Fukuyama-type congenital muscular dystrophy: close relation between changes in the muscle basal lamina and plasma membrane
| Autor: | Shunsaku Hirai, Kazuhito Miyamoto, Eiji Isozaki, Shiro Matsubara, Tetsuo Kitaguchi, Yoshihiko Mizuno |
|---|---|
| Rok vydání: | 1999 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Utrophin Biopsy Muscle Proteins Complement Membrane Attack Complex Muscular Dystrophies Dystrophin Laminin Sarcoglycans medicine Humans Myocyte Child Dystroglycans Muscle Skeletal Neural Cell Adhesion Molecules Genetics (clinical) Membrane Glycoproteins biology Cell Membrane Infant Membrane Proteins Spectrin Middle Aged medicine.disease Immunohistochemistry Cytoskeletal Proteins medicine.anatomical_structure Neurology Pediatrics Perinatology and Child Health biology.protein Congenital muscular dystrophy Female Neural cell adhesion molecule Basal lamina Neurology (clinical) ITGA7 |
| Zdroj: | Neuromuscular Disorders. 9:388-398 |
| ISSN: | 0960-8966 |
| DOI: | 10.1016/s0960-8966(99)00049-8 |
| Popis: | Despite the recent advance in genetic study of Fukuyama-type congenital muscular dystrophy (FCMD), the mechanism of muscle degeneration in the disease remains unclear. To clarify it, muscle biopsies from six cases of FCMD were subjected to immunohistochemical and ultrastructural studies. On the muscle cell surface, decreased expression of laminin α 2 subunit was seen along with aberrant expression of laminin α 5 and neural cell adhesion molecule. Electron microscopy revealed breach of muscle basal lamina. The electron density of plasma membrane was significantly lower at the places without identifiable basal lamina. Thus in FCMD changes of laminin and other proteins on the cell surface involve a process common to developing muscles, and loss of normal structure of the basal lamina is closely associated with changes of the plasma membrane. This suggests that the primary cause of FCMD is related to formation and maintenance of the basal lamina. |
| Databáze: | OpenAIRE |
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