Marfans Syndrome

Autosomal rececieve inheritance This happens when an affected parent has one recessive gene and one dominant gene whereas the other has two recessive genes, which allows two children to get two recessive genes meaning they will not be affected. Whereas the other two have one dominant gene meaning they will be affected by the disease.

(Giarelli, Bernhardt, & Pyeritz, 2010, Lashley, 2007 ,Canadas et al., 2010). The mutant gene is found on an autosome consequently, the syndrome can affect males and females equally. While, only one copy of the mutant gene is necessary for the disorder to be present (Lashley, 2007). Fibrillin-1 is a large gene, made of complex glycoproteins that are responsible for the flexibility and strength of connective tissue (Giarelli, Bernhardt, & Pyeritz, 2010 & Gonzales, 2009). Fibrillin-1(FBN1) is most abundant in the cardiac, ocular and, skeletal system throughout the body. This glycoprotein can also be found in elastic and non- elastic tissues and is a chief component of microfibrils. Microfibrils maintain cellular bonds in the extracellular matrix and form the framework of elastic fibers in the aorta and ligaments of the musculoskeletal system and multiple organ systems (Keane & Pyeritz, 2008). These microfibrils consist of the structural parts that support the ligaments in the ocular lens and have a load-bearing role in elastic arteries (Chen & Buehler, 2010). As a result of the mutation in the FBN1 gene abnormalities occur in the microfibrils and can cause faulty connective tissue. The mutations were thought to create weakness of the aortic wall, lens dislocation, joint hyperlaxity and, widening

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

There is no cure for cystic fibrosis, but treatment can ease symptoms and reduce complications. Close monitoring and early, aggressive intervention is recommended. Medications can be used such as antibiotics to treat and prevent lung infections, bronchodilators to help keep airways open, mucus-thinning drugs to help loosen the mucus so the patient can cough it out, and oral pancreatic enzymes to help the digestive tract. Chest PT helps to loosen the mucus.

Muscular Dystrophy Scientists have been struggling with the cause, treatment of, and cure for Muscular dystrophy since its discovery in 1886, by Dr. Guillaume Duchenne. Muscular dystrophy is a hereditary disease, affecting thousands of people every year, two-thirds being children between the age of birth through adolescents. Muscular dystrophy can also

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.

Akash Srivastava Period 1 Honors Biology Unit 5 Capstone: In Sickness and in Health: A Trip to the Genetic Counselor Part 1: Pedigree Construction: Part 2: Autosomal Dominant Traits: Part 3: Autosomal Recessive Traits: Part 4: Sex-Linked Inheritance: Part 5: Population Genetics: (SKIP) Part 6: Unsettled Issues: Part 1: Pedigree Construction: Part 2: Autosomal Dominant Traits: 1. Do autosomal dominant disorders skip generations? No autosomal dominant disorders do not skip generations; they pass on through each generation. If parents have a child, their child will receive the same autosomal dominant disorders that the parents had. And the opposite, if the parent don’t have any autosomal dominant disorders, then the child won’t have

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.

Evidence Based Practice: Marfan Syndrome 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,

Marfans Syndrome is a disease that results from a change of a person's DNA that can be classified as a genetic disorder. The change can be every minute, such as a single mutation in a particular gene or complex also the addition or removal of a complete chromosome. Marfan syndrome

In ARPKD, the chances of passing down the disorder is 25% if both parents are carriers for the disorder. If only one parent has the disorder it is impossible for the child to have it because it is recessive. However the child can be a carrier and pass the mutated gene down to the next generation. If you are both homozygous for the trait then the chances that you will pass on the trait is 100%. If you and your spouse both don’t have the trait at all then the chances of passing down the trait is 0%. (Used a Punnet Square)

Marfan Syndrome Have you ever wondered about the diseases that you can get from your parents? One of these major diseases that can change someone’s life is called the Marfan Syndrome. Marfan Syndrome is a disorder of connective tissue that is inherited from the parents. The bones and circulatory system are usually the parts of the body that are longer and the ones that are changed because of the disease.

------------------------------------------------- MARFAN SYNDROME ------------------------------------------------- BY MELISSA STEVENS May 22, 2014 southeastern college Abstract Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly. About 1

Marfan syndrome comes with some unfortunate factors such as the signs and symptoms, test screening and diagnosis, and the prognosis also known as the outcome. First, signs and symptoms are crucial to identify as soon as possible. The symptoms of the disorder include, but are not limited to, flat feet, chest that sinks in or sticks out, thin and narrowed face, small lower jaw, nearsightedness, dislocation in the lenses of the eye’s, learning disability, and scoliosis or when the spine curves to one side (Board). However, identifying the symptoms of the disorder can prove difficult (Jay) since age is a crucial factor involved (“Marfan Syndrome”) and that the establishment of a specific, formal test still does not exist (Jay). In other words, doctors become aware of this disorder in people only when the noticeable signs occur caused by the disruption of the connective tissues. Also, the disorder is present at birth even though it may not be diagnosed until at a later time

In fact, there are more than 20 different signs and symptoms related to Marfan Syndrome (MFS). The most frequent signs to the syndrome are: skeletal system, eyes and nervous system.5 The Skeletal system is the framework of the body that consists of bones and other connective tissue. Most of the visible signs are connected with the skeletal system, such as weak wrist, long arms and