Marfan Syndrome Research Paper

This syndrome is not very common, because it is a rare condition. Its prevalence is not certain, but the proximate amount is 5 to 10 individuals per million newborns. Research workers appraise that there are approximately 200 to 300 individuals around the world who have this disorder. It is observed with equivalent recurrence in both males and females over all ethnic groups.

The FBN1 gene is responsible for providing instructions for the production of fibrillin-1, which is a protein that is secreted into the matrix of connective tissue (“FBN1,” 2015). Therefore, a mutation in this gene can cause the excessive production of fibrillin-1, and when fibrillin-1 binds to other proteins they form threads called microfibrils. Microfibrils contain a growth factor called transforming growth factor beta or TGF-β (“FBN1,” 2015), so when there is an increase of TGF-β, problems with the connective tissue throughout the body can occur (“What is Marfan Syndrome? | The Marfan Foundation,” n.d.), more of these problems will be elaborated upon further in the report. The genetic mutation in the FBN1 gene is usually hereditary, but it is possible for one to be the first in their family to have this genetic mutation. If one has this mutation

Marfan Syndrome, which is named after Antoine Marfan who first described the disorder in 1896, is a genetic disorder that affects the connective tissues found throughout the body. This syndrome can affect many different parts of the body, but the most commonly affected are the heart, blood vessels, bones, joints, respiratory system, nervous system, and eyes. Thankfully, a person’s intelligence is never affected. Marfan syndrome affects people from all races and ethnic backgrounds, and this often makes it hard to detect. It is a pretty rare genetic disorder affecting only about 1 in every 5,000 people.

Marfan syndrome is a genetic mutation of the FBN1 gene which codes for a protein that contributes to the connective tissue in the body and releases certain growth hormones (Callewaert et al., 2007). A mutation in this gene contributes to a variety of signs and symptoms usually involving skeletal deformations like long bone overgrowth, causing elongated limbs and spinal conditions like scoliosis and kyphosis (Callewaert et al., 2007). Retina detachment is common in those with Marfan syndrome and cardiovascular complications may include aortic dilation, dissection and rupture and up two thirds of patients develop mitral valve dysfunction (Callewaert et al., 2007). R.C. has experienced detached retinas,

These characteristics can gradually diminish as the child ages, but it is important to note that diagnosis does not change because of this.

Autosomal dominant LGMD occur less often than recessive dominant LGMD. In the metabolism myotilin gene mutations occur, it may be due to a deficiency of vitamin B12, vitamin E, folate or exposures to nitrous oxide. LGMD 1A disease normally occurs from the age 42 to 77, and develops in the same areas (hip, shoulder and back) however, it could spread to the leg muscles. Due to the fact that myotilin gene is mutated, it causes focal myofibrillar destruction to occur, and this results in intracytoplasmic deposits to float around in the blood stream. In one case study done in Barcelona in 2011, there were 13 patients who were all diagnosed with myotilin gene mutation disease. The results showed that the deposits of myofibrillar became immune to myotilin and cluster up the vacuoles and interfere with the Z-lines. Overall the study revealed that each patient shared the same phenotypic characteristics, LGMD 1A and myofibrillar myopathy variations which emphasizes that LGMD is a developing neuromuscular disorder (Montse,

Myopia (nearsightedness) is one of the most common symptoms of the disease. Other symptoms occurring in the eyes include dislocated lens, detached retina, risk of early glaucoma and/or cataracts, and, if not treated, can result in vision loss. Symptoms of the cardiovascular system include a stretched or weakened aorta (aortic dilation or aneurysm) due to defective connective tissue and defects in heart valves. An example of a valve defect is mitral valve prolapse in which one or both cusps of the mitral valve swells or collapses into the left upper atrium when the heart contracts. Cardiovascular symptoms can lead to arrhythmias, congestive heart failure, and chest pain. There are also some effects on lungs, albeit not as common as other symptoms, in which the air sacs can become stretched and lead to an increased risk of lung collapse. The nervous system is also affected as dural ectasia, where the dura that covers the spinal fluid stretches and weakens, eventually leading the bones of the spinal column to wear away. Other symptoms are more obvious and affect the skeletal and connective tissue systems. Those with Marfan syndrome commonly have stretch marks and overgrowth of the

