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

I Higuchi; Hiroki Yamada; H Fukunaga; H Iwaki; Ryuichi Okubo; Masanori Nakagawa; M Osame; Steven L Roberds; Teruo Shimizu; Kevin P Campbell; Kiichiro Matsumura

doi:10.1172/JCI117375

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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

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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, Hiroki Yamada, H Fukunaga, H Iwaki, Ryuichi Okubo, Masanori Nakagawa, M Osame, Steven L Roberds, Teruo Shimizu, Kevin P Campbell, …

The Journal of clinical investigation, Vol.94(2), pp.601-606

08/1994

DOI: 10.1172/JCI117375

PMCID: PMC296136

PMID: 8040315

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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.

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Title: Subtitle: Abnormal expression of laminin suggests disturbance of sarcolemma-extracellular matrix interaction in Japanese patients with autosomal recessive muscular dystrophy deficient in adhalin
Creators: I Higuchi - Third Department of Internal Medicine, Faculty of Medicine, Kagoshima University, Japan
Hiroki Yamada - Third Department of Internal Medicine, Faculty of Medicine, Kagoshima University, Japan
H Fukunaga - Third Department of Internal Medicine, Faculty of Medicine, Kagoshima University, Japan
H Iwaki - Third Department of Internal Medicine, Faculty of Medicine, Kagoshima University, Japan
Ryuichi Okubo - Third Department of Internal Medicine, Faculty of Medicine, Kagoshima University, Japan
Masanori Nakagawa - Third Department of Internal Medicine, Faculty of Medicine, Kagoshima University, Japan
M Osame - Third Department of Internal Medicine, Faculty of Medicine, Kagoshima University, Japan
Steven L Roberds - Third Department of Internal Medicine, Faculty of Medicine, Kagoshima University, Japan
Teruo Shimizu - Third Department of Internal Medicine, Faculty of Medicine, Kagoshima University, Japan
Kevin P Campbell - Third Department of Internal Medicine, Faculty of Medicine, Kagoshima University, Japan
Kiichiro Matsumura
Resource Type: Journal article
Publication Details: The Journal of clinical investigation, Vol.94(2), pp.601-606
DOI: 10.1172/JCI117375
PMID: 8040315
PMCID: PMC296136
ISSN: 0021-9738
eISSN: 1558-8238
Language: English
Date published: 08/1994
Academic Unit: Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
Record Identifier: 9984020707702771

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