source: Journal of Medical Genetics
Tsipouras P, Ramirez F
The term ‘collagen disease’ should be confined to a small group of disorders caused by structural or metabolic defects of collagen. Our understanding of the pathobiology of the genetic collagen disorders has been slow in its evolution, particularly when compared to other genetic disorders like the haemoglobinopathies. This is partly due to the biological complexity of the connective tissues and partly to our limited knowledge of the various structural, functional, and genetic features of these proteins. To a certain extent knowledge of the latter has been increased by several fundamental findings, such as the discovery of the tissue heterogeneity of collagens, the elucidation of the numerous biosynthetic steps leading to collagen fibrillogenesis, and last, but not least important, by the isolation and characterisation of several human collagen genes. In this review we will cover basic aspects of the biochemistry and molecular biology of the human collagen system and discuss findings from some well documented variants of heritable disorders of collagen. We will also attempt to relate this basic information to the practice of clinical genetics.
UMDNJ-Rutgers Medical School; SUNY-Downstate Medical Center
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