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, n.d.). 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. Transforming growth factor beta, another protein, is produced in large quantities due to the mutation. This then leads to defects in the connective tissue throughout the body. Since connective tissue is found all over the body, many problems can arise. These problems are all classified under the genetic disorder Marfan Syndrome (What is Marfan Syndrome?, n.d.).
Modes of Inheritance: Marfan Syndrome is a disorder that is inherited 75 percent of the time it occurs. The disease is passed down from generation to generation in families carrying the disorder. There is a 50 percent chance of a child acquiring the syndrome if a parent has it. Marfan Syndrome can also form during conception in either the sperm or the egg. This only happens 25 percent of the time, but the disorder can be acquired even if your parents do not have Marfan Syndrome. In this case, the gene mutates spontaneously (Gripp, 2011).
Epidemiology: Unlike many genetic disorders, Marfan Syndrome can be acquired by anyone. The disease is just as common in men as it is in women, so both genders are at risk. Also, the syndrome can occur in every race and ethnic group. Children are at the greatest risk for the disorder if their parents have it because there is a 50 percent chance the mutation would be passed down to them (Marfan Syndrome, n.d.).
Treatment: There is no cure for Marfan Syndrome, but there are treatments available to help manage the symptoms. Beta-blockers are often prescribed to help slow down the heart rate and reduce blood pressure. Surgery may also be necessary to repair any defects in the aorta or heart valves. Although nothing can be done to cure someone of the disorder, every symptom can be cured or at least weakened through a number of medical works (Mayo, n.d.).
References:
Fawcett, M. D. (n.d.). Connective tissue. Retrieved March 16, 2014, from http://www.britannica.com/EBchecked/topic/132995/connective-tissue
Gripp, K. W. (Ed.). (2011, July 01). Marfan Syndrome. Retrieved March 16, 2014, from http://kidshealth.org/teen/diseases_conditions/genetic/marfan.html
Marfan Syndrome. (n.d.). Retrieved March 14, 2014, from http://www.niams.nih.gov/Health_Info/Marfan_Syndrome/marfan_syndrome_ff.asp
Mayo Clinic Staff. (n.d.). Marfan Syndrome. Retrieved March 16, 2014, from http://www.mayoclinic.org/diseases-conditions/marfan-syndrome/basics/risk-factors/con-20025944
What is Marfan Syndrome? (n.d.). Retrieved March 15, 2014, from http://www.marfan.org/about/marfan
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.
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.
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.
(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).
DMD also known as muscular dystrophy is muscular disease that occurs on young boys around age four to six. Muscular dystrophy is genetically transmitted disease carried from parent to offspring. This disease progressively damages or disturbs skeletal and cardiac muscle functions starting on the lower limbs. Obviously by damaging the muscle, the lower limbs and other muscles affected become very weak. This is ultimately caused by the lack dystrophin, a protein the body produces.
treated to keep it in remission (APA). It is not just a mental illness, but a medical disease
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).
Rett syndrome is a progressive neurological disorder that affects almost exclusively in females. The most basic symptoms include decreased speech, cognitive disabilities, severe lack of muscle control, small head size, and unusual hand movements. A woman with a mutation in her MECP2 gene, has a 50% risk with any pregnancy to pass on her X chromosome with the mutation. It is not common for women with Rett syndrome to have children because the severity of the disorder. The mutated gene on the X chromosome that is responsible for causing Rett syndrome is the methyl CpG-binding protein 2, MECP2 gene. The gene makes a protein that controls other genes. When a mutation occurs in the MECP2, the protein it makes does not work properly. This is thought to counteract normal neuron, nerve cell development. The severity of the syndrome in females is related to the type of mutation in the MECP2 gene and the percentage of cells that carry a normal copy of the MECP2 gene. Rett syndrome is believed to affect all ethnic groups and nationalities with an equal frequency of about 1 case for every 10,000 to 15,000 live female births.
Heart Failure Overview WebMD Reviewed by Thomas M. Maddox, MD on May 28, 2012 http://www.webmd.com/heart-disease/heart-failure/heart-failure-overview
Quinn, P. (2012). Attention Deficit Hyperactivity Disorder: What Is ADHD?. WebMD. Retrieved on December 3, 2013, from
There are two different kinds of disorders, personality disorders and psychological disorders. Psychological disorders are illnesses that an individual experiences a restricted period in which they possess an illness. Personality disorders are long lasting traits that play a large role in the individual's personality (Rathus, 2010). No matter what kind of disorder a person may possess their lives are affected everyday by them. The disorder takes over their body and consumes them as a person. Disorders are oftentimes misunderstood. You do not have the ability to make a split second decision and then continue life without that disorder, it will take lots of counseling. Everyone has some kind of minute form of a disorder even
For almost all types of Albinism both parents or mates must carry an albinism gene in order for their child to have albinism. Because the body has two sets of genes, a person may have normal pigmentation but carry the albinism gene. If a person has one normal gene and one albinism gene that is still enough to pass the disease on to their children. Even if both parents have the albinism gene it does not mean they have the sickness. The baby will have a one out of four chance of getting the disease. This is inherited by autosomal recessive inheritance.
"Adenosine - What Is Adenosine?" Adenosine - What Is Adenosine? N.p., n.d. Web. 09 Mar. 2014.
University of Maryland Medical Center. (2013, December 18). What is a Pediatrician?. Retrieved September 12, 2014, from http://umm.edu/programs/childrens/health/about/what-is-a-pediatrician