The concept of """"""""heritable disorders of connective tissue"""""""" was initially developed by Dr. Victor A. McKusick as """"""""generalized defects involving primarily one element of connective tissue--collagen elastin or mucopolysaccharide-a transmissible in a simple Mendelian manner."""""""" These disorders originally included the Marfan syndrome Weill-Marchesani syndrome, the Ehlers-Danlos syndromes, cutis laxa, osteogenesis imperfecta, pseudoxanthoma elasticum, and the chondrodysplasias. The organs affected by these disorders included skin, bone and cartilage, the eye, heart and blood vessels. As the known elements of connective tissue have expanded dramatically, so has the concept of heritable disorders of connective tissue. Today epidermolysis bullosa (skin), muscular dystrophies (skeletal muscle), and Alport syndrome (kidney) can also be regarded as heritable disorders of connective tissue. Conversely, the demonstration of mutations in growth factors, in integrin and growth factor receptors, and in transcription factors in various heritable disorders of connective tissue conveys a new depth of appreciation for the complex interactions between cells and extracellular matrix which underlie """"""""simple"""""""" connective tissue disorders. The Coalition for Heritable Disorders the Connective Tissue and the National Institutes of Health have sponsored two previous workshops, the first in 1990 and the second in 1995. The focus of these workshops was to review the current status of research in the area and to identify important directions for research in the future. A third meeting at the National Institutes of Health, again cosponsored by the Coalition for Heritable Disorders of Connective Tissue, is proposed for April, 2000. The focus of this meeting will be on pathogenesis of connective tissue disorders. The goals of the meeting will be to stimulate broad, creative thinking about how mutations result in disease, to integrate current information from all potentially relevant areas of matrix biology, to foster new collaborations particularly with investigators from outside the immediate area of heritable disorders of connective tissue, and to identify areas of research with high significance and high potential for success.
| Sakai, Lynn Y; Byers, Peter H; Ramirez, Francesco (2002) A report on the 3rd Workshop on Heritable Disorders of Connective Tissue. Matrix Biol 21:7-13 |
