Fibrillin-1 in human cartilage: Developmental expression and formation of special banded fibers

Douglas R. Keene, C. Diana Jordan, Dieter P. Reinhardt, Catherine C. Ridgway, Robert N. Ono, Glen M. Corson, Margaret Fairhurst, Michael D. Sussman, Vincent A. Memoli, Lynn Y. Sakai

Research output: Contribution to journalArticle

67 Scopus citations

Abstract

The molecular basis for Marfan's syndrome (MS), a heritable disorder of connective tissue, is new known to reside in mutations in FBN1, the gene for fibrillin-1. Classic phenotypic manifestations of MS include several skeletal abnormalities associated primarily with overgrowth of long bones. As a first step towards understanding how mutations in FBN1 result in skeletal abnormalities, the developmental expression of fibrillin-1 (Fib-1) in human skeletal tissues is documented using immunohistochemistry and monoclonal antibodies demonstrated here to be specific for Fib-1. At around 10-11 weeks of fetal gestation, Fib-1 is limited in tissue distribution to the loose connective tissue surrounding skeletal muscle and tendon in developing limbs. By 16 weeks, Fib-1 is widely expressed in developing limbs and digits, especially in the perichondrium, but it is apparently absent within cartilage matrix. Fib-1 appears as a loose meshwork of fibers within cartilage matrix by 20 weeks of fetal gestation. Until early adolescence, Fib-1 forms loose bundles of microfibrils within cartilage. However, by late adolescence, broad banded fibers composed of Fib-1 are found accumulated pericellularly within cartilage. Because these fibers can be extracted from cartilage using dissociative conditions, we postulate that they are laterally packed and crosslinked microfibrils. On the basis of these findings, we suggest that the growth-regulating function of Fib-1 may reside persistently within the perichondrium. In addition, the accumulation of special laterally crosslinked Fib-1 microfibrils around chondrocytes during late adolescence suggests that growth-regulating activities may also be performed by Fib-1 at these sites.

Original languageEnglish (US)
Pages (from-to)1069-1082
Number of pages14
JournalJournal of Histochemistry and Cytochemistry
Volume45
Issue number8
DOIs
StatePublished - Aug 1997

Keywords

  • Cartilage
  • Fibrillin
  • Marfan's syndrome
  • Microfibrils
  • Special banded fibers

ASJC Scopus subject areas

  • Anatomy
  • Histology

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    Keene, D. R., Jordan, C. D., Reinhardt, D. P., Ridgway, C. C., Ono, R. N., Corson, G. M., Fairhurst, M., Sussman, M. D., Memoli, V. A., & Sakai, L. Y. (1997). Fibrillin-1 in human cartilage: Developmental expression and formation of special banded fibers. Journal of Histochemistry and Cytochemistry, 45(8), 1069-1082. https://doi.org/10.1177/002215549704500805