Marfan syndrome- by Jacob Mitchell

Marfan syndrome

part 1: mutation story

I am a single cell in Isaiah’s body, Isaiah was born with me. I am what they call “a genetic disorder”. I affect the bodies connective tissue, the connective tissue is used to hold organs, tissue and all of us cells together. I cause the tissues be weakened, I feel bad for what I’m doing, but that’s what the nucleus is telling me to do. Marfan syndrome is caused from a defect or a mutation, in the gene that determines the structure of fibrillin-1, the gene is called FBN1. Fibrillin-1 attaches to other fibrillin-1 proteins and molecules to form threadlike filaments called microfibrils. I cause Isaiah Austin to have extra height, he is thinner than most, Isaiah has much larger hands and feet then most and he has an arm span that exceeds his height. Isaiah is a basketball player joining the NBA this year, in Isaiah’s case I am a benefit, because all of those attributes help basketball players. I usually find my buddies and I effecting bones, eyes, joints, heart and blood vessels. Isaiah can’t get rid of us, but he can get treated with an operation or surgery. We cause some pain, mostly in the joints though. We are a harmful syndrome because we cause pain, and the tissue is weaker, and also we give the body some defects.

 

 

Part 2: The Making of Mutation Story

I used a bunch of different questions like, how is the syndrome treated?, what is Marfan syndrome?, how does one get the disorder?, I used what happens to the gene?, what causes the mutation?, and Marfan syndromes effects on the body. I didn’t use many new tools, but I used a large variety of websites. During theprocess at the beginning I used the questions that helped me get started then, I looked at cool facts, and at the end I searched for more questions that I was curious about.
To verify the information I found I looked on a couple of different websites and if I saw the same stuff more than once, I assumed it was a true statement.
I think next time I do this project I will get to work earlier and not procrastinate as much, and also I would cite my sources better.

Questions:

Medicinenet.com
How does someone get the disorder? Marfan syndrome is caused by a defect, or mutation, in the gene that determines the structure of fibrillin-1, a protein that is an important part of connective tissue

Marfan.org
What is Marfan syndrome? Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together.

ghr.nlm.nih.gov
-Genetic information about Marfan syndrome
Fibrillin-1 attaches to other fibrillin-1 proteins and other molecules to form threadlike filaments called microfibrils.
-Individuals with Marfan syndrome are usually tall and slender, have larger fingers and toes and have an arm span that exceeds their body height.

Marfan.org
How is the syndrome treated?
Marfan syndrome can’t be cured, usually treated with operations or surgery.

My sources:

  • Marfan.org
  • ghr.nlm.nih.gov
  • medicinenet.com
  • http://emedicine.medscape.com/article/946315-overview
  • https://www.genome.gov/19519224/learning-about-marfan-syndrome/
  • https://www.niams.nih.gov/health_info/marfan_syndrome/marfan_syndrome_ff.asp

 

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