Marfan syndrome

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, connective tissues are susceptible to breaking, ripping, or tearing (Atinder). Some areas that are more directly affected by Marfan sydrome are the heart, eyes nervous system, lungs, upper limbs, lower limbs, spine, check, joins, teeth, feet, and hands. Common features of Marfan syndrome very in severeness. On the less sever side of the spectrum, people with Marfan can suffer from disproportionately long upper limbs, lower limbs, and hands. Moving up you can find vision problems (nearsightedness - in some cases extreme), crowded teeth, flat feet, and sunken or protruding chest (The Marfan Foundation). All of these have the possibility of progress into much greater problems. A sunken chest can develop to the…

Marfan syndrome (MFS) is a genetic disorder which affects the connective tissue of the body. MFS is autosomal dominant, with “approximately seventy five percent of people” diagnosed with MFS having a parent that has the disorder. The other “twenty five percent” of people with MFS have developed this disease through new gene mutation (NIH. National Human Genome Research Institute). This disease is not specific to gender, race or region, and is potentially life threatening. MFS affects multiple…

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…

In philosophy, an often debated question involves whether or not the dead can be “wronged”. Slander is mostly agreed to be wrong, regardless of the character of the dead. However, could genetic testing have the same result? One great example is Abraham Lincoln. Lincoln fascinated physicians because of his remarkable stature (6’, 4”) which has been possibly linked to Marfan syndrome. Abraham Lincoln was unusually tall as a child and his extremities were disproportionately to his overall height;…

A genetic disorder is a genetic condition, originally caused by a DNA abnormality. Genetic disorders can be inherited or can form early, in the development of child’s womb. Marfan syndrome is a genetic disorder that came from a French doctor named, Antoine Marfan. He first discovered it when he noticed a five-year-old girl, with symptoms of Marfan syndrome. He would later go on to describe this disorder. Marfan syndrome is a genetic disorder that affects the body’s connective tissues in many…

On June 23, 1858 a well established Medical Practitioner named Antoine Prosper Marfan and his wife Adelaïde Thuries bought a new life into the world. Antoine Prosper and Adelaide’s son was named Antoine Bernard-Jean Marfan. Bernard’s father, Antoine Prosper had refused to accept his son’s choice in pursuing a career in the medical field. Prosper later gave up on arguing with his son and Bernard went off to study at a medical school in Toulouse, France. Two years went by and Bernard decided to go…

According to Merriam-Webster Marfan is defined as “a disorder of connective tissue that is inherited as a simple dominant trait, is caused by a defect in the gene controlling the production of fibrillin, and is characterized by abnormal elongation of the long bones and often by ocular and circulatory defects.” (Merriam-Webster, 2015) Genetic disorders have a wide range of symptoms and varying degrees of complexity, Marfan syndrome is no exception. In fact diagnosis of MFS can be difficult…

What is and what mutations cause Marfan Syndrome (MFS), are they pleiotropic? Introduction MFS is a pleiotropic syndrome. In this essay I will discuss what it is and how mutations affect its severity. MFS Pleiotropy is described as “one genetic locus manipulating several traits” -discounting linkage1. MFS is characterised by physical features of abnormal tallness and elongated fingers/toes. Sufferers have problems in organs including their eyes and spine, however, if the cardiovascular…

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…

doctor." Marfan Syndrome Marfan syndrome and related disorders affect the body’s connective tissue. Connective tissue holds the body together and plays a role in its growth and development. This disorder can affect many parts of the body since connective tissue is found all over the body. Bones, joints, eye, skin, lungs, the heart and blood vessels are few of the body parts Marfan syndrome affects. Marfan syndrome is caused by a mutation in a gene called the fibrillin gene. This mutation…