IUBMB Life. 2011 Nov 17. doi: 10.1002/iub.577. [Epub ahead of print]
Busi MV, Gomez-Casati DF.
Centro de Estudios Fotosintéticos y Bioquímicos (CEFOBI-CONICET), Universidad Nacional de Rosario, Suipacha 531, 2000, Rosario, Argentina and Instituto de Investigaciones Biotecnológicas (IIB-INTECH), Universidad Nacional de General San Martín (UNSAM), Argentina.
Keywords: Frataxin, nuclear-encoded mitochondrial protein, phenotype of Friedreich's ataxia, Fe-S cluster, heme synthesis, energy conversion, oxidative phosphorylation, iron handling, oxidative damage.
Saturday, November 19, 2011
Friday, November 18, 2011
Ophthalmic features of Friedreich ataxia
Eye , (18 November 2011) | doi:10.1038/eye.2011.291
Clinical Study
S Noval, I Contreras, I Sanz-Gallego, R K Manrique and J Arpa
"The study show that the visual pathway is affected in FRDA. However, in most patients there is no significant visual impairment"
Keywords: ocular abnormalities,Friedreich ataxia (FRDA), prospective cohort, extensive ophthalmologic examination, low-contrast Sloan letter charts test, retinal nerve fiber layer (RNFL) thickness analysis, optical coherence tomography (OCT).
Clinical Study
S Noval, I Contreras, I Sanz-Gallego, R K Manrique and J Arpa
"The study show that the visual pathway is affected in FRDA. However, in most patients there is no significant visual impairment"
Keywords: ocular abnormalities,Friedreich ataxia (FRDA), prospective cohort, extensive ophthalmologic examination, low-contrast Sloan letter charts test, retinal nerve fiber layer (RNFL) thickness analysis, optical coherence tomography (OCT).
Thursday, November 17, 2011
Primary and Secondary Drug Screening Assays for Friedreich Ataxia.
J Biomol Screen. 2011 Nov 15. [Epub ahead of print]
Cotticelli MG, Rasmussen L, Kushner NL, McKellip S, Sosa MI, Manouvakhova A, Feng S, White EL, Maddry JA, Heemskerk J, Oldt RJ, Surrey LF, Ochs R, Wilson RB.
Keywords: Friedreich ataxia (FRDA), neuro- and cardiodegenerative disorder, frataxin, decreased ISC assembly, mitochondrial iron accumulation, increased oxidative stress, tetrazolium dye WST-1, compounds screen.
Cotticelli MG, Rasmussen L, Kushner NL, McKellip S, Sosa MI, Manouvakhova A, Feng S, White EL, Maddry JA, Heemskerk J, Oldt RJ, Surrey LF, Ochs R, Wilson RB.
Keywords: Friedreich ataxia (FRDA), neuro- and cardiodegenerative disorder, frataxin, decreased ISC assembly, mitochondrial iron accumulation, increased oxidative stress, tetrazolium dye WST-1, compounds screen.
Towards a modern definition of vitamin E– evidence for a quinone hypothesis
Bioorganic & Medicinal Chemistry Letters, In Press, Accepted Manuscript, doi:10.1016/j.bmcl.2011.10.117
William D. Shrader a, Akiko Amagata a, Adam Barnes a, Andrew Hinman a, Orion Jankowski a, Edgar Lee a, Viktoria Kheifets a, Ryo Komatsuzaki a, Paul Mollard a, Katsuyuki Murase a, Patrice Rioux c, Kieron Wesson a, Guy Miller a, b
a Edison Pharmaceuticals, Inc., 350 North Bernardo Avenue, Mountain View, CA 94043, USA
b Adjunct Clinical Instructor;Department of Anesthesiology, Critical Care Medicine, Stanford University, Stanford, CA 94305, USA
c Raptor Pharmaceutical Corp. 9 Commercial Blvd., Suite 200 Novato, CA 94949
"has demonstrated a beneficial clinical response in patients with Friedreich’s ataxia"
Keywords: tocoquinone natural product, α-tocopherol quinone (ATQ), α-tocopherol,cellular protectant, oxidative stress, orally bioavailable, pharmacokinetic profile, Friedreich’s ataxia.
