Variability in the ratio of mutant to wildtype myosin heavy chain present in the soleus muscle of patients with familial hypertrophic cardiomyopathy. A new approach for the quantification of mutant to wildtype protein
| Autor: | Volker Nier, Manfred Raida, Wolf-Georg Forssmann, Bernhard Brenner, Imke Schultz |
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| Rok vydání: | 1999 |
| Předmět: |
Heterozygote
Mutant Familiar hypertrophic cardiomyopathy Biophysics medicine.disease_cause Biochemistry Mass Spectrometry Structural Biology Myosin Genetics medicine Missense mutation β-Myosin heavy chain Humans Point Mutation Protein Isoforms Muscle Skeletal Molecular Biology Chromatography High Pressure Liquid Soleus muscle Mutation Myosin Heavy Chains Chemistry Wild type Electrophoresis Capillary Cell Biology Cardiomyopathy Hypertrophic Molecular biology Peptide Fragments Amino Acid Substitution MYH7 MYH6 |
| Zdroj: | FEBS letters. 461(3) |
| ISSN: | 0014-5793 |
| Popis: | The ratio of mutant to wildtype myosin heavy chain (beta-isoform, beta-MHC) in the soleus muscle of patients with familial hypertrophic cardiomyopathy was determined by a combination of HPLC, mass spectrometry and capillary zone electrophoresis. In two patients, one with a Val 606 Met mutation and another with a Gly 584 Arg mutation, the fraction of mutant beta-MHC was only 12+/-6% and 23+/-0.7% of total beta-MHC, respectively. These results demonstrate the necessity to determine the ratio of mutant to wildtype protein for the interpretation of functional studies on biopsy material from heterozygous patients with an inherited disease. |
| Databáze: | OpenAIRE |
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