Ehlers Danlos syndrome

A number of rare genetic diseases involve collagen abnormalities, including Marfan s syndrome and the Ehlers-Danlos syndromes, which result in hyperextensible joints and skin. The formation of atheroselerotie plaques, which cause arterial blockages in advanced stages, is due in part to the abnormal formation of collagenous structures in blood vessels. 

Silk fibroin and collagen illustrate the close linkage of protein stmcture and biologic function. Diseases of collagen mamration include Ehlers-Danlos syndrome and the vitamin C deficiency disease scurvy. 

COUAICOL1A2 Osteogenesis imperfecta, type T(MIM 1566200) Osteoporosis (MIM 166710) Ehlers-Danlos syndrome type VII autosomal dominant (130060)... 

Lysyl hydroxylase Ehlers-Danlos syndrome type VI (MIM 225400)... 

Diseases associated with impaired synthesis of collagen include scurvy, osteogenesis imperfecta, Ehlers-Danlos syndrome (many types), and Menkes disease. 

Sage E Regulation of interactions between cells and extracellular matrix a command performance on several stages. J Clin Invest 2001 107 781. (This article introduces a series of six articles on cell-matrix interaction. The topics covered are cell adhesion and de-adhesion, thrombospondins, syndecans, SPARC, osteopontin, and Ehlers-Danlos syndrome. All of the articles can be accessed at www.jci.org.)... 

The neuromuscular compartment of the bowel wall is also affected in certain types of the Ehler-Danlos syndrome [162], maybe in amyloidosis [163], and in the presence of diffuse lymphocytic infiltration [164],... 

More than 100 mutations of the COL3A1 gene can cause Ehlers-Danlos syndrome (EDS) type IV, an autosomal dominant disorder characterized by joint and dermal manifestations similar to the other forms of the syndrome, but in addition these individuals are prone to spontaneous ruptures of bowel and large arteries. 

Ehlers-Danlos syndromes Mutations in collagen genes and lysine hydroxylase gene Hyperextensible, fragile skin HypermobUe joints, dislocations, varicose veins, ecchymoses, arterial, intestinal ruptures... 

Defects in collagen synthesis, structure, or assembly Into fibers are the principal basis for a group of connective tissue disorders called Ehlers-Danlos syndrome (EDS). 

Ehlers-Danlos syndrome 438 Eicosanoid 565 Eigen, Manfred 84 Elastase 66,609,610,611s cryoenzymology 616 P-cylinder in 78 Elastic fibers 436 Elastin 15,72,436 Electrical double layer 400 Electric field jump methods 468 Electrochemical gradient 410 Electrochemical transference 311 Electrode(s)... 

H. G. Gaig, E. W. Lippay, and P. J. Neame, Proteoglycans in human bum hypertrophic scars from a patient with Ehlers-Danlos Syndrome. Carbohydr. Res., in press. 

Ehlers-Danlos syndrome type V, is due to a deficiency in lysyl oxidase and results in hypermobile joints and hyperextensibility of the skin. The India-rubber man found in circuses probably had such a collagen deficiency. 

Some congenital diseases such as Marfan syndrome or Ehlers Danlos syndrome (type 4) can cause arteriopathies of cranial cervical vessels. In Ehlers Danlos syndrome, elongations, dissections, dilatation and aneurysms, as well as fistula in large and mid-size arteries, are found. Cystic medial necrosis (Ueda et al. 1999) leads to aortic dissections which can include supraaortic vessels (Fig. 5.27)... 

COL1A2 null allele mutations produce collagen that has three al(I>chains rather than two al(I> and one a2(I>chains (50% of all type I collagen in heterozygous and 100% in homozygous cases).The al(I>homotrimer does have a normal role, but only as a minor collagen in fetal tissues. Mutations that result in exclusive synthesis of al(I>homotrimers cause rare recessive forms of OI and Ehlers-Danlos syndrome (Schwarze et al., 2004). 

Schwarze U, Hata R, McKusickVA, et al. Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. Aw J Hum Genet 74 917-930, 2004. 

Ehlers-Danlos syndrome is actnaUy the name associated with at least ten distinct disorders that are biochemically and chnically distinct, yet all manifest structural weakness in connective tissne as a resnlt of defective collagen strncture. 

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