Membrane function affected by genetic muscular dystrophy
| Autor: | Susheela L. Iyer, Anne P. Sherblom, Peter A. Hoenig, John L. Howland |
|---|---|
| Rok vydání: | 1977 |
| Předmět: |
chemistry.chemical_classification
medicine.medical_specialty Duchenne muscular dystrophy Heterozygote advantage Biology medicine.disease Biochemistry Myotonic dystrophy Enzyme activator Endocrinology Membrane Enzyme chemistry Internal medicine medicine lipids (amino acids peptides and proteins) Muscular dystrophy Protein kinase A |
| Zdroj: | Biochemical Medicine. 18:384-391 |
| ISSN: | 0006-2944 |
| DOI: | 10.1016/0006-2944(77)90074-6 |
| Popis: | Erythrocyte membranes isolated from individuals with myotonic dystrophy exhibit elevated protein kinase activity when compared to those from normal individuals. In contrast, membranes from patients with Duchenne muscular dystrophy and from heterozygous carriers of that condition exhibit activity within normal limits. Activity in the myotonic case shows an altered temperature dependency (Arrhenius plot), suggesting that altered activity reflects an abnormal lipid environment in the region around the enzyme. This conclusion is supported by altered activity on addition of a lipid extract from serum of myotonic patients as well as certain purified lipids, notably phospholipids. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|