Fibrillin Essays

About 1 in 5,000 people have Marfan syndrome and about 3 out of 4 people with the syndrome will inherit it. Marfan syndrome is a genetic disorder that will affect the body’s connective tissue. The connective tissue in the body is what holds and supports organs and tissues together. The damages along with the disorder can be mild or severe. Marfan syndrome will affect everyone equally, men and women. No matter what the race, ethnicity or age. With age the disease will worsen. The greatest risk factor

Marfan syndrome is a genetically inherited disorder that affects the human connective tissue. Connective tissue is the material present between the cells of the body, thus giving strength and flexibility to the body. Since connective tissue is found all over the body, multiple organ systems are affected. Marfan syndrome is an autosomal dominant genetic disorder, where abnormality in the gene causes a myriad of clinical features mainly affecting the skeletal system- bones and muscle, cardiovascular

and tissues together. This disease is caused by mutations in a gene called “FBN1”. This gene holds the information to make a protein known as “fibrillin-1”. This protein is responsible for repairing tissues and controlling the growth throughout the body. The FBN1 gene is responsible for this mutation. This gene can reduce the amount of healthy fibrillin-1 proteins, thus resulting in instable tissues

systems, like the lungs, skeleton, heart, eyes, and arteries. These parts affected may sound like they are unrelated but they are all affected by a mutation in a single gene on Chromosome 15. This gene is named FBN1 for the protein it encodes, fibrillin-1. What causes this mutation is the amino acids that builds proteins mix up a certain code on each protein and it makes the wrong amino acids that are put on the proteins. Marfan’s Syndrome can be inherited if one of the parents is affected but only

blood vessels, bones, joints, and eyes. (Marfan Foundation) But it affects each person differently. Marfan can be life threatening, as it affects the lungs, skin, and nervous system. Marfan is a change, or a mutation, in the gene that makes Fibrillin. Fibrillin is a protein that plays a huge roll in your connective tissue(NIH). You can only inherit Marfan(NIH),

she eventually has children.   Marfans Syndrome is a genetic disorder that affects the bodies connective tissue in the body. Connective Tissue hold the body's cells, organs and tissue together. The protein that is involved with marfans syndrome is Fibrillin-1(FBN1) A mutation or change in the gene that controls how the body makes FBN1causes Marfans. Due to the fact that connective tissue is all over the body, Peoples symptoms and problems vary. The symptoms may include Heart and blood vessel complications

However a single non-conservative mutation (Arg345Trp) in the gene EFEMP1 (for EGF-containing fibrillin-like extracellular matrix protein 1) was found to be responsible for ML.4 However, the diagnosis of ML is clinical. On fundus examination, the most prominent feature of ML is the development of small and large drusen which can develop as early

Choroidal neovascularization in MalattiaLeventinesediagnosed using Optical Coherence Tomography Angiography Rita Serra, (1, 2), Florence Coscas,(1), Nabil Messaoudi, (1), Mayer Srour, (1), Eric Souied, (1) 1 Department of Ophthalmology, Centre Hospitalier Intercommunal de Creteil University Paris Est Creteil, Creteil, France 2 Department of Surgical Sciences, Eye Clinic, University of Cagliari, Cagliari, Italy Corresponding author: Florence Coscas, Department of Ophthalmology, Centre Hospitalier

The skin is the largest organ of the body, covering about 1.7 m2 and comprising approximately 10% of the total body mass of an average human being. The primary function of the skin is to provide a barrier between the body and the external environment. This barrier protects against a range of noxious assaults like UV radiation, mechanical, chemical and biological insults like allergens and microorganisms. Its physical strength and elasticity provide optimal mechanical support; semi-permeability to