Category
Poster - Basic
Description
This paper serves as an in-depth exploration of a rare genetic disorder, Ehlers-Danlos Syndrome, discussing its genetic basis and pathology, as well as offers a unique perspective from those who are afflicted by it. Ehlers-Danlos Syndrome (EDS) is a connective tissue disorder that ultimately stems from a rare genetic mutation and disruption of the extracellular matrix. Thirteen different variations of this possibly life-threatening syndrome have been established. The types of EDS have different genes that are mutated to specifically result in the variant. The focus of this proposal is the vascular variation, otherwise referred to as vEDS. Vascular Ehlers-Danlos Syndrome can remain hidden until there is a rupture in a major artery. There are two known genetic mutations of the COL3A1 gene that result in vEDS, an amino acid substitution and deletion of multiple exons. These mutations lead to a defective production or lack of production of type III collagen from the alpha-1 chain. This mutated collagen manufacturing leads to increased tissue fragility, particularly in blood vessels. Abdominal Vascular Compression Syndromes (AVCS) all involve some sort of underlying susceptibility to compression of major vessels, but it has yet to be discovered. The umbrella-group AVCS is compiled of Median Arcuate Ligament Syndrome, May-Thurner Syndrome, Nutcracker syndrome, and more. As a new and upcoming research subject, AVCS demonstrates a correlation between each of the syndromes and now even connections with Ehlers-Danlos Syndrome. In order to better understand the contemporary relationship between EDS and AVCS, a deeper analysis of the genetics of Ehlers-Danlos Syndrome, as well as its effects, would be beneficial to patients who suffer from this syndrome and those that fall into the AVCS category.
A Cellular and Genetic Approach to Ehlers-Danlos Syndrome
Poster - Basic
This paper serves as an in-depth exploration of a rare genetic disorder, Ehlers-Danlos Syndrome, discussing its genetic basis and pathology, as well as offers a unique perspective from those who are afflicted by it. Ehlers-Danlos Syndrome (EDS) is a connective tissue disorder that ultimately stems from a rare genetic mutation and disruption of the extracellular matrix. Thirteen different variations of this possibly life-threatening syndrome have been established. The types of EDS have different genes that are mutated to specifically result in the variant. The focus of this proposal is the vascular variation, otherwise referred to as vEDS. Vascular Ehlers-Danlos Syndrome can remain hidden until there is a rupture in a major artery. There are two known genetic mutations of the COL3A1 gene that result in vEDS, an amino acid substitution and deletion of multiple exons. These mutations lead to a defective production or lack of production of type III collagen from the alpha-1 chain. This mutated collagen manufacturing leads to increased tissue fragility, particularly in blood vessels. Abdominal Vascular Compression Syndromes (AVCS) all involve some sort of underlying susceptibility to compression of major vessels, but it has yet to be discovered. The umbrella-group AVCS is compiled of Median Arcuate Ligament Syndrome, May-Thurner Syndrome, Nutcracker syndrome, and more. As a new and upcoming research subject, AVCS demonstrates a correlation between each of the syndromes and now even connections with Ehlers-Danlos Syndrome. In order to better understand the contemporary relationship between EDS and AVCS, a deeper analysis of the genetics of Ehlers-Danlos Syndrome, as well as its effects, would be beneficial to patients who suffer from this syndrome and those that fall into the AVCS category.
Comments
Undergraduate