ECM Sequence Function
Elastic fibre consists of vital proteins found in the extra cellular matrix (ECM) of connective tissues such as arteries, lungs, skins, elastic cartilages and several other structures. We are particularly interested in how the structure of elastic fibre is tied to healthy functioning of smooth muscle cells found in the aorta. The aorta experiences up to billions cycles of stress and strain in a lifetime, however there is little to none elastic fibre turnover in the aorta. We propose that minor defects, such as single-nucleotide polymorphism (SNP), on a protein in the elastic fibre could subtly disrupt the structure of the elastic fibre, causing long term effects and predisposing the individual to cardiovascular disease.
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One of the leading causes of death in North America is thoracic aneurysms and dissections (TAAD). We plan to test our hypothesis by analyzing the genomic data from patient affected by TAAD and screening for any SNPs on the genes which codes for components of the elastic fibre. We will also validate our findings experimentally by characterizing the interactions of the proteins which results from genes with SNPs.