Joey Jones, a 14-year-old African American child who just seems too tall, is referred to genetic clinic. A physical exam revealed the following parameters and features:

Metabolic syndrome is becoming exceedingly popular; though it is debatable among experts as to whether or not it should in fact be considered a disease at all. Metabolic syndrome is better described as a group of risk factors for high blood pressure, high blood sugar, abdominal fat, and unhealthy cholesterol levels. To be diagnosed with Metabolic syndrome, you must have at least three of these risk factors, according to, WebMD, simply having one of these risk factors on your health is dangerous, but when you are at risk for all of them you may be in store for some serious health problems. Being diagnosed with Metabolic syndrome puts you at a high likelihood for blood vessel and heart disease. These factors in turn

The main issue is the aorta which is the main artery can increasingly enlarge and lead to a dissection which is when the aorta erupts and that can lead to death. About forty percent of people with marfan syndrome that have an aorta that erupts will die immediately. Even if you have surgery after the aorta dissects there is a ten to twenty percent chance you could die. Most people with this disorder should check that their aorta is not rapidly or increasingly growing. The normal size for an aorta is about an inch, if it gets bigger than 4.7 centimeters, then it would be a good idea to get surgery. Luckily, most people that have to have a non- emergency surgery have a 98% or greater chance of success. There are usually two types of surgery they can do to replace the aorta. The first one is the traditional method which is where they replace the aorta and put in graft and replace the aorta valve with a mechanical valve or the valve sparing method where the replace the aorta with a tube graft and re- implant the original valve. Surgery is very necessary for people with enlarged

In regular, healthy people the filament discharge growth factors at the right time, but individuals who have Marfan syndrome are ending up having the discharge happen too soon. This early release of growth factors gives the person's abnormal lengthy limbs. This gene does not discriminate on age, ethnic group, or gender; anyone can be affected. 1 in every 5,000 people in the United States are diagnosed with Marfan syndrome (NIH, 2010). Strangely, it is uncommon in other countries. One parent with the genetic disorder has a 50 percent probability of passing it to his or her offspring (Frey R, Sims J, 2010). Marfan syndrome is largely inherited, although about 30 percent of diagnosed reports have described various mutations of the FBN1 gene in people with no family history of the disorder (Frey R, Lutwick L, 2009). Individuals with this disease can live an average life span if they receive the proper diagnosis and treatment. Early detection and treatment is essential for people with Marfan syndrome because it can cause heart problems which can produce other horrible symptoms. Some patients who even do treatment may die at a young age due to heart problems. The life expectancy of people with Marfan syndrome has increased due to new medications and surgical procedures for the heart (Frey R, Lutwick L,

There are many things that can cause a disease. Marfan syndrome is caused by a mutation in the fibrillin-1 gene. The gene produces a protein that is essential for formatting the elastic fibers found in connective tissue. About 75 percent of people with Marfan syndrome inherit the mutation from one affected parent. A parent who has

“Marfan syndrome is a genetic disorder that affects the body’s connective tissue.” (Marfan Foundation, 2014) Connective tissue serves a crucial role in the functions of the human body. More specifically, connective tissue is what holds together the cells, organs, and tissue in the human body. Due to its structural significance, it also helps the body to develop and grow properly. “Connective tissue is made up of proteins. The protein that plays a role in Marfan syndrome is called fibrillin-1.” (Marfan Foundation, 2014) Marfan syndrome stems from a mutation within the gene that codes for fibrillin-1. This mutation increases the production of a protein called “…transforming growth factor beta…” In response to the increase of this protein, problems in connective tissues result, therefore causing Marfan syndrome. (Marfan Foundation, 2014)

Morquio syndrome is treated in several ways, because the disorder can disturb quite a lot of body systems. Depending on the intensity of the illness the treatment is different. Some children may only need cautious observing. Others might need non-surgical or surgical treatments to address precise features of their condition.

There is no cure for Marfan syndrome. To develop one, scientists may have to identify and change the specific gene responsible for the disorder before birth. However, a range of treatment options can minimize and sometimes prevent complications. The appropriate specialists will develop an individualized treatment program; the approach the doctor’s use depends on which systems have been affected.