What is a gene?
Genes are biological units that store hereditary material. Hereditary means that we received our genes from our parents and that we will pass on some of our genes to our children. This hereditary material is called DNA. DNA is a "code" that is read and interpreted by our body. The DNA in our genes is what makes our eyes blue or our hair black. In order to be inherited, DNA must be tightly packed into a structure called chromosomes. Humans normally have 2 copies of 23 distinct chromosomes. COL3A1, pictured below, is located at a specific location q31 on chromosome 2 (1).
In the case of genetic disease, changes are made to our DNA which can affect how they are read and interpreted by our body. Vascular EDS occurs when there is a mutation in COL3A1. There is not just a single mutation that can lead to the disease, rather many different mutations throughout the segment of DNA that makes up the gene. While scientists are still finding new disease causing mutations, certain conclusions can be drawn about the nature of EDS mutations. For individuals affected by Vascular EDS 2/3 of the mutations are glycine substitutions in a collagen domain. As a result of these amino acid substitutions, more of collagen miss-folds leading to an overall reduction of the total amount of Type III collagen in individuals affected with Vascular EDS.
In the case of genetic disease, changes are made to our DNA which can affect how they are read and interpreted by our body. Vascular EDS occurs when there is a mutation in COL3A1. There is not just a single mutation that can lead to the disease, rather many different mutations throughout the segment of DNA that makes up the gene. While scientists are still finding new disease causing mutations, certain conclusions can be drawn about the nature of EDS mutations. For individuals affected by Vascular EDS 2/3 of the mutations are glycine substitutions in a collagen domain. As a result of these amino acid substitutions, more of collagen miss-folds leading to an overall reduction of the total amount of Type III collagen in individuals affected with Vascular EDS.
Figure 1: Chromosome 2 and the location of COL3A1
References
1) "COL3A1 Gene." Genetics Home Reference. U.S. National Library of Medicine, May 2006. Web. 20 Feb. 2015. <http://ghr.nlm.nih.gov/gene/COL3A1>
1) "COL3A1 Gene." Genetics Home Reference. U.S. National Library of Medicine, May 2006. Web. 20 Feb. 2015. <http://ghr.nlm.nih.gov/gene/COL3A1>