Fibrillin

in childhood and at maturity (Timble & Saal, 2013). According to Yip and Sawatzky (2014), analysis from an earlier research indicated the trigger of MFS was supposed to be chiefly related to the mutation in the fibrillin-1 (FBN-1) gene on chromosome 15 resultant in aberrant fibrillin building that triggers the connective tissue condition, while current research has indicated dysfunctional converting growth factor (TGF)-β cytokine depicts added crucial function in the extracellular matrix homeostasis

FBN1 helps control the regulation of the protein Fibrillin-1. Fibrillin is a major part of the connective tissues. Fibrillin in concert with other proteins make up the microfibers that give flexibility and strength to the connective tissues. (NIH, 2012) Fibrillin also helps control the growth and repair factors throughout the body's tissues and organs. Too much growth factor from uncontrolled Fibrillin production leads to overgrowth of the tissue, over flexibility and therefore

disorder2. De novo mutation occurs in about 25% of all Marfan syndrome cases3. It is estimated that in New Zealand Marfan syndrome affects about 1 in 10,000 individuals4. What gene(s) are involved? Marfan syndrome is caused by a mutation in the fibrillin-1 gene (FBN1) at band 21.1 on the long arm of chromosome 152. The FBN1

Introduction: Striae distensae, commonly referred to as ‘stretch marks’, is an extremely common skin condition characterized by parallel dermal scaring. The scarring is aligned perpendicular to the direction of skin tension and accompanied by epidermal atrophy. According to Elsaie, Maumann & Lofty (2009), striae distensae are two and a half times as frequent in women and affect up to 90% of pregnant women. and the abdomen and breasts during pregnancy. Anatomical Basis and Function: Gilmore and

The purpose of this paper is to discuss the function, structure, synthesis and the use of the protein elastin (ELN), which encodes for one of the two elements of elastic fibers in the human body (NCBI 1). Addressing the fundamental aspects of the protein will allow us to explore the potential applications and implications of the protein if it has been modified. Introduction and Function Elastin is the one of the key components in the elastic property of tissues found in human tissues such as

According to my research, client in the case scenario is potential to evolve into the Marfan syndrome (MFS). According to the Marfan Foundation the diagnosis of Marfan syndrome based on a set of defined clinical criteria which are known as the Ghent nosology and systemic score. These criteria help to facilitate accurate recognition of the syndrome. The 2010 Revised Ghent Nosology for Marfan syndrome relies on seven rules which are based on the Marfan syndrome based on the two criteria: Four from

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 is a hereditary disorder of connective tissue, resulting in abnormally long and thin digits and also frequently in optical and cardiovascular( Mayoclinic.org). A ton of cases are not reported because even though they display

Just think if you could remember everything you read or remember every detail in a painting. People with Savant Sydrome are autistic, but some can do something extraordinary whether it has to do with art or just remember everything. There are a lot of intriguing diseases in the world; these include Marfan syndrome, Savant Syndrome, and Jumping Frenchmen of Maine. How did Marfan get its name? “Named after Antoine Marfan, the French doctor who discovered it in 1896, Marfan syndrome is a disorder

Morquio syndrome is an uncommon hereditary birth defect that is likely to happen in one of every 200,000 births. This illness may not be noticeable at birth. Some symptoms start between the years of 1 and 3. This syndrome is an advanced illness meaning that each year the child gets older this disease gets even worse. Morquio syndrome belongs to a group of syndromes named mucopolysaccharidosis (MPS). Morquio is also identified as MPS IV.In

There is no cure for Marfan Syndrome but people with Marfan Syndrome can live long fulfilling lives. Here are many ways that people live day to day with this disease: Heart and Blood Vessels: -Medications -Atenolol and Losartan -Tests (regularly) -Echocardiogram -Heart structures -Magnetic Resonance Angiogram -Segments of aorta -Transesophageal Echocardiogram -Ascending and descending thoracic aorta and heart valves -Sedation -Don’t over exert, light exercise recommended