejo Superior de Investigaciones Científicas, Madrid, Spain
FULL TEXT PDF
A Decrementing Form of Plasticity Apparent in Cerebellar Learning
The Journal of Neuroscience, December 15, 2010, 30(50):16993-17003; doi:10.1523/JNEUROSCI.2455-10.2010
Tatsuya Ohyama,1 Horatiu Voicu,3 Brian Kalmbach,1 and Michael D. Mauk1,2
1Center for Learning and Memory and 2Section of Neurobiology, The University of Texas at Austin, Austin, Texas 78712-0805, and 3Department of Neurobiology and Anatomy, The University of Texas-Houston Health Science Center, Houston, Texas 77030
" These results demonstrate the utility of eyelid conditioning as a means to identify and characterize the rules that govern input to output transformations in the cerebellum."
Tatsuya Ohyama,1 Horatiu Voicu,3 Brian Kalmbach,1 and Michael D. Mauk1,2
1Center for Learning and Memory and 2Section of Neurobiology, The University of Texas at Austin, Austin, Texas 78712-0805, and 3Department of Neurobiology and Anatomy, The University of Texas-Houston Health Science Center, Houston, Texas 77030
" These results demonstrate the utility of eyelid conditioning as a means to identify and characterize the rules that govern input to output transformations in the cerebellum."
Wednesday, December 15, 2010
The value of Arabidopsis research in understanding human disease states.
Curr Opin Biotechnol. 2010 Dec 6.
Xu XM, Møller SG.
Centre for Organelle Research, Faculty of Science and Technology, University of Stavanger, Norway.
Keywords: Arabidopsis thaliana, understand molecular mechanisms, human disease, neurodegenerative disorders, Alzheimer's, Parkinson's, Friedreich Ataxia.
Xu XM, Møller SG.
Centre for Organelle Research, Faculty of Science and Technology, University of Stavanger, Norway.
Keywords: Arabidopsis thaliana, understand molecular mechanisms, human disease, neurodegenerative disorders, Alzheimer's, Parkinson's, Friedreich Ataxia.
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