The Experts below are selected from a list of 15 Experts worldwide ranked by ideXlab platform
Charles T. Caskey - One of the best experts on this subject based on the ideXlab platform.
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expression and localization of dystrophin in human cardiac purkinje fibers
Circulation, 1992Co-Authors: Roger D. Bies, Deborah I Friedman, M. Benjamin Perryman, Robert Roberts, Charles T. CaskeyAbstract:BACKGROUND Mutations in the dystrophin gene produce clinical manifestations of disease in heart, brain, and skeletal muscle in patients with Duchenne and Beckers Muscular Dystrophy (DMD/BMD). Conduction disturbances and heart block contribute to cardiac decompensation in these patients, which suggests an important role for dystrophia in the cardiac conduction system. We therefore examined the messenger RNA (mRNA) expression and protein localization of dystrophin in normal human cardiac Purkinje fibers. METHODS AND RESULTS Polymerase chain reaction amplification of isolated Purkinje fiber complementary DNA identified several alternatively spliced mRNA transcripts encoding for carboxy-terminal isoforms of the dystrophin protein. The predominant mRNA transcript detected was a splice form previously detected in the brain. Antipeptide antibodies specific for a carboxy-terminal dystrophin sequence were used for Western blot analysis and immunocytochemical localization. These antisera detect approximately 400,000-d immunoreactive band or bands on Western blot in normal heart and Purkinje fibers but not in DMD heart. Immunocytochemical staining showed that dystrophin was localized to the membrane surface of the Purkinje fiber. CONCLUSIONS These results suggest that dystrophin may be an important molecule for membrane function in the Purkinje conduction system of the heart and support the hypothesis that defective dystrophin expression contributes to the cardiac conduction disturbances seen in DMD/BMD:
Roger D. Bies - One of the best experts on this subject based on the ideXlab platform.
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expression and localization of dystrophin in human cardiac purkinje fibers
Circulation, 1992Co-Authors: Roger D. Bies, Deborah I Friedman, M. Benjamin Perryman, Robert Roberts, Charles T. CaskeyAbstract:BACKGROUND Mutations in the dystrophin gene produce clinical manifestations of disease in heart, brain, and skeletal muscle in patients with Duchenne and Beckers Muscular Dystrophy (DMD/BMD). Conduction disturbances and heart block contribute to cardiac decompensation in these patients, which suggests an important role for dystrophia in the cardiac conduction system. We therefore examined the messenger RNA (mRNA) expression and protein localization of dystrophin in normal human cardiac Purkinje fibers. METHODS AND RESULTS Polymerase chain reaction amplification of isolated Purkinje fiber complementary DNA identified several alternatively spliced mRNA transcripts encoding for carboxy-terminal isoforms of the dystrophin protein. The predominant mRNA transcript detected was a splice form previously detected in the brain. Antipeptide antibodies specific for a carboxy-terminal dystrophin sequence were used for Western blot analysis and immunocytochemical localization. These antisera detect approximately 400,000-d immunoreactive band or bands on Western blot in normal heart and Purkinje fibers but not in DMD heart. Immunocytochemical staining showed that dystrophin was localized to the membrane surface of the Purkinje fiber. CONCLUSIONS These results suggest that dystrophin may be an important molecule for membrane function in the Purkinje conduction system of the heart and support the hypothesis that defective dystrophin expression contributes to the cardiac conduction disturbances seen in DMD/BMD:
Maeda Masato - One of the best experts on this subject based on the ideXlab platform.
