| Inheritance | autosomal dominant |
|
Occurrence
|
1 in 10,000 Americans |
| Description | disorder of connective tissue affecting the heart, blood vessels, lungs, eyes, bones, and ligaments |
| Gene and Location | gene codes for fibrillin and is found on chromosome 15 |
Background:
This disorder is very similar to Ehlers-Danlos syndrome; it may be useful to introduce these disorders in conjunction with one another. As students study the layers of the skin (epidermis and dermis) and joints some attention should be paid to the role of fibrillin. Fibrillin is a protein which provides strength and elasticity and is very important in the mitral valve of the heart.
Activity:
Have students research the role of fibrillin in the body. Once they understand its importance have them hypothesize what the effects would be on an individual whose fibrillin did not function properly. After some discussion allow students to research Marfan syndrome specifically. There are many resources available on the Internet as well as a picture link below. Have students compare their hypotheses to the conclusions. Did any of them foresee the heart problems it could cause? Can your class now understand how important the role of every protein in the body is?
For more information visit Online Mendelian Inheritance in Man or the National Marfan Foundation. For pictures of this disorder visit Marfan Syndrome.
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