Marfan of the disease include curved spine, chests that

Marfan syndrome is a genetic
disorder that affects the body’s connective tissues, such as bones, ligaments,
muscles, and blood vessels, due to a mutation of the FBN1­ gene.1 FBN1­
codes for fibrillin-1, a protein that makes up the fibers of connective
tissues in structures called microfibrils. 2 Fibrillin-1 also stores
growth factors, such as transforming growth factor beta (TGF-), that are
periodically released for growth and repair.1

When
the FBN1 gene is mutated, fibrillin-1
releases an increased amount of TGF-, which causes
characteristic symptoms such as elongated arms, legs, and fingers and tall body
type.1 The mutation also leads to problems in the heart and blood
vessels due to weakened muscle fibers.2 Signs of the disease include
curved spine, chests that sink in or stick out abnormally, crowded teeth, and
flat feet.1 Many affected individuals have eye problems, such as a
degree of nearsightedness, dislocated lens, early glaucoma, and early
cataracts.1 Life-threatening symptoms, which can present right away
during childhood or in some cases present later into adulthood, include aortic
enlargement (expansion of the heart’s largest artery), risk of aortic
dissection and aneurism, due to weakening of the aortic muscle, and heart valve
leaks, which can cause shortness of breath, fatigue, and irregular heartbeats.2

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Marfan
syndrome affects about 1 in 5,000 people, and has been diagnosed in males,
females, and various ethnic groups.1 Mutations for the disorder are
inherited in an autosomal dominant pattern, meaning that inheritance of one
defective allele will cause symptoms.2 The disorder exhibits
variable expression, meaning it affects different individuals with varying
levels of severity and can affect different parts of the body depending on the
case.1 Although the majority of cases are inherited, about 25% of
cases are the result of spontaneous mutations in the FBN1 gene.2

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