MASS syndrome

High school (ages 12+)
Human Body

Name:

Date:

Step 1 · Read the article

Open the article and read it at the level above. Then answer the questions below in your own words.

https://smallwhale.org/articles/mass-syndrome

Write what each word means, using the article.

Do not copy the article. Write two things you learned, the way you would explain them to a friend.

Answers below are taken from the article’s stored facts, so they match what the student read.

1. What is the genetic locus?FBN1 gene on chromosome 15q21.1
2. What is the protein product?Fibrillin-1, a key component of extracellular microfibrils
3. Why do people with MASS syndrome have stretch marks?Because the skin’s elastic fibers are weaker, the skin can stretch more easily and leave marks called striae distensae. These marks can appear even when a child isn’t growing very fast.
4. How is MASS syndrome different from Marfan syndrome?Both are caused by FBN1 changes, but people with MASS syndrome usually do not get the big, dangerous aortic enlargement that can happen with Marfan syndrome. They also rarely have the eye lens shift that Marfan patients often have.

Extracellular Matrix: The network of molecules outside cells that provides structural and biochemical support to surrounding cells.
Microfibrils: Fine, thread-like structures in the extracellular matrix composed primarily of fibrillin-1, forming scaffolds for elastic fibers.
Aortic Root Dilatation: An abnormal widening of the initial section of the aorta, the main artery carrying blood from the heart.
TGF-β Signaling: A crucial cellular communication pathway that plays a role in cell growth, differentiation, and tissue development, often dysregulated in connective tissue disorders.