How and why does someone have Marfan Syndrome?
You must be very curious of the causes of Marfan Syndrome because most of us have never heard of it. OK here we go..
Marfan syndrome is caused
by a defect or mutation in the gene that determines the structure of
fibrillin-1 known as the FBN1 gene. 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
disorders.
Did you know a person with Marfan syndrome is born with the disorder? Yes, even though
it may not be diagnosed until later in life. In addition, the defective gene
that causes Marfan syndrome can be inherited meaning the child of a person who
has Marfan syndrome has a 50 percent chance of inheriting the disease.
Next cause of Marfan syndrome is a new gene defect that occurs during the formation of sperm or egg cells
that makes it possible for two parents without the disease to have a child with
the disease but this is RARE.
Fun fact: Do you know that two unaffected parents have only a 1 in 10,000
chance of having a child with Marfan syndrome.
Possibly 25 percent of cases of Marfan syndrome are
due to a spontaneous mutation at the time of conception. Although everyone with
Marfan syndrome has a defect in the same gene but different mutations are found
in different families and not everyone experiences the same characteristics of
Marfan syndrome. In other words, the defective gene expresses itself in
different ways in different people. This phenomenon is known as variable
expression.
OK let's recap. Which gene mutation causes Marfan Syndrome?
A. CFTR gene mutation
B. FBN1 gene mutation
C. Beta Globin gene mutation
Whats your answer?
YESSSS THE ANSWER IS B. FBN1 GENE MUTATION!!!
👏👏👏👏👏👏👏👏👏👏👏
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