Molecular genetics and bone diseases
Renieri, A.; Giordano, N.; Geraci, S.; Gennari, C.
Annali Dell'istituto Superiore di Sanita 36(1): 89-98
2000
ISSN/ISBN: 0021-2571 PMID: 11070612 Document Number: 513160
The authors describe the molecular mechanisms determining some skeletal diseases, in particular those due to a well-defined, single genic defect. In fact, they examine the hereditary disorders due to mutations in the genes encoding the different collagen types and the hereditary diseases secondary to the defects in: a) the structural proteins of cartilage; b) the enzymes and the sulfate transporters of proteoglycans; c) the transcription factors; d) the growth factors. At the end, the authors emphasize the importance of the genetic studies on animal models, for understanding the etiopathogenesis of many human hereditary disorders.