Marfan Syndrome Research Paper

Autosomal recessive inheritance is the third type known to cause muscular dystrophy, whereas both parents are carriers of the defective gene. For this reason the offspring have a 25% chance of being affected with both malformed genes, resulting in them being affected. The chance increases with cousin marriages.

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

     Recent studies show that this syndrome may be associated with changing craniofacial and skeletal muscle metabolism, such as blood flow, which causes the chronic fatigue and severe weakness. Another hypothesis is that an infectious trauma to the body, such as a virus, triggers the illness. However, with this syndrome being new, no specific virus has been identified. There is though a plot study that shows that there is possible inherited tendency toward the disease. This disease/syndrome has increased

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,

Stickler Syndrome , hereditary progressive arthro-opthalmopathy, is a connective tissue disorder that affects fibrillar collagen. It is a syndrome that effects the patients eyes, hearing, mouth, and joints. Stickler Syndrome is a genetic disorder of connective tissue that causes problems with development. Dr. Gunnar B. Stickler was the first scientist to describe the syndrome that we now know today as Stickler. The diagnosis of Stickler Syndrome is clinically based, and the first diagnosed case was discovered in 1965. Diagnostic criteria has been proposed for Type I Stickler Syndrome, but it has not yet been validated. The criteria are based on assigning points to patients based on their family history, clinical features, and molecular data. Any individual who scores greater than or equal

Apart from this, Marfan syndrome has several symptoms. However, the most prominent indicators affect the skeletal, cardiac, and optical systems. The entire fibrous connective can also be affected (4). Other signs include extreme nearsightedness, an abnormally curved spine, flat feet, excessively limbs, and extraordinary and overcrowded teeth. The central cause of the condition is a deficiency in the gene that enables the human body to produce the fibrillin protein, which provides the connective tissue the strength and power to support the body organ (4). Along with this, an individual inherits the abnormal from parents who had the disorder, and the condition can occur in men and women in all races as well as

Affecting as many as one in every 10,000 to 20,000 people (“Donohue”), Marfan syndrome is one of the most common genetic abnormalities. Despite the fact that a cure has not been discovered yet, medical researchers as well as doctors are striving their best to prevent or slow the symptoms of Marfan syndrome and to reduce the complications as well.

The effects of Marfan Syndrome stem from the mutation of a gene that codes for the formation of fibrillin-1 (FBN-1), a specific protein. Furthermore, this mutated protein’s deficiency causes a compensatory functioning of Transforming Growth Factor-beta (TGF-b). This increase in production of TGF-b sparks issues with connective tissues that accumulate throughout the body, hence Marfan Syndrome.

Marfan syndrome is caused by a gene mutation. You can inherit the gene mutation from your parents or the mutation can happen on its own.

Considered a heritable connective tissue disorder, there is no known cause and currently no genetic or biochemical testing available for EDS-HT. Currently, diagnosis by the medical professional relies on the ruling out of Marfan Syndrome

The early and most common form of AMD is called dry (atrophic) or nonneovascular macular degeneration. About 90% of AMD cases are known to be in this form. This form does not involve abnormal blood vessels and or leaking of fluid. Vision impairments are still great and potential of complete vision loss is still possible. People affected by dry AMD experience central vision impairments, limited area of central vision, and limited vision when in areas of reduced light. Dry AMD is thought to be the result of the retina breaking down because of the formation of deposits, known as drusen, under the macula. The macula is a small area within the retina that is responsible for central vision. It’s believed that these deposits interfere with vitamin transport, oxygen transport, and waste removal in the aged eye directly affecting the macula causing it to thin and dry out, losing its function. Depending on how severe this thinning and degeneration of the retina is, vision impairments will vary. Macular degeneration in its early stages is associated with minimal vision impairments, large drusen, and other pigmentary abnormalities in the macula. Drusen are deposits of fatty proteins that accumulate below the basement membrane of the retinal pigment epithelium. People over the age of 50 years have at least one small hard drusen in one or both eyes. People with large, soft drusen are the ones at high risk for AMD. Hard

As an adolescent I noticed that I had longer fingers than normal and shortness of breath. After going to the doctors I was diagnosed with Marfan Syndrome. Marfan Syndrome is a genetic disorder that affects the connective tissue due to a defect in the gene that creates fibrillin. Fibrillin is a primary protein in connective tissue. Marfan Syndrome although present at birth is usually not diagnosed until adolescence, and I was unaware of my family history with the disease as I did not know my father. The doctor discovered that my shortness of breath was due to a weak aorta and leaking heart valve. As there is no cure for Marfan Syndrome my body is unable to naturally maintain homeostasis. I was put on beta blockers

Retinitis Pigmentosa 3 is blindness caused by the progressive death of rod and cone photoreceptors in the retina. This is a genetic disease, that can be inherited in autosomal dominant, recessive

Ocular signs and symptoms of PMD differ due to the severity of the condition. Patients are typically asymptomatic, except for the progressive deterioration in uncorrected and spectacle corrected visual acuity caused by the development of irregular astigmatism induced by the corneal ectasia. Similarly, to our

Leber’s Hereditary Optic Neuropathy (LHON) is a disease caused by a point mutation in the mitochondrial genome, it is maternally inherited and largely affects males of young ages.1 LHON presents acutely or subacutely in affected individuals, the age of disease onset or vision loss is usually between the ages of 8 to 60 years.2 The onset of LHON involves the loss of central vision in affected individuals, sometimes bilateral central vision loss.1 Leber’s Hereditary Optic Neuropathy can affect one eye first and can gradually affect both eyes, there can be a total loss of vision or progressively over approximately 3.7 months.2 Among the mutations causing Leber’s Hereditary Optic Neuropathy, mutation np 11778 or LHON11778A is the most severe and common. 2According to The clinical characteristics of pedigrees of Leber 's hereditary optic neuropathy with the 11778 mutation, by NJ Newman, affected individuals with this particular mutation had visual acuities of 20/200 or poorer in approximately 98% of eyes screened in the study.2