A genetic disorder is a genetic condition, originally caused by a DNA abnormality. Genetic disorders can be inherited or can form early, in the development of child’s womb. Marfan syndrome is a genetic disorder that came from a French doctor named, Antoine Marfan. He first discovered it when he noticed a five-year-old girl, with symptoms of Marfan syndrome. He would later go on to describe this disorder. Marfan syndrome is a genetic disorder that affects the body’s connective tissues in many parts of the human body. The connective tissues are the tissues that provide strength and flexibility to many structures such as the bones, blood vessels, ligaments, muscles, and the heart vessels. Connective tissues also allow the body to grow and develop
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“Marfan syndrome occurs when there is a mutation in the gene, specifically what tells the body how to make fibrillin. This gene is called, FBN1. “This mutation results in an increase in a protein called transforming growth factor beta, or TGF-β. The increase in TGF-β causes problems in connective tissues throughout the body, which in turn creates the features and medical problems associated with Marfan syndrome and some related disorder” (9). In the human society, Marfan syndrome occurs in 1 in every 5,000 humans. Unlike other genetic disorders, Marfan syndrome is one of the disorders that affects both girls and boys. This includes all races and ethnic groups. Individuals are more prone to obtain this disorder through a parent who has this disorder. About ¾ (75%) humans obtain the disorder from their parents. The other 1/4 (25%) did not obtain it from their parents. “In these cases, neither parent has the disease. This means the genetic mutation responsible for causing Marfan syndrome occurs in either the egg or sperm cell at the time of conception”. This percentile also has a 50-50 chance to pass on this order to their offspring …show more content…
Some embrace it, some overlook it, stress over it, aim to get better and etc. This disorder might limit people to restrict from the hobbies and activities they once loved, stress more, becomes anti- social, and worst of all may result in self-harm or even death. As technology advances, we are getting smarter which allows us to find the cures to diseases faster, such as Marfan syndrome. Ultimately with proper treatment, each Marfan syndrome patient will live a long and happy life, but that is only if they obtain the proper care. Early detections can reduce the risk of complications and fatality. Not only does this disorder take a toll on individuals physically, but mentally and
“Marfan syndrome occurs when there is a mutation in the gene, specifically what tells the body how to make fibrillin. This gene is called, FBN1. “This mutation results in an increase in a protein called transforming growth factor beta, or TGF-β. The increase in TGF-β causes problems in connective tissues throughout the body, which in turn creates the features and medical problems associated with Marfan syndrome and some related disorder” (9). In the human society, Marfan syndrome occurs in 1 in every 5,000 humans. Unlike other genetic disorders, Marfan syndrome is one of the disorders that affects both girls and boys. This includes all races and ethnic groups. Individuals are more prone to obtain this disorder through a parent who has this disorder. About ¾ (75%) humans obtain the disorder from their parents. The other 1/4 (25%) did not obtain it from their parents. “In these cases, neither parent has the disease. This means the genetic mutation responsible for causing Marfan syndrome occurs in either the egg or sperm cell at the time of conception”. This percentile also has a 50-50 chance to pass on this order to their offspring …show more content…
Some embrace it, some overlook it, stress over it, aim to get better and etc. This disorder might limit people to restrict from the hobbies and activities they once loved, stress more, becomes anti- social, and worst of all may result in self-harm or even death. As technology advances, we are getting smarter which allows us to find the cures to diseases faster, such as Marfan syndrome. Ultimately with proper treatment, each Marfan syndrome patient will live a long and happy life, but that is only if they obtain the proper care. Early detections can reduce the risk of complications and fatality. Not only does this disorder take a toll on individuals physically, but mentally and