Immunocytochemical study of dystrophin in muscle cultures from patient with Duchenne muscular dystrophy and unaffected control patients

A. F. Miranda, E. Bonilla, G. Martucci, Carlos T Moraes, A. P. Hays, S. Dimauro

Research output: Contribution to journalArticle

69 Citations (Scopus)

Abstract

Using immunocytochemical methods, the localization of dystrophin, the gene product affected in Duchenne muscular dystrophy (DMD) in aneural, differentiating human muscle cultures, was studied. Dystrophin was not demonstrable in undifferentiated myoblasts from control patients and from two patients with DMD. After myoblast fusion, the protein was found in circumscribed sarcoplasmic patches, in the perinuclear area, and along the surface of all normal multinucleate myotubes, with more mature myotubes showing predominantly sarcolemmal distribution. There was no staining in myotubes from one DMD patient and only faint diffuse fluorescence in myotubes from the second affected boy, however. These data provide further evidence that dystrophin is a sarcolemma-associated protein, that it is developmentally regulated, and that it is absent or greatly reduced in quantity in skeletal muscle cultures from patients with DMD.

Original languageEnglish
Pages (from-to)410-416
Number of pages7
JournalAmerican Journal of Pathology
Volume132
Issue number3
StatePublished - Jan 1 1988
Externally publishedYes

Fingerprint

Dystrophin
Duchenne Muscular Dystrophy
Skeletal Muscle Fibers
Muscles
Myoblasts
Sarcolemma
Skeletal Muscle
Proteins
Fluorescence
Staining and Labeling
Genes

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Cite this

Immunocytochemical study of dystrophin in muscle cultures from patient with Duchenne muscular dystrophy and unaffected control patients. / Miranda, A. F.; Bonilla, E.; Martucci, G.; Moraes, Carlos T; Hays, A. P.; Dimauro, S.

In: American Journal of Pathology, Vol. 132, No. 3, 01.01.1988, p. 410-416.

Research output: Contribution to journalArticle

@article{5f959ee963254b92ad20a41d629f1d49,
title = "Immunocytochemical study of dystrophin in muscle cultures from patient with Duchenne muscular dystrophy and unaffected control patients",
abstract = "Using immunocytochemical methods, the localization of dystrophin, the gene product affected in Duchenne muscular dystrophy (DMD) in aneural, differentiating human muscle cultures, was studied. Dystrophin was not demonstrable in undifferentiated myoblasts from control patients and from two patients with DMD. After myoblast fusion, the protein was found in circumscribed sarcoplasmic patches, in the perinuclear area, and along the surface of all normal multinucleate myotubes, with more mature myotubes showing predominantly sarcolemmal distribution. There was no staining in myotubes from one DMD patient and only faint diffuse fluorescence in myotubes from the second affected boy, however. These data provide further evidence that dystrophin is a sarcolemma-associated protein, that it is developmentally regulated, and that it is absent or greatly reduced in quantity in skeletal muscle cultures from patients with DMD.",
author = "Miranda, {A. F.} and E. Bonilla and G. Martucci and Moraes, {Carlos T} and Hays, {A. P.} and S. Dimauro",
year = "1988",
month = "1",
day = "1",
language = "English",
volume = "132",
pages = "410--416",
journal = "American Journal of Pathology",
issn = "0002-9440",
publisher = "Elsevier Inc.",
number = "3",

}

TY - JOUR

T1 - Immunocytochemical study of dystrophin in muscle cultures from patient with Duchenne muscular dystrophy and unaffected control patients

AU - Miranda, A. F.

AU - Bonilla, E.

AU - Martucci, G.

AU - Moraes, Carlos T

AU - Hays, A. P.

AU - Dimauro, S.

PY - 1988/1/1

Y1 - 1988/1/1

N2 - Using immunocytochemical methods, the localization of dystrophin, the gene product affected in Duchenne muscular dystrophy (DMD) in aneural, differentiating human muscle cultures, was studied. Dystrophin was not demonstrable in undifferentiated myoblasts from control patients and from two patients with DMD. After myoblast fusion, the protein was found in circumscribed sarcoplasmic patches, in the perinuclear area, and along the surface of all normal multinucleate myotubes, with more mature myotubes showing predominantly sarcolemmal distribution. There was no staining in myotubes from one DMD patient and only faint diffuse fluorescence in myotubes from the second affected boy, however. These data provide further evidence that dystrophin is a sarcolemma-associated protein, that it is developmentally regulated, and that it is absent or greatly reduced in quantity in skeletal muscle cultures from patients with DMD.

AB - Using immunocytochemical methods, the localization of dystrophin, the gene product affected in Duchenne muscular dystrophy (DMD) in aneural, differentiating human muscle cultures, was studied. Dystrophin was not demonstrable in undifferentiated myoblasts from control patients and from two patients with DMD. After myoblast fusion, the protein was found in circumscribed sarcoplasmic patches, in the perinuclear area, and along the surface of all normal multinucleate myotubes, with more mature myotubes showing predominantly sarcolemmal distribution. There was no staining in myotubes from one DMD patient and only faint diffuse fluorescence in myotubes from the second affected boy, however. These data provide further evidence that dystrophin is a sarcolemma-associated protein, that it is developmentally regulated, and that it is absent or greatly reduced in quantity in skeletal muscle cultures from patients with DMD.

UR - http://www.scopus.com/inward/record.url?scp=0023783521&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0023783521&partnerID=8YFLogxK

M3 - Article

VL - 132

SP - 410

EP - 416

JO - American Journal of Pathology

JF - American Journal of Pathology

SN - 0002-9440

IS - 3

ER -