The Protein I looked at was fibrillin-1 which mainly causes Marfan Syndrome, a connective tissue disorder.
This protein can also cause isolated ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome, and Shprintzen-Goldberg craniosynostosis syndrome.
Fibrillin-1 is a building block for elastic tissue in the body. This gene defect can also cause bones to grow too much, causing people to have long limbs. The two domains are in a rigid, its arrangement is rod-like, there are also calcium binding and hydrophobic interactions.It is a fairly simple structure.
Fibrillin is a glycoprotein, which is very important for the
development of elastic fibers (microfibrils) that provide strength and elasticity
to connective tissue in the human body. Connective tissue holds the body
together and helps control the growth and repair of tissues and other organs.
Fibrillin normally is abundant in the connective tissue found in the aorta, in
the ligaments that hold the lenses in
the eye's in place, in the bones and in the lungs.
This protein can also cause isolated ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome, and Shprintzen-Goldberg craniosynostosis syndrome.
Fibrillin-1 is a building block for elastic tissue in the body. This gene defect can also cause bones to grow too much, causing people to have long limbs. The two domains are in a rigid, its arrangement is rod-like, there are also calcium binding and hydrophobic interactions.It is a fairly simple structure.
This was very interesting I've never heard of this disease and you explained it well so even if i had no experience with diseases and proteins i could understand and get the main points of what this condition is like and what causes it.
ReplyDeleteJoe:
DeleteThank you, it was an interesting protein to look it. I wanted to look at something that caused a disease I randomly choose. So it was cool to learn about a disease I wasn't familiar with.
I've heard of this disorder before, I believe the famous wrestler Andre the Giant suffered from Marfan syndrome, hence his name. I thought it was interesting to read about other symptoms of the disease other then abnormal size. I assume people suffering from such a disorder must have a shorter life expectancies associated with the structural abnormalities discussed, nice job!
ReplyDeleteGrethcen:
DeleteThank you, I randomly chose a disease I wasn't familiar with. It allowed me to explore the disease and learn a few more things than the protein.