William D. Shrader a, Akiko Amagata a, Adam Barnes a, Andrew Hinman a, Orion Jankowski a, Edgar Lee a, Viktoria Kheifets a, Ryo Komatsuzaki a, Paul Mollard a, Katsuyuki Murase a, Patrice Rioux c, Kieron Wesson a, Guy Miller a, b
a Edison Pharmaceuticals, Inc., 350 North Bernardo Avenue, Mountain View, CA 94043, USA
b Adjunct Clinical Instructor;Department of Anesthesiology, Critical Care Medicine, Stanford University, Stanford, CA 94305, USA
c Raptor Pharmaceutical Corp. 9 Commercial Blvd., Suite 200 Novato, CA 94949
"has demonstrated a beneficial clinical response in patients with Friedreich’s ataxia"
Keywords: tocoquinone natural product, α-tocopherol quinone (ATQ), α-tocopherol,cellular protectant, oxidative stress, orally bioavailable, pharmacokinetic profile, Friedreich’s ataxia.
Tuesday, November 15, 2011
New orphan medicinal product designation for Friedreich's Ataxia
10 October 2011, EMA/COMP/811210/2011, Human Medicines Development and Evaluation,
Monthly report, The Committee for Orphan Medicinal Products held its 127th plenary meeting on 5-7 October 2011.
Interferon gamma for treatment of Friedreich’s ataxia, Prof. Roberto Testi.
Monthly report, The Committee for Orphan Medicinal Products held its 127th plenary meeting on 5-7 October 2011.
Interferon gamma for treatment of Friedreich’s ataxia, Prof. Roberto Testi.
Hepatic mitochondrial dysfunction in Friedreich Ataxia
BMC Neurology 2011, 11:145 doi:10.1186/1471-2377-11-145
OPEN ACCESS
Sven H Stüwe1, Oliver Goetze2,3, Larissa Arning4, Matthias Banasch2, Wolfgang E Schmidt2, Ludger Schöls5, 6,Carsten Saft1
1 Department of Neurology, Ruhr-University, St. Josef-Hospital, Bochum, Germany
2 Department of Internal Medicine I, Ruhr-University, St. Josef-Hospital, Bochum, Germany
3 Division of Gastroenterology and Hepatology, University Hospital Zurich, Switzerland
4 Department of Human Genetics, Ruhr-University Bochum, Germany
5 Department of Neurology and Hertie Institute for Clinical Brain Research, Tübingen, Germany
6 German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany
Abstract
Background: Mitochondrial dysfunction due to respiratory chain impairment is a key feature in pathogenesis of Friedreich ataxia. Friedreich ataxia affects the nervous system, heart and pancreas.
Methods: We assessed hepatic mitochondrial function by 13C-methionine-breath-test in 16 Friedreich ataxia patients and matched healthy controls.
Results: Patients exhaled significantly smaller amounts of 13CO2 over 90 minutes. Maximal exhaled percentage dose of 13CO2 recovery was reduced compared to controls.
Conclusions: 13C-methionine-breath-test indicates subclinical hepatic mitochondrial
dysfunction in Friedreich ataxia but did not correlate with GAA repeat lengths, disease duration or disease severity.
OPEN ACCESS
Sven H Stüwe1, Oliver Goetze2,3, Larissa Arning4, Matthias Banasch2, Wolfgang E Schmidt2, Ludger Schöls5, 6,Carsten Saft1
1 Department of Neurology, Ruhr-University, St. Josef-Hospital, Bochum, Germany
2 Department of Internal Medicine I, Ruhr-University, St. Josef-Hospital, Bochum, Germany
3 Division of Gastroenterology and Hepatology, University Hospital Zurich, Switzerland
4 Department of Human Genetics, Ruhr-University Bochum, Germany
5 Department of Neurology and Hertie Institute for Clinical Brain Research, Tübingen, Germany
6 German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany
Abstract
Background: Mitochondrial dysfunction due to respiratory chain impairment is a key feature in pathogenesis of Friedreich ataxia. Friedreich ataxia affects the nervous system, heart and pancreas.
