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Impairment of capping in lymphoblastoid cell lines of Duchenne patients indicates an intrinsic cellular defect

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Summary

Duchenne muscular dystrophy (DMD) is a lethal sex-linked degenerative disorder of the muscle in man. Generalized cell membrane abnormalities seem to be involved in the pathogenesis of the disease; in particular, the impairment of lymphocyte capping capacities has been repeatedly confimed. To clarify whether capping impairment is a consequence of factors related to the activity of the disease or an expression of an intrinsic cellular defect, we have investigated the capping capacities of DMD EBV-transformed cell lines. The results indicate a significant impairment of capping capacity in cultured cell lines, providing evidence for an intrinsic cell deficiency in DMD.

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References

  1. Burghes AH, Logan C, Hu X, Belfall B, Worton RG, Ray PN (1987) A cDNA clone from the Duchenne/Becker muscular dystrophy gene. Nature 328:434–437

  2. Chelly J, Kaplan JC, Maire P, Gautron S, Kahn A (1988) Transcription of the dystrophin gene in human muscle and non-muscle tissues. Nature 333:858–860

  3. Goldsmith BM, Greumer HD (1987) Systemic membrane defect and the inhibition of lymphocyte capping in Duchenne muscular dystrophy. Clin Chim Acta 164:33–46

  4. Hoffman EP, Brown HR, Kunkel LM (1987a) Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51:919–928

  5. Hoffman EP, Knudson CM, Campbell KD, Kunkel LM (1987b) Subcellular fractionation of dystrophin to the triads of skeletal muscle. Nature 330:754–758

  6. Horenstein AL, Emery AEH (1980) Human lymphocyte capping in Duchenne muscular dystrophy. Neurology 30:1330–1332

  7. Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM (1987) Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50:509–517

  8. Monaco AP, Bertelson CJ, Middlesworth W, Collett CA, Aldridge J, Fishbeck KH, Bartlett R, Pericak-Vance MA, Roses AD, Kunkel LM (1985) Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature 316:842–845

  9. Nudel V, Zuk D, Einat P, Zeelon E, Levy Z, Neuman S, Yaffe D (1989) Duchenne muscular dystrophy gene product is not identical in muscle and brain. Nature 337:76–78

  10. Sensi A, Venturoli A, Traniello S, Lucci M, Vullo C, Conighi C, Mattiuz PL, Baricordi OR (1984) Impaired capping capacity of peripheral blood lymphocytes in Duchenne muscular dystrophy. J Med Genet 21:182–185

  11. Sudgen B, Marks W (1977) Clonal transformation of adult human leukocytes by Epstein-Barr virus. J Viros 23:503–508

  12. Verrill HL, Pickard NA, Greumer HD (1977) Diminished cap formation in lymphocytes from patients and carriers of Duchenne muscular dystrophy. Clin Chem 23:2341–2343

  13. Zubrzycka-Gaarn EE, Bulman DE, Karpati G, Burghes AHM, Belfall B, Klamut HJ, Talbot J, Hodges RS, Ray PN, Worton RG (1988) The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle. Nature 333:466–469

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Correspondence to O. R. Baricordi.

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Baricordi, O.R., Sensi, A., Balboni, A. et al. Impairment of capping in lymphoblastoid cell lines of Duchenne patients indicates an intrinsic cellular defect. Hum Genet 83, 217–219 (1989). https://doi.org/10.1007/BF00285158

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Keywords

  • Cell Membrane
  • Internal Medicine
  • Metabolic Disease
  • Muscular Dystrophy
  • Generalize Cell