Katerina Michalickova, Miki Susic, Marcia C. Prepared, Richard J. Wenstrup, William G. Cole, Mutations of the α2(V) Chain of Type V Collagen Impair Matrix Meeting and Produce Ehlers-Danlos Syndrome Type I, Human Molecular Genetics, Quantity 7, Problem 2, February 1998, Pages 249–255, https://doi.org/10.1093/hmg/7.2.249
Summary
Introduction
On this examine we report that heterozygous exon skipping mutations of human COL5A2, which alter the construction of the triple helical area of α2(V) chains, severely impair matrix meeting in dermis however not in bone. The mutations produced the EDS sort I phenotype.
Outcomes
Regular collagen birefringence indicated that the collagen fibres had been usually packed and arranged within the trabecular bone from proband EDS 3 (outcomes not proven). Gentle microscopy of cancellous and compact bone of EDS tibia didn’t reveal any anomalies (outcomes not proven). The osteoblasts and periosteal fibroblasts had been regular in look.
Dialogue
Nonetheless, it’s seemingly that ordinary collagen fibrillogenesis includes tissue-specific interactions between the massive quantities of sort I collagen, the variable quantities of sort III collagen, the minor quantities of assorted sort V collagens and kind V/XI hybrid collagens in addition to different matrix macromolecules (3). Additional research are additionally wanted to match the processes of fibrillogenesis in tissues containing varied types of sort V collagen.
Supplies and Strategies
Gentle microscopy, birefringence microscopy and transmission electron microscopy of dermis and decalcified bone had been undertaken utilizing beforehand described strategies (27).
Acknowledgements
This work was supported by grants from the Medical Analysis Council of Canada, the Samuel Lunenfeld Charitable Basis (to W.G.C.), the Lucille Markey Belief, the Trustees of the Cincinnati Kids’s Hospital Analysis Basis (to R.J.W.) and by a Carver Clinician Scientist Award (to M.C.W.). We thank L.-C.Tsui for screening of a PAC library for COL5A2-containing clones, F.Ramirez for α2(V) cDNA clones in addition to C.Smith and VEdwards for the pathology research.