Abnormal expression of laminin suggests disturbance of sarcolemma-extracellular matrix interaction in Japanese patients with autosomal recessive muscular dystrophy deficient in adhalin.

I Higuchi; H Yamada; H Fukunaga; H Iwaki; R Okubo; M Nakagawa; M Osame; S L Roberds; T Shimizu; K P Campbell

doi:10.1172/JCI117375

Third Department of Internal Medicine, Faculty of Medicine, Kagoshima University, Japan.

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Third Department of Internal Medicine, Faculty of Medicine, Kagoshima University, Japan.

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Third Department of Internal Medicine, Faculty of Medicine, Kagoshima University, Japan.

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Published in Volume 94, Issue 2 on August 1, 1994
J Clin Invest. 1994;94(2):601–606. https://doi.org/10.1172/JCI117375.
© 1994 The American Society for Clinical Investigation

Published August 1, 1994 - Version history

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.

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Abnormal expression of laminin suggests disturbance of sarcolemma-extracellular matrix interaction in Japanese patients with autosomal recessive muscular dystrophy deficient in adhalin.

I Higuchi, H Yamada, H Fukunaga, H Iwaki, R Okubo, M Nakagawa, M Osame, S L Roberds, T Shimizu, and K P Campbell

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Abnormal expression of laminin suggests disturbance of sarcolemma-extracellular matrix interaction in Japanese patients with autosomal recessive muscular dystrophy deficient in adhalin.

I Higuchi, H Yamada, H Fukunaga, H Iwaki, R Okubo, M Nakagawa, M Osame, S L Roberds, T Shimizu, and K P Campbell

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