A cell surface abnormality in Duchenne muscular dystrophy: Intercellular adhesiveness of skin fibroblasts from patients and carriers

G. E. Jones; J. A. Witkowski

doi:10.1007/BF00284655

A cell surface abnormality in Duchenne muscular dystrophy: Intercellular adhesiveness of skin fibroblasts from patients and carriers

G. E. Jones, J. A. Witkowski^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

14 Citations (Scopus)

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.

Original language	English
Pages (from-to)	232-237
Number of pages	6
Journal	Human Genetics
Volume	63
Issue number	3
DOIs	https://doi.org/10.1007/BF00284655
Publication status	Published - 1 May 1983

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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.",

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T1 - A cell surface abnormality in Duchenne muscular dystrophy

T2 - Intercellular adhesiveness of skin fibroblasts from patients and carriers

AU - Jones, G. E.

AU - Witkowski, J. A.

PY - 1983/5/1

Y1 - 1983/5/1

N2 - 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.

AB - 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.

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A cell surface abnormality in Duchenne muscular dystrophy: Intercellular adhesiveness of skin fibroblasts from patients and carriers

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