In order to identify the factor gene and the mutation marking the disease in the family studied, a whole genome sequencing technique was carried out in two first cousins ​​affected by TAAD . In this analysis, the following conditions were verified: the factor mutation had to be shared between these two individuals in the heterozygous state; They were required to be rare or atypical, and to have a lower allomorph frequency in all populations compared to the National Cardiac Respiratory Organs and Blood Exome Sequencing Program and Exome Aggregation Consortium pool of 0, 01% or less, and not be detected in a local database of people sequenced for other rare, non-vascular Mendelian disorders; These mutations also required applying a functional effect on the factor product, obstructing the analysis of absurdities, missenses, frameshifts or other secondary alternatives and, finally, should assemble with the disease. Say no to plagiarism. Get a tailor-made essay on “Why violent video games should not be banned”? Get an original essay To address the particular mutation, M298R, as the cause of human TAAD, preparation of a homozygous mutant (Lox mut/mut) and d 'a heterozygous mutant (Lox+/mut) by clustered and often interspaced short palindromic repeats (CRISPR/clustered and often interspaced short palindromic repeats - genome editing associated with protein 9 nuclease (Cas9) was used. A human mutation has was injected into the homologous location in the mouse genome, producing mice that were homozygous mutants (Lox mut/mut) and heterozygous mutants for the human allele. Later, the homozygous and heterozygous mutants were compared to type. wild (Lox +/+) for arterial diameter, the ascending aortic length measured from the aortic root to the branchiocephalic artery due to its 10% length in heterozygous mice. Vital signs such as blood pressure and circumferential vessel wall resistance were also measured, concluding that although Lox+/Mut mice have different vessel wall material, they have typical vessel wall mechanism. to physiological blood pressures. Additionally, ultrastructural analysis and elastin autofluorescence were performed. . In humans, the disease is formed by autosomal dominant transmission of TAAD while in the mouse model it appears in the homozygous state. Heterozygous mice (Lox+/Mut) with fragmented elastic fibers and increased ascending aortic length suffer from vascular diseases because their vessel walls are deteriorated, which is similar to the distorted shape of the artery developed without the development of cardio-dissection. vascular or aneurysm in humans. Homozygous (Lox Mut/Mut) mice exhibited normal body size compared to wild-type (Lox+/+) and heterozygous (Lox+/Mut) mice. Thoracic, abdominal, and cranial hemorrhages were also commonly seen in them and were associated with internal hemorrhage. Keep in mind: this is just a sample. Get a personalized article from our expert writers now. Get a Personalized Essay Although some animals exhibited severe kyphosis, an exaggerated abnormal curvature of the spine and disrupted diaphragms, winding and convoluted arterial vessels as well as ascending and abdominal aortic aneurysms were features of all animals. mouse Lox Mut/mut. Additionally, blood clots surrounding blood vessels showed that aneurysmal rupture was a common phenomenon in these.