Hereditary+hemorrhagic+telangiectasia+type+2

Maggie Brower Hereditary hemorrhagic telangiectasia type 2 which a systemic fibrovascular dyspasia that has an autosomal dominant inheritance (Assis et al., 2007). This disease the blood flows directly into the veins instead of the capillaries first, like it should. There is too much pressure when the blood reaches the veins that the blood “splatters” and creates red spots on the skin along with bleeding problems. Mutations occur on the ENG and ALK1 gene which causes the disease. The poor function of the ALK1 protein interferes with the development of the arteries and veins. ENG gene codes for protein endoglin which is also involved in the development of the arteries. Since ENG are coded with proteins that went through signal transduction and that activates proteins such as endoglin and STK. This creates a SMAD complex that gets transcribes expressing the ENG and ALK1 genes which codes for the disease. ACVRL1 the combination of mutations would cause the disease. Both ENG and ALK1 have receptors for TGF- β  that is important for blood vessel development (Yan et al., 2006).
 * Background**
 * Fact sheet**
 * ||  || Fact sheet ||   ||
 * || Disease || hereditary hemorrhagic telangiectasia type 2 ||  ||
 * || root cause || mutation in the ENG and ACVRL1 gene ||  ||
 * || affected organs || Arteries, veins, capalleries ||  ||
 * || Historical background || In the 1800s Henry Sutton, Benjamin Babington, and ||  ||
 * ||  || and John Legg discovered the diseases. The ||   ||
 * ||  || term "hereditary hemorrhagic telangiectasia type 2" ||   ||
 * ||  || was first used by Frederic Hanes in 1909. ||   ||
 * ||  || In 2006 the national HHT international program was created. ||   ||
 * || Common symptoms || Red lesions on skin (mostly lips and touge), poor development ||  ||
 * ||  || of vesseld in lungs and liver. Nosebleeds are common ||   ||
 * || Standard treatment || The treatment is meant for the symptoms, there is no cure ||  ||
 * ||  || for the disease. Tissues and pressure to stop nosebleeds, ||   ||
 * ||  || skin graphs can help the lesions that bleed often and that cause ||   ||
 * ||  || pain. ||   ||
 * || Current research || There is some research on that pulmonary hypertension is related to ||  ||
 * ||  || hereditary hemorrhagic telangiectasia type 2 (Jerkic et al., 2011) ||   ||
 * ||  || They believe this could be a side effect of the disease with having ||   ||
 * ||  || such poor vessels formed. They still believe linkage between ||   ||
 * ||  || ENG and ACVRL1 genes mutated and cause the disease but the ||   ||
 * ||  || cause for these mutations are still unclear and need more ||   ||
 * ||  || research (Yan et al., 2006) ||   ||
 * Flow chart**
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Assis, A.M., Costa, F.F., Arruda, V.R., Annichino-Bizzacchi, J.M., & Bertuzzo, C.S. 2007. Three novel mutation in the activin receptor-like kinase 1 (ALK-1) gene in hereditary hemorrhagic telangiectasia type 2 in Brazilian patients. //Journal of Human Genetics,//52(3),237- 243 Jerkic, M., Kabir, M.G., Davies, A., Yu, L.X., McIntyre, B.S., Husain, N.W., & Letarte, M. 2011. Pulmonary hypertension in adult ALK1 heterozygous mice due to oxidative stress. //Cardiovascular Research,// 92(3), 375-384 Yan, Z. M., Fan, Z.P., Du, J.J., Hua, H.H., Xu, Y.Y., & Wang, S.L. 2006. A novel in ALK-1 casues hereditary hemorrhagic telangiectasia type 2. //Journal of Dental Research,// 85(8), 705-710 Hereditary hemorrhagic telangiectasia //Genetic Home reference. //http://ghr.nlm.nih.gov/condition/hereditary-hemorrhagic-telangiectasia
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