In order to identify the factor gene and mutation that mark the disease in the studied family, a whole genome sequencing technique was performed in two first cousins ​​affected by TAAD. In this analysis, the following conditions were verified: it was necessary that the factor mutation was shared between these two individuals in a heterozygous state; They had to be rare or atypical and have a lower allomorphic frequency in all populations than the National Heart Respiratory organ and Blood Institute Exome Sequencing Program and Exome Aggregation Consortium pool of 0.01% or less, as well as not be detected in a local database of persons sequenced for additional uncommon nonvascular Mendelian disorders; These mutations also required applying a functional effect on the factor product, preventing analysis at nonsense, missense, frameshift, or other splicing alternatives, and ultimately should assemble with the disease. Say no to plagiarism. Get a tailor-made essay on "Why Violent Video Games Shouldn't Be Banned"? Get an original essay To address the particular mutation, M298R, as the cause of human TAAD, preparation of the homozygous mutant (Lox mut/mut) and the heterozygous mutant (Lox+/mut) using clustered and often interspaced short palindromic repeats (l 'genome editing CRISPR/clustered often interspaced short palindromic repeats associated with nuclease protein-9 (Cas9). the human allele. Next, both the homozygous and heterozygous mutant were compared to the wild type (Lox +/+) for arterial diameter and ascending aorta length measured from the human allele such as blood pressure and circumferential vascular wall resistance, concluding that although Lox+/Mut mice have a different vascular wall material, they have a typical vascular wall mechanism. at physiological pressures. Furthermore, ultrastructural analysis and autofluorescence of elastin were performed. . In humans the disease is formed by an autosomal dominant inheritance of TAAD while in the mouse model it appears in a homozygous state. Heterozygous (Lox+/Mut) mice with fragmented elastic fibers and increased length of the ascending aorta exhibit vascular disease as their vascular walls are deteriorated, which is similar to the distorted shape of the artery developed without development of cardiovascular dissection or aneurysm in humans. humans. Homozygous (Lox Mut/Mut) mice exhibited normal body size compared to wild-type (Lox+/+) and heterozygous (Lox+/Mut) mice. In them, thoracic, abdominal and cranial hemorrhages were also often perceived and were associated with internal bleeding. Please note: this is just an example. Get a customized paper from our expert writers now. Get a Custom Essay Although some animals showed severe kyphosis, an exaggerated abnormal curve in the spine and disrupted diaphragms, twisted and twisted arterial vessels along with aneurysms of the ascending and abdominal aorta were characteristic of all Lox Mut/mut mice. Furthermore, blood clots surrounding blood vessels showed that ruptured aneurysms were a common phenomenon in these Lox Mut/Mut animals. Homozygous mice did not survive any longer; they died immediately after birth due to the bursting of an aortic aneurysm and spontaneous hemorrhage.