you need to. The disorder results in abnormally long and thin digits in your genes and also frequently in optical and cardiovascular defects. Our connective tissue is made up of many proteins and the protein that affects Marfan Syndrome would be fibrillin-1, which in this disorder is a defect in the body on how to make this protein. The Transforming Growth Factor Beta (TBF-β) protein takes
glycoprotein gene fibrillin-1 (FBN1) which is located on chromosome 15(Marcheix, 2008). There are many mutations that can cause Marfan Syndrome, but most common are missense in that they are single-nucleotide changes that result in the substitution of a single letter that leads to a single amino acid change in the protein. The change in the amino acid alters the shape of the fibrillin proteins. The irregularly-shaped protein then assembles into irregularly shaped microfibrils. Fibrillin is a major element
The syndrome was named after Georges Guillain and Jean Alexandre Barre in 1916, Guillain-Barre Syndrome is an autoimmune disease, activated by an infection, or surgery that causes the immune system to attack the lower motor neurons in the peripheral nervous system, but will gradually work its way distally to more proximal. “This syndrome can affect people in any age group and occurs in 1 in 100,000 of the population.” (Lescher, 2011). Guillain Barre Syndrome typically occurs following an infection
Syndrome is name after Antoine Marfan. He was a French pediatrician who first describe the condition in 1896. Marfan Syndrome other known as the connective tissue disorder, is an inherited tissue disorder. It is the missfloding of protein fibrillin. (code fibrillin-1) Marfan affects the connective tissue of heart, blood vessels, eyes, bones, lungs and covering of spinal cord. There are so many affected parts in the body because of Marfan Syndrome, because of this it can cause many complications which
Single Gene Mutation and the gene that is mutated is FBN 1 (Fibrillin 1).The gene is located on chromosome 15 and the disorder’s mode of inheritance is autosomal dominant. This means that females and males are equally affected and that only one gene, “abnormal” gene is needed from either parent to be inherited in. Fibrillin 1 basically affects the elasticity of connective tissue. The gene makes many fibrillin proteins and these fibrillin proteins then join together to form a long, and string like
Marfan syndrome is connective tissue disorder that results in a mutation in the Fibrillin 1 gene. The life expectancy of an individual with Marfan syndrome is close to normal with early detection, but Marfan syndrome still remains underestimated due in large part to characteristics similarities that are common in general public. This is compounded by the 25 percent of individuals with a new gene mutation on Fibrillin 1. It is imperative that nurses have a greater understanding of Marfan syndrome
What do Michael Phelps, Abraham Lincoln, Mary Queen of Scots, & Tutankhamen all have in common? Although these may seem like completely unrelated names, these are all people suspected of having Marfan’s Syndrome, a genetic mutation obtained through heredity. How does DNA (Deoxyribonucleic Acid) and its complex (structure) relate to inheritance of traits in organisms—especially in humans? DNA is inherited from ones biological parents, and is the basis of heredity. It contains the code for all of our
musculoskeletal system (Frey R, Lutwick L, 2009). Marfan syndrome is an autosomal dominant disorder resulting from mutations in the gene fibrillin-1 (FBN1) found on chromosome 15 (McKusick V, O'Neill M, 2013). At least 140 different mutations of this gene have been recorded since 2008 (Frey R, Lutwick L, 2009). The FBN1 gene regulates the manufacturing of the fibrillin-1 protein that assists in constructing fibrous filaments which are present in portions of the fibers in connective tissue (Frey R, Lutwick
imperative to understand how the body is affected by it, the symptoms, and the treatment of this condition. According to “Heart Disease and Marfan Syndrome” (n.d.) Marfan syndrome is caused by a change in the gene that controls how the body makes fibrillin, a part of connective tissue that contributes to its elasticity and strength. It is also stated that Marfan syndrome is mostly inherited from a parent, but 1 in 4 cases occurs when the patient has no known family history of the disease. To add, the
gives skin its color. Merkel's cells are probably involved with touch reception. Example of Cell Specialization: After the skin, there is a layer called the dermis. The dermis is a broad layer of fibrous and elastic tissue (made mostly of fibrillin, elastin, and collagen) which gives the skin its flexibility and strength. The dermis incorporates nerve endings, sweat glands and oil glands, hair follicles, and blood
unknown. However, it is thought to be due to a degenerative process of the abdominal aorta caused by atherosclerosis. Artherosclerosis represents a response to vessel wall injury caused by inflammation, genetically regulated defects in collagen and fibrillin, increased protease activity within the arterial wall, and mechanical factors (Stoelting p. 143). Pathophysiology The abdominal aorta consists of three distinct tissue layers including: the intima, media, and adventicia. There is a reduction in