Abnormal expression of laminin suggests disturbance of sarcolemma-extracellular matrix interaction in Japanese patients with autosomal recessive muscular dystrophy deficient in adhalin.
Open Access
- 1 August 1994
- journal article
- case report
- Published by American Society for Clinical Investigation in Journal of Clinical Investigation
- Vol. 94 (2) , 601-606
- https://doi.org/10.1172/jci117375
Abstract
Dystrophin is associated with several novel sarcolemmal proteins, including a laminin-binding extracellular glycoprotein of 156 kD (alpha-dystroglycan) and a transmembrane glycoprotein of 50 kD (adhalin). Deficiency of adhalin characterizes a severe autosomal recessive muscular dystrophy prevalent in Arabs. Here we report for the first time two mongoloid (Japanese) patients with autosomal recessive muscular dystrophy deficient in adhalin. Interestingly, adhalin was not completely absent and was faintly detectable in a patchy distribution along the sarcolemma in our patients. Although the M and B2 subunits of laminin were preserved, the B1 subunit was greatly reduced in the basal lamina surrounding muscle fibers. Our results raise a possibility that the deficiency of adhalin may be associated with the disturbance of sarcolemma-extracellular matrix interaction leading to sarcolemmal instability.Keywords
This publication has 30 references indexed in Scilit:
- The laminin familyCurrent Opinion in Cell Biology, 1993
- Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12Human Molecular Genetics, 1993
- Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking COOH-terminal domains of dystrophin.Journal of Clinical Investigation, 1993
- Linkage of Tunisian autosomal recessive Duchenne–like muscular dystrophy to the pericentromeric region of chromosome 13qNature Genetics, 1992
- Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophyNature, 1992
- Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrixNature, 1992
- Membrane organization of the dystrophin-glycoprotein complexCell, 1991
- Association of dystrophin and an integral membrane glycoproteinNature, 1989
- Severe childhood muscular dystrophy affecting both sexes and frequent in tunisiaMuscle & Nerve, 1983
- Severe Autosomal Recessive Muscular Dystrophy in an Extended Sudanese KindredDevelopmental Medicine and Child Neurology, 1983