Introduction to the Marfan Syndrome

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Nothing good comes from the disease Marfan syndrome. It is awful in many ways but can be dealt with. Here is an introduction to Marfan syndrome. Marfan syndrome is a 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 object called microfibrils. The DNA changes for Marfan syndrome as stated before is the mutation of the gene FBN 1 (Fibrillin 1).There are a variety of mutations that cause Marfan syndrome, mutations being misspellings in the genetic code or “DNA” most being single letter changes that lead to a single amino acid change in the protein (Cold Spring Harbor Laboratory[CSH],n.d). There isn’t just one mutation, they’re a variety of mutations in the gene coding for FBN 1 and the mutations are unique pertaining to different individuals and families. These mutations lead to irregular shaped proteins, the irregular shaped protein being fibrillin and this leads to irregular shaped microfibrils. FBN 1 being affected effects microfbrils which in turn affects the elasticit... ... middle of paper ... ...esearch that improves diagnosis and treatment for all of the different body systems that are affected by the single gene mutation known as Marfan syndrome. This includes the respiratory system…the lungs, and the skeletal system…scoliosis, joints, and ligaments, visual… vision, and cardiovascular…the heart and the blood vessels like the aortic valve (Marfan Foundation, 2013). Genetic testing also helps to identify where the mutations are exactly and this can help with treatment advances for Marfan syndrome. Works Cited 1 2 3 4 5 6

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