Fukuyama-type congenital muscular dystrophy: close relation between changes in the muscle basal lamina and plasma membrane.
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 alpha2 subunit was seen along with aberrant expression of laminin alpha5 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.
Matsubara
S
S
Department of Neurology, Tokyo Metropolitan Neurological Hospital, Fuchu, Japan. mtbrs@tmin.ac.jp
Mizuno
Y
Y
Kitaguchi
T
T
Isozaki
E
E
Miyamoto
K
K
Hirai
S
S
D000328:Adult; D001706:Biopsy; D002462:Cell Membrane / Q000473:pathology; D002648:Child; D015938:Complement Membrane Attack Complex / Q000032:analysis; D003598:Cytoskeletal Proteins / Q000032:analysis; D049030:Dystroglycans; D016189:Dystrophin / Q000032:analysis; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D007797:Laminin / Q000032:analysis; D008297:Male; D008562:Membrane Glycoproteins / Q000032:analysis; D008565:Membrane Proteins / Q000032:analysis; D008875:Middle Aged; D009124:Muscle Proteins / Q000032:analysis*; D018482:Muscle, Skeletal / Q000473:pathology*; D009136:Muscular Dystrophies / Q000151:congenital / Q000473:pathology*; D019006:Neural Cell Adhesion Molecules / Q000032:analysis; D049031:Sarcoglycans; D013049:Spectrin / Q000032:analysis; D049411:Utrophin
D015938:Complement Membrane Attack Complex; D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; D016189:Dystrophin; D007797:Laminin; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D009124:Muscle Proteins; D019006:Neural Cell Adhesion Molecules; D049031:Sarcoglycans; D049411:Utrophin; D013049:Spectrin; D049030:Dystroglycans