A Cell Surface Abnormality in Duchenne Muscular Dystrophy: Intercellular Adhesiveness of Skin Fibroblasts from Patients and Carriers

Overview

Journal Hum Genet

Specialty Genetics

Date 1983 Jan 1

PMID 6852819

Citations 5

Authors

G E Jones

J A Witkowski

Affiliations

Soon will be listed here.

Abstract

The intercellular adhesiveness of skin fibroblasts from patients and carriers of Duchenne muscular dystrophy (DMD) and control subjects has been determined using couette viscometers. The values for 12 DMD patients (mean = 1.38, SEM = 0.1, n = 32) were significantly lower than for ten control subjects (mean = 3.17, SEM = 0.2, n = 22). According to the Lyon hypothesis, carriers of DMD should be mosaics of cells expressing the normal and DMD phenotypes, and their cultured skin fibroblasts should have intercellular adhesiveness intermediate between that for normal and DMD cells. Cells from three obligate heterozygotes and five individuals at high risk of being carriers had normal values (in both groups mean = 2.82) in contrast to artificial 1:1 mixtures of normal and DMD cells that had intermediate values (mean = 2.22, SEM = 0.2, n = 15). This unexpected finding is probably the result of "correction" of the DMD cells by normal gene product from the cells expressing the normal gene.

Citing Articles

Monensin-induced inhibition of cell spreading in normal and dystrophic human fibroblasts.

Pizzey J, Witkowski J, Jones G Proc Natl Acad Sci U S A. 1984; 81(15):4960-4.

PMID: 6589639 PMC: 391612. DOI: 10.1073/pnas.81.15.4960.

Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention.

Moser H Hum Genet. 1984; 66(1):17-40.

PMID: 6365739 DOI: 10.1007/BF00275183.

Cell surface abnormality in clones of skin fibroblasts from a carrier of Duchenne muscular dystrophy.

Hillier J, Jones G, Statham H, Witkowski J, Dubowitz V J Med Genet. 1985; 22(2):100-3.

PMID: 3989823 PMC: 1049392. DOI: 10.1136/jmg.22.2.100.

Progressive muscular dystrophy (Duchenne): biochemical studies by flow-cytometry.

Hirsch-Kauffmann M, Valet G, Wieser J, Schweiger M Hum Genet. 1985; 69(4):332-6.

PMID: 3988282 DOI: 10.1007/BF00291651.

Requirements for the Ca2+-independent component in the initial intercellular adhesion of C2 myoblasts.

Pizzey J, Jones G, Walsh F J Cell Biol. 1988; 107(6 Pt 1):2307-17.

PMID: 3198689 PMC: 2115660. DOI: 10.1083/jcb.107.6.2307.

References

MIGEON B, Moser H, Moser A, Axelman J, Sillence D, Norum R . Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells. Proc Natl Acad Sci U S A. 1981; 78(8):5066-70. PMC: 320333. DOI: 10.1073/pnas.78.8.5066. View

KLEINE T . Evidence for the release of enzymes from different organs in Duchenne's muscular dystrophy. Clin Chim Acta. 1970; 29(2):227-31. DOI: 10.1016/0009-8981(70)90041-0. View

Wertz R, Hartwig G, FROST A, Brophy J, ATWATER S, Roses A . Patients with myotonic dystrophy, a possible segmental progeroid syndrome, and Duchenne muscular dystrophy have fibroblasts with normal limits for in vitro lifespan and growth characteristics. J Cell Physiol. 1981; 107(2):255-60. DOI: 10.1002/jcp.1041070212. View

Munsat T, Baloh R, Pearson C, Fowler Jr W . Serum enzyme alterations in neuromuscular disorders. JAMA. 1973; 226(13):1536-43. View

Jones G, Witkowski J . Reduced adhesiveness between skin fibroblasts from patients with Duchenne muscular dystrophy. J Neurol Sci. 1979; 43(3):465-70. DOI: 10.1016/0022-510x(79)90025-x. View

MIGEON B, Do T . In search of non-random X inactivation: studies of fetal membranes heterozygous for glucose-6-phosphate dehydrogenase. Am J Hum Genet. 1979; 31(5):581-5. PMC: 1685908. View

Gartler S, Gandini E, Angioni G, Argiolas N . Glucose-6 phosphate dehydrogenase mosaicism: utilization as a tracer in the study of the development of hair root cells. Ann Hum Genet. 1969; 33(2):171-6. DOI: 10.1111/j.1469-1809.1969.tb01642.x. View

Thompson E, Yasin R, van Beers G, Nurse K, Al-Ani S . Myogenic defect in human muscular dystrophy. Nature. 1977; 268(5617):241-3. DOI: 10.1038/268241a0. View

Burgoyne P . Genetic homology and crossing over in the X and Y chromosomes of Mammals. Hum Genet. 1982; 61(2):85-90. DOI: 10.1007/BF00274192. View

10.

Brown A . Cluster formation in monolayer cultures of normal and diseased human muscle. Exp Neurol. 1981; 71(2):390-7. DOI: 10.1016/0014-4886(81)90097-2. View

11.

Albertini R, Demars R . Mosaicism of peripheral blood lymphocyte populations in females heterozygous for the Lesch-Nyhan mutation. Biochem Genet. 1974; 11(5):397-411. DOI: 10.1007/BF00486413. View

12.

Jones G, Witkowski J . Membrane abnormalities in Duchenne muscular dystrophy. J Neurol Sci. 1983; 58(2):159-74. DOI: 10.1016/0022-510x(83)90214-9. View

13.

Rosenmann E, Kreis C, Thompson R, Dobbs M, Hamerton J, Wrogemann K . Analysis of fibroblast proteins from patients with Duchenne muscular dystrophy by two-dimensional gel electrophoresis. Nature. 1982; 298(5874):563-5. DOI: 10.1038/298563a0. View

14.

Curtis A . Re-examination of a supposed case of specific cell adhesion. Nature. 1970; 226(5242):260-1. DOI: 10.1038/226260a0. View

15.

Prchal J, Carroll A, Prchal J, Crist W, Skalka H, Gealy W . Wiskott-Aldrich syndrome: cellular impairments and their implication for carrier detection. Blood. 1980; 56(6):1048-54. View

16.

Ho A, Stojakowits S, Reitter B, Fiehn W, Zipperle G, Hunstein W . Capping of lymphocytes in patients and carriers of Duchenne muscular dystrophy. Klin Wochenschr. 1980; 58(7):377-81. DOI: 10.1007/BF01477281. View

17.

Thompson E, Cavanagh N, Yasin R . Incidence of cell clusters in 318 cultured muscle biopsies from Duchenne dystrophy, normal, and other neuromuscular disorders. Exp Neurol. 1981; 74(3):940-2. DOI: 10.1016/0014-4886(81)90267-3. View

18.

Statham H, Witkowski J, Dubowitz V . Protein degradation in skin fibroblasts from patients with Duchenne muscular dystrophy. Biochem J. 1980; 192(1):257-62. PMC: 1162329. DOI: 10.1042/bj1920257. View

19.

Jones G, Witkowski J . Analysis of skin fibroblast aggregation in Duchenne muscular dystrophy. J Cell Sci. 1981; 48:291-300. DOI: 10.1242/jcs.48.1.291. View

20.

Jacobs P, Hunt P, Mayer M, Bart R . Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21. Am J Hum Genet. 1981; 33(4):513-8. PMC: 1685082. View