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766-4 X-Linked Cardiomyopathy: Selective Deficiency of Dystrophin mRNA and Protein in the Heart
American College of Cardiology. Published by Elsevier Inc., 1995Co-Authors: Bies, Roger D., Holder Emma, Maeda MasatoAbstract:Mutations in the membrane associated cytoskeletal protein dystrophin is typically associated with Duchenne and Beckers Muscular Dystrophy. Insome cases dystrophin mutations appear causes a selective cardiomyopathy with little skeletal muscle disease. The molecular mechanisms which cause this phenotype have not been defined. We are particularly interested in how a mutation in a protein normally expressed in all muscle tissues can selectively cause disease in the heart. Most cardiomyopathic dystrophin mutations occur at the 5’ end of the gene. suggesting that regulatory elements may playa role in the cardiac specific phenotype. We have analyzed cardiac and skeletal muscle dystrophin mRNA and protein from a family with severe cardiomyopathy, and a 5’ duplication in exons 2–7 of the dystrophin gene. Sequence analysis of cDNA across the mutation site, showed no difference between heart and skeletal muscle transcripts. However, ribonuclease protection assay demonstrated markedly diminished dystrophin transcript in the heart. Western blot and immunocytochemistry showed marked reduction in cardiac dystrophin protein compared with skeletal muscle. These results demonstrate that mutations in the 5’ dystrophin gene can cause cardiomyopathy without significant muscle disease by a selective reduction of dystrophin gene expression in the heart
Christopher I. Morse - One of the best experts on this subject based on the ideXlab platform.
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Body maps.
2019Co-Authors: Matthew F. Jacques, Rachel C. Stockley, Emma I. Bostock, Jonathon Smith, Christian G. Degoede, Christopher I. MorseAbstract:Topographic presentation of reported pain frequency across four types of Muscular Dystrophy using a localised method. A = Anterior; B = Posterior; DMD = Duchenne Muscular Dystrophy; BMD = Beckers Muscular Dystrophy; LGMD = Limb-Girdle Muscular Dystrophy; FSHD = Facioscapulohumeral Muscular Dystrophy; CTRL = Control.
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VAS Pain Box-Plots.
2019Co-Authors: Matthew F. Jacques, Rachel C. Stockley, Emma I. Bostock, Jonathon Smith, Christian G. Degoede, Christopher I. MorseAbstract:Ο = Outlier; DMD = Duchenne Muscular Dystrophy; BMD = Beckers Muscular Dystrophy; LGMD = Limb-Girdle Muscular Dystrophy; FSHD = Facioscapulohumeral Muscular Dystrophy; CTRL = Control; Kg = Kilograms; B denotes significant difference from BMD; LG denotes significant difference from LGMD; F denotes significant difference from FSHD. C denotes significant difference from CTRL.
Deborah I Friedman - One of the best experts on this subject based on the ideXlab platform.
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expression and localization of dystrophin in human cardiac purkinje fibers
Circulation, 1992Co-Authors: Roger D. Bies, Deborah I Friedman, M. Benjamin Perryman, Robert Roberts, Charles T. CaskeyAbstract:BACKGROUND Mutations in the dystrophin gene produce clinical manifestations of disease in heart, brain, and skeletal muscle in patients with Duchenne and Beckers Muscular Dystrophy (DMD/BMD). Conduction disturbances and heart block contribute to cardiac decompensation in these patients, which suggests an important role for dystrophia in the cardiac conduction system. We therefore examined the messenger RNA (mRNA) expression and protein localization of dystrophin in normal human cardiac Purkinje fibers. METHODS AND RESULTS Polymerase chain reaction amplification of isolated Purkinje fiber complementary DNA identified several alternatively spliced mRNA transcripts encoding for carboxy-terminal isoforms of the dystrophin protein. The predominant mRNA transcript detected was a splice form previously detected in the brain. Antipeptide antibodies specific for a carboxy-terminal dystrophin sequence were used for Western blot analysis and immunocytochemical localization. These antisera detect approximately 400,000-d immunoreactive band or bands on Western blot in normal heart and Purkinje fibers but not in DMD heart. Immunocytochemical staining showed that dystrophin was localized to the membrane surface of the Purkinje fiber. CONCLUSIONS These results suggest that dystrophin may be an important molecule for membrane function in the Purkinje conduction system of the heart and support the hypothesis that defective dystrophin expression contributes to the cardiac conduction disturbances seen in DMD/BMD: