The myoblast defect identified in Duchenne muscular dystrophy is not a primary expression of the DMD mutation: Clonal analysis of myoblasts from five double heterozygotes for two X-linked loci: DMD and G6PD Journal Article
| Authors: | Webster, C.; Filippi, G.; Rinaldi, A.; Mastropaolo, C.; Tondi, M.; Siniscalco, M.; Blau, H. M. |
| Article Title: | The myoblast defect identified in Duchenne muscular dystrophy is not a primary expression of the DMD mutation: Clonal analysis of myoblasts from five double heterozygotes for two X-linked loci: DMD and G6PD |
| Abstract: | We previously proposed the hypothesis that the primary expression of the defect in X-linked Duchenne muscular dystrophy (DMD) occurred in the myoblast, or muscle precursor cell. This was based on the observation that the number of viable myoblasts obtained per gram DMD muscle tissue was greatly reduced and those that grew in culture had decreased proliferative capacity and an aberrant distended flat morphology. Here we test that hypothesis by determining whether the expression of the myoblast defect is X-linked. Muscle cells were obtained from five doubly heterozygous carriers of two X-linked loci, DMD and glucose-6-phosphate dehydrogenase (G6PD), and compared with those from five sex-and age-matched controls heterozygous for G6PD only. A total of 1,355 individual clones were determined to be muscle and evaluated at the single cell level for proliferative capacity, morphology, and G6PD isozyme expression. The results demonstrate that the proportion of defective myoblast clones is significantly increased in DMD carriers. However, since this cellular defect does not consistently segregate with a single G6PD phenotype in the myoblast clones derived from any of the carriers, it is unlikely to be the primary expression of the DMD mutant allele. © 1986 Springer-Verlag. |
| Keywords: | adult; middle aged; human cell; cytology; cells, cultured; heredity; in vitro study; heterozygote; pedigree; x chromosome; sex difference; linkage (genetics); genetic linkage; genetic markers; myoblast; muscle; duchenne muscular dystrophy; pedigree analysis; etiology; cloning; glucose 6 phosphate dehydrogenase; glucosephosphate dehydrogenase; humans; human; male; female; priority journal; muscular dystrophies; sex limitation |
| Journal Title: | Human Genetics |
| Volume: | 74 |
| Issue: | 1 |
| ISSN: | 0340-6717 |
| Publisher: | Springer |
| Date Published: | 1986-09-01 |
| Start Page: | 74 |
| End Page: | 80 |
| Language: | English |
| DOI: | 10.1007/bf00278789 |
| PUBMED: | 3463532 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | Article -- Export Date: 18 August 2021 -- Source: Scopus; Acknowledgments: s. The authors wish to express their deep appreciation to the members of the families for their availability and generous help during the performance of this study |
