McArdle's disease

Biochemical and molecular genetic studies

S. Servidei, S. Shanske, M. Zeviani, R. Lebo, R. Fletterick, S. DiMauro

Research output: Contribution to journalArticle

29 Citations (Scopus)

Abstract

We have analyzed muscle biopsy specimens from 48 patients with biochemically proven phosphorylase deficiency (McArdle's disease) by sodium dodecylsulphate polyacrylamide gel electrophoresis (SDS-PAGE), immunoblotting, and immunotitration (enzyme-linked immunosorbent assay [ELISA]). Thirty-five of the 42 patients studied by SDS-PAGE and immunoblot, and 41 of the 48 patients studied by ELISA had no detectable enzyme protein. Six patients had markedly decreased phosphorylase protein by all three assays, and only 1 patient had a normal amount of protein. No apparent correlation existed between the presence or absence of enzyme protein and the clinical presentation or muscle glycogen concentration. Northern analysis was performed on muscle RNA in 4 patients: messenger RNA was normal in 2, abnormally short in 1, and absent in the fourth, indicating heterogeneity of the molecular lesion in McArdle's disease.

Original languageEnglish
Pages (from-to)774-781
Number of pages8
JournalAnnals of Neurology
Volume24
Issue number6
Publication statusPublished - 1988

Fingerprint

Glycogen Storage Disease Type V
Molecular Biology
Phosphorylases
Muscles
Polyacrylamide Gel Electrophoresis
Proteins
Sodium
Enzyme-Linked Immunosorbent Assay
Deficiency Diseases
Enzymes
Glycogen
Immunoblotting
RNA
Biopsy
Messenger RNA

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Servidei, S., Shanske, S., Zeviani, M., Lebo, R., Fletterick, R., & DiMauro, S. (1988). McArdle's disease: Biochemical and molecular genetic studies. Annals of Neurology, 24(6), 774-781.

McArdle's disease : Biochemical and molecular genetic studies. / Servidei, S.; Shanske, S.; Zeviani, M.; Lebo, R.; Fletterick, R.; DiMauro, S.

In: Annals of Neurology, Vol. 24, No. 6, 1988, p. 774-781.

Research output: Contribution to journalArticle

Servidei, S, Shanske, S, Zeviani, M, Lebo, R, Fletterick, R & DiMauro, S 1988, 'McArdle's disease: Biochemical and molecular genetic studies', Annals of Neurology, vol. 24, no. 6, pp. 774-781.
Servidei S, Shanske S, Zeviani M, Lebo R, Fletterick R, DiMauro S. McArdle's disease: Biochemical and molecular genetic studies. Annals of Neurology. 1988;24(6):774-781.
Servidei, S. ; Shanske, S. ; Zeviani, M. ; Lebo, R. ; Fletterick, R. ; DiMauro, S. / McArdle's disease : Biochemical and molecular genetic studies. In: Annals of Neurology. 1988 ; Vol. 24, No. 6. pp. 774-781.
@article{e6766b70db5845268f4fdbc8f6cf7744,
title = "McArdle's disease: Biochemical and molecular genetic studies",
abstract = "We have analyzed muscle biopsy specimens from 48 patients with biochemically proven phosphorylase deficiency (McArdle's disease) by sodium dodecylsulphate polyacrylamide gel electrophoresis (SDS-PAGE), immunoblotting, and immunotitration (enzyme-linked immunosorbent assay [ELISA]). Thirty-five of the 42 patients studied by SDS-PAGE and immunoblot, and 41 of the 48 patients studied by ELISA had no detectable enzyme protein. Six patients had markedly decreased phosphorylase protein by all three assays, and only 1 patient had a normal amount of protein. No apparent correlation existed between the presence or absence of enzyme protein and the clinical presentation or muscle glycogen concentration. Northern analysis was performed on muscle RNA in 4 patients: messenger RNA was normal in 2, abnormally short in 1, and absent in the fourth, indicating heterogeneity of the molecular lesion in McArdle's disease.",
author = "S. Servidei and S. Shanske and M. Zeviani and R. Lebo and R. Fletterick and S. DiMauro",
year = "1988",
language = "English",
volume = "24",
pages = "774--781",
journal = "Annals of Neurology",
issn = "0364-5134",
publisher = "John Wiley and Sons Inc.",
number = "6",

}

TY - JOUR

T1 - McArdle's disease

T2 - Biochemical and molecular genetic studies

AU - Servidei, S.

AU - Shanske, S.

AU - Zeviani, M.

AU - Lebo, R.

AU - Fletterick, R.

AU - DiMauro, S.

PY - 1988

Y1 - 1988

N2 - We have analyzed muscle biopsy specimens from 48 patients with biochemically proven phosphorylase deficiency (McArdle's disease) by sodium dodecylsulphate polyacrylamide gel electrophoresis (SDS-PAGE), immunoblotting, and immunotitration (enzyme-linked immunosorbent assay [ELISA]). Thirty-five of the 42 patients studied by SDS-PAGE and immunoblot, and 41 of the 48 patients studied by ELISA had no detectable enzyme protein. Six patients had markedly decreased phosphorylase protein by all three assays, and only 1 patient had a normal amount of protein. No apparent correlation existed between the presence or absence of enzyme protein and the clinical presentation or muscle glycogen concentration. Northern analysis was performed on muscle RNA in 4 patients: messenger RNA was normal in 2, abnormally short in 1, and absent in the fourth, indicating heterogeneity of the molecular lesion in McArdle's disease.

AB - We have analyzed muscle biopsy specimens from 48 patients with biochemically proven phosphorylase deficiency (McArdle's disease) by sodium dodecylsulphate polyacrylamide gel electrophoresis (SDS-PAGE), immunoblotting, and immunotitration (enzyme-linked immunosorbent assay [ELISA]). Thirty-five of the 42 patients studied by SDS-PAGE and immunoblot, and 41 of the 48 patients studied by ELISA had no detectable enzyme protein. Six patients had markedly decreased phosphorylase protein by all three assays, and only 1 patient had a normal amount of protein. No apparent correlation existed between the presence or absence of enzyme protein and the clinical presentation or muscle glycogen concentration. Northern analysis was performed on muscle RNA in 4 patients: messenger RNA was normal in 2, abnormally short in 1, and absent in the fourth, indicating heterogeneity of the molecular lesion in McArdle's disease.

UR - http://www.scopus.com/inward/record.url?scp=0024230593&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0024230593&partnerID=8YFLogxK

M3 - Article

VL - 24

SP - 774

EP - 781

JO - Annals of Neurology

JF - Annals of Neurology

SN - 0364-5134

IS - 6

ER -