Fibrillin

Marfan syndrome is an inherited, autosomal dominant disease that affects the Fibrillin-1 gene. The research will investigate the efficiency of the beta-blocker therapy, a common treatment for cardiac complications. The scientists will also explore the cause of Marfan syndrome, and provide evidence on the theory of TGF-ß causing particular Marfan syndrome symptoms. In brief, with funding, an experiment on patients, ages 5-20, will be asked to receive either the beta-blocker therapy or the experimental enalapril treatment. The beta-blocker and enalapril treatments will be given in the same doses and for 6 months. Because beta-blocker therapy is commonly used to treat cardiovascular complications, a variety of aortic structure and functionalities will be studied. We will be measuring aortic distensibility, aortic growth, stiffness index, and other aortic functionality factors. These characteristics will be compared amongst patients to provide data on the most efficient treatment. The results of this experiment will…

Marfan Syndrome Near the end of the 19th century a french doctor Antoine Marfan was the first doctor to notice the effects of a common disorder (Atinder). Marfan syndrome is a genetically inherited disorder that affects the connective tissues that exist through the body. Specifically, Marfan syndrome alters the FBN1 gene and this affects the production of fibrillin (NHGRI). Fibrillin is a protein that is produced by the body to give strength to connective tissue. Without this protein,…

syndrome is caused by mutations in the “FBN1 gene, which encodes fibrillin-1 protein,” on the long arm of chromosome 15 (NCBI.JCI). Over 1,300 FBN1 gene mutations have been identified in correlation to marfan syndrome. The majority of these changes in the FBN1 gene are due to a single change of an amino acid, resulting in a fibrillin-1 protein that cannot function in the manner that it should. Typically, fibrillin-1 is secreted out of cells and into the extracellular matrix, where it will bind…

E - Beta myosin heavy chain is the protein that is most likely to cause the thickening of the ventricle described above. This is a major protein produced by the MYH7 gene and comprises the thick filament in cardiac muscle and plays a major role in cardiac muscle contraction. Mutations of this MYH7 cause excess thickening of the cardiac muscle, namely the left ventricle wall. It is not known how the mutation of MYH7 causes this thickening, but this thickening causes a functional impairment of…

using the nutrient and optimal environment to grow in volume. Differentiation is a cell turning into specialized cells due to different gene regulators. Migration is a cell moving to the appropriate position within the body, it also is used to fix parts of the body when they are damaged. Apoptosis is cell death that is programmed and cell connections help the cell to contact each other and communicate important information (3, 8). The gene FBN1 gives instructions to make the protein fibrillin-1,…

Marfan syndrome was named after the founder, Antoine Marfan in 1896, the syndrome is a genetic disorder of connective tissue. Individuals who are diagnosed with Marfan syndrome typically have lengthened limbs; they are tall and thin with long arms and legs. This disease can either be mildly or severely life threatening, depending on the individual. Marfan Syndrome is caused by a defect, or mutation, in the gene that determines the structure of fibrillin-1, a protein that is an important…

B – dystrophin is part of a group of a protein complex that works together to strengthen muscle fibres and protect them from injury as muscles contract and relax. Dystrophin is produced by the DMD gene and mutations cause Duchenne and Becker muscular dystrophies, which lead to reduced amounts of dystrophin in skeletal muscle cells. This reduced amount of dystrophin causes muscles to weaken and damage over time, causing the build up of fat rather than muscle. This pseudohypertrophy causes the…

This patient has Marfan syndrome. This condition arises from an autosomal dominant mutation in the gene for the fibrillin-1 protein. Patients with Marfan syndrome are generally of tall stature with long limbs. Their joints are hypermobile, which can be assessed by asking patients to extend their elbows and observing hyperextension. Hypermobility at the wrists is observed by asking the patient to touch the volar or anterior surface of the forearm with their fingers. Through hyperflexion of the…

nearsighted, having flat feet, extremely flexible joints, crowned teeth caused by an arched palate and interior traits. The interior traits that are hidden from view of Marfan is an abnormal accumulation of O2 causing the lung to collapse, severe defects in the aorta valve, which is the largest blood vessel connecting to the heart, and potential bleeding are other signs of Marfan Syndrome. The Marfan Syndrome is an error or mutation in the connective tissue that causes defects in one’s…

“Marfan syndrome occurs when there is a mutation in the gene, specifically what tells the body how to make fibrillin. This gene is called, FBN1. “This mutation results in an increase in a protein called transforming growth factor beta, or TGF-β. The increase in TGF-β causes problems in connective tissues throughout the body, which in turn creates the features and medical problems associated with Marfan syndrome and some related disorder” (9). In the human society, Marfan syndrome occurs in 1 in…