Ehlers-Danlos syndrome (EDS) is a genetic disease that has an effect on the connective tissues that support bones, blood vessels and other organs. Some of the of Ehlers-Danlos symptoms are back pain, flat feet, joint pain, and doube-jointedness, premature rupture during pregnancy, very soft skin, increased joint mobility, and also vision problems. Those damages cause tremendously loose joints, easily damaged blood vessels and hyper elastic skin. Those symptoms can cause life threatening difficulties. EDS is diagnosed by testing the collagen type or gene mutation, heart ultrasound, and oxidase activity. EDS classifies into many different observable phenotypes. Some types especially the vascular can cause serious life threatening complications damaging the blood vessels which leads to internal bleeding, shock and stroke. This vascular type is associated with the increase of risk of organ rupture as well as tearing the intestine, and ruptures the uterus during pregnancy. The mode of inheritance is either autosomal dominant or recessive depending of the type.
Ehlers-Danlos syndrome has six major types but my primary research is going to focus on the vascular type , EDS IV, which results in hyper mobility of the joints, fragile, rupture blood vessels and bruising.()) . The vascular type reduces life expectancy, and this is due to the impulsive rupture of the arteries. Usually people with this type live up to 40-50 years and there are no current treatments for it.
EDS happens from mutation of the COL3A1 gene which encodes for pro-α1. COL3A1 is broadly distributed in the skin, blood vessels and ligaments; it provides ways of making proteins that are used to assemble different types of collagen. () Mice were used to experiment the target mutation of COL3A1. This model was hard to develop because the heterozygous mice were not subject to death from arterial rupture, whereas the homozygote’s had an average survival of 5% at young age with most dying within 48 hours of birth. Homozygous mice with a mutated allele of the first intron of the Col1a1 gene are predisposed to aortic rupture in adulthood. The development of this model has made it possible to investigate the role of risk factors, including aneurysm formation, in the small number of patients with osteogenesis imperfecta that die from rupture of major blood vessels.
Autosomal dominant but the offspring doesn’t display it 28% penetrance
