Nothing good comes from the disease Marfan syndrome. It is awful in many ways but can be dealt with. Here is an introduction to Marfan syndrome. Marfan syndrome is a Single Gene Mutation and the gene that is mutated is FBN 1 (Fibrillin 1).The gene is located on chromosome 15 and the disorder’s mode of inheritance is autosomal dominant. This means that females and males are equally affected and that only one gene, “abnormal” gene is needed from either parent to be inherited in. Fibrillin 1 basically affects the elasticity of connective tissue. The gene makes many fibrillin proteins and these fibrillin proteins then join together to form a long, and string like object called microfibrils. The DNA changes for Marfan syndrome as stated before is the mutation of the gene FBN 1 (Fibrillin 1).There are a variety of mutations that cause Marfan syndrome, mutations being misspellings in the genetic code or “DNA” most being single letter changes that lead to a single amino acid change in the protein (Cold Spring Harbor Laboratory[CSH],n.d). There isn’t just one mutation, they’re a variety of mutations in the gene coding for FBN 1 and the mutations are unique pertaining to different individuals and families. These mutations lead to irregular shaped proteins, the irregular shaped protein being fibrillin and this leads to irregular shaped microfibrils.
FBN 1 being affected effects microfbrils which in turn affects the elasticit...
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...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.
Works Cited
1 http://www.dnalc.org/view/15956-What-causes-Marfan-syndrome-.html
2 http://chealth.canoe.ca/condition_info_details.asp?disease_id=250
3 http://www.aapos.org/terms/conditions/68
4 http://kidshealth.org/teen/diseases_conditions/genetic/marfan.html
5 http://orthoinfo.aaos.org/topic.cfm?topic=A00615
6 http://www.marfan.org/about/current-research
Marfan syndrome is an inherited disorder that affects the connective tissue of the body (“What is Marfan Syndrome?” n.d.). The connective tissue plays a vital role in supported the tendons, heart valves, cartilage, blood vessels, and more parts of the body (“Connective Tissue,” n.d.). “What is Marfan Syndrome?” (n.d.) explains that the condition has no cure, and those who have it lack strength in their connective tissue, affecting their bone, eyes, skin, nervous system, and lungs. Furthermore, Marfan syndrome is common, and it is imperative to understand how the body is affected by it, the symptoms, and the treatment of this condition.
The range and severity of symptoms and findings may be extremely variable, including among affected members of the same family. However, primary findings may include premature closure of the fibrous joints between certain bones of the skull, unusually flat, underdeveloped midfacial regions abnormally broad great toes, and/or malformation or fusion of certain bones within the feet. In some cases, Jackson-Weiss Syndrome may result from new genetic changes that appear to occur randomly for unknown reasons. In other affected individuals, the disorder may be inherited. Mutations in the FGFR2 gene cause Jackson–Weiss syndrome. The FGFR2 gene produces a protein called
Marfan syndrome (MFS) is known as an autosomal dominant hereditary disorder of connective tissue. Connective tissue helps support all parts of the body. It also helps control how the body grows and develops. Principal manifestations involve the ocular, skeletal, and cardiovascular systems. MFS is caused by mutations in the glycoprotein gene fibrillin-1 (FBN1) which is located on chromosome 15(Marcheix, 2008). There are many mutations that can cause Marfan Syndrome, but most common are missense in that they are single-nucleotide changes that result in the substitution of a single letter that leads to a single amino acid change in the protein. The change in the amino acid alters the shape of the fibrillin proteins. The irregularly-shaped protein then assembles into irregularly shaped microfibrils. Fibrillin is a major element of microfibrils, which store a protein called transforming growth factor beta (TGF-β), a critical growth factor. TGF-β helps control the proliferation of cells, cell differentiation, cell movement, and apoptosis. Microfibrils help regulate the availability of TGF-β, which is deactivated when stored in microfibrils and activated when released. The increase in TGF-β and abnormalities involving microfibrils causes problems in connective tissues throughout the body such as malformations and disfigurements of the ligaments, spinal dura, lens zonules, and lung airways(Marcheix, 2008). The heart is also greatly negatively impacted through a weakening of the aortic wall, progressive aortic dilatation or aortic disjointing can occur because of strain caused by left ventricular contractions.
Eisenmenger Syndrome (ES) is a heart defect that was first giving the name in 1897 (Fukushima, 2015). This syndrome happens when the birth defect is not treated before the lungs’ arteries become damaged. Eisenmenger Syndrome is named after Victor Eisenmenger a man who had a patient who showed symptoms such as, breathing complications and skin that was turning a bluish color. The autopsy of this patient lead him to discover a ventricular septal defect [VSD] (El-Chami, 2014), that causes a hole in the wall on the right and left ventricular. This is the defect that begins when signaling for pulmonary artery hypertension, which progresses into more advanced stages of ES. This birth defect eventually causes patients to have various
McKusick, Victor A., Cassandra L. Kniffin, and Joanna. "#268800-Sandhoffs Disease." Online Mendelian Inheritance In Man, 25 Mar. 2009. Web. 10 Feb. 2014. .