Methods: We assessed hepatic mitochondrial function by 13C-methionine-breath-test in 16 Friedreich ataxia patients and matched healthy controls.
Results: Patients exhaled significantly smaller amounts of 13CO2 over 90 minutes. Maximal exhaled percentage dose of 13CO2 recovery was reduced compared to controls.
Conclusions: 13C-methionine-breath-test indicates subclinical hepatic mitochondrial
dysfunction in Friedreich ataxia but did not correlate with GAA repeat lengths, disease duration or disease severity.
Saturday, November 12, 2011
Changes in mitochondrial glutathione levels and protein thiol oxidation in Δyfh1 yeast cells and the lymphoblasts of patients with Friedreich ataxia
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, Available online 11 November 2011, doi:10.1016/j.bbadis.2011.11.003
A.L. Bulteau, S. Planamente, L. Jornea, A. Dur, E. Lesuisse, J.M. Camadro, F. Auchère
Keywords: Friedreich's ataxia; glutathione; iron; mitochondria; thiol oxidation; protein glutathionylation
A.L. Bulteau, S. Planamente, L. Jornea, A. Dur, E. Lesuisse, J.M. Camadro, F. Auchère
Keywords: Friedreich's ataxia; glutathione; iron; mitochondria; thiol oxidation; protein glutathionylation
Friday, November 11, 2011
DNA TRIPLEX STRUCTURES IN HUMAN DISEASE
Rajeswari R. Moganty
Department of Biochemistry, All India Institute of Medical Sciences, New Delhi-110029
KEYWORS: “unusual” DNA structure, human hereditary disorders, the triplet repeat expansion (TRE), Friedreich's ataxia, GAA repeats, Frataxin gene.
Department of Biochemistry, All India Institute of Medical Sciences, New Delhi-110029
KEYWORS: “unusual” DNA structure, human hereditary disorders, the triplet repeat expansion (TRE), Friedreich's ataxia, GAA repeats, Frataxin gene.
Analysis of Echocardiograms in a Large Heterogeneous Cohort of Patients With Friedreich Ataxia
The American Journal of Cardiology, , Available online 10 November 2011, doi:10.1016/j.amjcard.2011.09.025
Sean R. Regner, Sarah J. Lagedrost, Ted Plappert, Erin K. Paulsen, Lisa S. Friedman, Madeline L. Snyder, Susan L. Perlman, Katherine D. Mathews, George R. Wilmot, Kimberly A. Schadt, Martin St. John Sutton, David R. Lynch
Keywords: Friedreich ataxia (FA), cardiomyopathy, echocardiograms, disease duration, subject age, age of onset, functional disability score, GAA repeat length, systolic dysfunction, diastolic dysfunction, hypertrophy.
Sean R. Regner, Sarah J. Lagedrost, Ted Plappert, Erin K. Paulsen, Lisa S. Friedman, Madeline L. Snyder, Susan L. Perlman, Katherine D. Mathews, George R. Wilmot, Kimberly A. Schadt, Martin St. John Sutton, David R. Lynch
Keywords: Friedreich ataxia (FA), cardiomyopathy, echocardiograms, disease duration, subject age, age of onset, functional disability score, GAA repeat length, systolic dysfunction, diastolic dysfunction, hypertrophy.
Annual change in Friedreich's ataxia evaluated by the scale for the assessment and rating of ataxia (SARA) is independent of disease severity
Movement Disorders. doi: 10.1002/mds.23879, Article first published online: 10 NOV 2011
Marelli, C., Figoni, J., Charles, P., Anheim, M., Tchikviladze, M., Vincitorio, C.-M., du Montcel, S. T., Brice, A., Golmard, J. L. and Dürr, A.
"In future therapeutic trials no patient stratification is globally required."
Keywords: Friedreich's ataxia, SARA, clinical rating scale, disease progression
Marelli, C., Figoni, J., Charles, P., Anheim, M., Tchikviladze, M., Vincitorio, C.-M., du Montcel, S. T., Brice, A., Golmard, J. L. and Dürr, A.
"In future therapeutic trials no patient stratification is globally required."
Keywords: Friedreich's ataxia, SARA, clinical rating scale, disease progression
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