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.
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- Marfan Syndrome Marfan Syndrome is an autosomal dominant disorder mainly caused by defects in the gene FBN1 that codes for the protein fibrillin. Approximately 1 in 5,000 people are affected. Cardinal features involve the ocular, musculoskeletal, and cardiovascular systems. There is a high degree of variability of this disorder, sometimes presenting itself at birth or later in childhood or adulthood. On one end of the spectrum is severe neonatal presentation with rapidly progressive disease, while on the other end isolated phenotypic features may be the only presenting signs.... [tags: gene deffects, attributes, Turner Syndrome]
1506 words (4.3 pages)
- When assigned to study a disease, it was easy to choose because of having a family who is suffering with heart problems. Marfan syndrome hit home since my father was diagnosed, as well as, my first cousin. The causes of this disease are not specific with the exception of it being a genetic disease. However, the symptoms are quite easy to detect when the physician is made aware of family history. Since the causes are unclear, it is important that families know about these symptoms. This disease has no cure (Ho 1978), but when the symptoms are known to a person carrying the disease, a lifestyle can be developed which can allow the carrier to lead a fairly normal life.... [tags: health, genetic disease]
1384 words (4 pages)
- A disease that results from a change to an individual's DNA is classified as a genetic disorder. The change can be very small such as a single mutation in a particular gene or complex like the addition or removal of a complete chromosome. An instance of a genetic disorder that affects a particular gene is Marfan syndrome. Marfan syndrome is an inherited disorder which alters the connective tissue in the body (Frey R, Sims J, 2010). Individuals with this disorder are affected in multiple areas because connective tissue is present all through the body.... [tags: Health, Genetic Disorder]
1537 words (4.4 pages)
- Marfan syndrome is a primarily an autosomal dominant disorder that affects 1 in 5000 people worldwide. 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.... [tags: Health, Diseases]
2087 words (6 pages)
- Marfan Syndrome is a genetic disorder that affects the connective tissue in the human body. Connective tissue, which is composed of many proteins, is found all over the body and is responsible for a number of things. It provides nutrients, supports, and helps other tissues do their jobs (Fawcett). Fibrillin-1 is the protein that plays a role in the disorder. Marfan Syndrome occurs when there is a mutation on chromosome 15, in a gene called FBN1, that tells the body how to produce Fibrillin-1. Transformer growth factor beta, another protein, is produced in large quantities due to the mutation.... [tags: genetic disorder, connective tissue,fibrillin]
1206 words (3.4 pages)
- ... This condition is inherited in an autosomal dominant manner. From the proband’s family history, it appears that the mutation could be inherited from the paternal side of the family. Family members. 75% of people who have MFS have an affected parent. 25% of people with MFS have this condition due to a de novo mutation. Evaluation of parents is recommended if the proband is diagnosed with MFS. If one of the proband’s parents is diagnosed to have MFS then the risk to each of the proband’s siblings is 50%.... [tags: hereditary disoreder of connective tissue]
1854 words (5.3 pages)
- This essay will serve to introduce the topic of my Specialised Project and will highlight the structure that will be used to present its findings as well as briefly discuss the nature of each section and how it will relate to my final project. Given the subject matter of the dissertation it is apparent that a thesis is a suitable structure in which to explore the hypotheses that will be put forward. It will consist of a combination of theoretical and empirical research, i.e. based on observation and experiment.... [tags: Research Introduction]
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- Introduction Cornelia De Lange Syndrome is named after Dr. Cornelia de Lange, a Dutch pediatrician who saw two patients in a pediatric hospital presenting with the same symptoms and bearing a striking resemblance in their facial features. At the time, she could not find any literature containing similar cases and eventually, the syndrome was named after her. However, there was a case reported in 1916, which was more focused on deformities in the extremities as opposed to drawing focus to the unique facial features of the person with CDLS—which is probably the reason Dr.... [tags: DNA, Genetics, Cornelia de Lange Syndrome]
907 words (2.6 pages)
- If a person believes a loved one may have Asperger’s Syndrome, they should go through proper testing and, if the tests are positive, get an official diagnosis. The earlier it is detected, the better. The person then can learn coping skills and have therapy earlier on in life; it is especially helpful to have these services before puberty, however some people are diagnosed later on in life, especially females. Since both children and adults may be tested, there are Asperger’s Syndrome tests specifically for adults and those created specifically for children.... [tags: Asperger syndrome, Autism]
1085 words (3.1 pages)
- Down’s Syndrome and other mental disorders have faced much discrimination and medical advantages throughout the years. David Wright’s Down’s looks into these challenges and changes by investigating both the medical and social history of Down’s Syndrome. In the prologue, he states that when studying the history of a genetic syndrome it is easy to lose sight of the individual. The purpose of this book is to investigate “the medical and social history of Down’s Syndrome...while foregrounding the fact that the subjects of inquiry...were and are unique individual” (15).... [tags: Disability, Down syndrome, Person]
1081 words (3.1 pages)