(Calendar 2013) Waardenburg Syndrome is a rare genetic disorder meaning that is caused by a mutation of genes. The disorder is classified as type I, II, III, or IV based on inheritance pattern and symptoms (Genetics 2013). Waardenburg Syndrome is an incurable disorder that is inherited from either one or both parents. If it came from one parent, it is an autosomal dominant pattern and if it came from both, it is known as an autosomal recessive pattern (Calendar 2013).
A. NF is caused by a mutation in the NF1 gene, which creates the protein neurofibromin.
Steven-Johnson Syndrome (SJS) is an immune mediated hypersensitivity complex, most often triggered by medications (Foster, 2011). It is characterized by a prodrome of malaise and fever, followed by rapid onset of erythematous or purpuric macules and plaques. The skin lesions progress to epidermal necrosis and sloughing. Mucosal membranes are affected in 92 to 100 percent of patients, usually at two or more distinct sites (High & Nirken, 2012).
Muscular Dystrophy is a genetic disorder in which your muscles drastically weaken over time. Muscles are replaced with “connective tissue,” which is more of a fatty tissue than a muscular one. The connective tissue is the tissue that is commonly found in scars, and that same tissue is incapable of movement. Although Muscular Dystrophy affects muscles in general, other types affect certain groups of muscles, and happen at different periods throughout a lifetime. For example one of the most common types, Duchenne Muscular Dystrophy, targets muscles in the upper thigh and pelvis. The disease is displayed throughout early childhood, usually between ages four and seven. This genetic disorder occurs only in boys. People have difficulty sitting up or standing and lose their ability to walk in their early teens. Sadly most people die by the age of twenty. A second common type, Becker’s Muscular Dystrophy affects the same muscles as Duchenne, but first appears in teenage years. Most people with Becker’s only live into their forties (Fallon 1824-1825).
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. It is imperative that nurses have a greater understanding of Marfan syndrome in order to facilitate a genetic referral for an early and accurate Marfan syndrome diagnosis. This should include the mechanism of how this genetic mutation manifests thought out the body, the presenting symptoms, the risk factors, treatment, and education needs of the patient.
...ld die during childhood or survive into adulthood. (“NINDSS Muscular Dystrophy Information Page,” 2014 April 19)The lifespan of a person with the disease is dependent on the severity and amount of treatment of muscular dystrophy. With new research being done constantly there is new hope every day that a cure for muscular dystrophy will be found. (“New knowledge about Muscular dystrophy,” 2014 May 5)
SMA is a genetic disease. It is caused by a missing or mutated gene, the survival motor neuron gene 1 (SMN1). Without the mutation, the gene produces protein, survival motor neuron (SMN) protein. People with this mutated gene have significantly lower amounts of this protein, which in turn causes severe motor neuron problems. “Motor neurons are nerve cells in the spinal cord which send out never fibers to muscles throughout the body.” SMN is a critical protein to motor neuron survival and health. Without this protein nerve cells may shrink and eventually die, resulting in muscle weakness. As children with SMA grow it becomes difficult for their already weak muscles to perform daily activities. As a result their muscles continue to get weak, their bones and spine may continue to change resulting in breathing problems and further loss of function. SMA affects the motor neurons so the brain is never affected (Understanding Spinal Muscular Atrophy). This disease is not as rare as one would think about one in 40 people unknowingly carry this disease (Spinal Muscular Atrophy).
Babies can get Hydrocephalus from inherited abnormalities or developmental disorders. The prognosis for people diagnosed with Hydrocephalus is hard to predict. Affected individuals should know that hydrocephalus poses risks to both the brain and physical development. If hydrocephalus is left untreated, it could be fatal (ninds.nih.gov).
In 1942 Doctor Harry Klinefelter wrote a paper about some men who he found had strange symptoms. These symptoms included very little facial/body hair, small testes, and an inability to produce sperm. Seventeen years later in 1959 the extra X chromosome that is characteristic of the condition was discovered. Klinefelter Syndrome is a condition that affects male chromosomes. Humans in general have about 46 chromosomes in total. Out of these 46, only two will determine if a person will be male or female. The sex chromosomes in women typically present as XX, while the sex chromosomes in males present as XY. With Klinefelter syndrome, also known as (47, XXY) and XXY Syndrome only males are able to affected with this chromosomal condition where they end up with an extra X chromosome on almost all of their cells.
Cardiofaciocutaneous syndrome is a very rare and serious genetic disorder that generally affects the heart, facial features, and skin of an individual. It is caused by a desultory gene mutation, which takes place in one of four genes. Those genes are known as BRAF, MEK1, MEK2, and KRAS. From research, it is also suspected there is a possibility that other genes are associated with the rare condition. This disorder holds multiple alternative names, a long history, obvious symptoms, extensive amounts of interesting data, and is lucky enough to be supported by numerous organizations that will stop at nothing to help.