What happens in your cells when you have Marfan Syndrome?

Introduction 

Marfan syndrome is a genetic disorder that affects the body's connective tissues. The dysfunctional connective tissue in Marfan patients can result in problems related to cardiovascular complications such as valve prolapse, aortic insufficiency, dilatation of the aortic root, and aortic dissection [1]. But what happens inside of a Marfan cell and how can that lead to these cardiovascular problems? 

Our elastic cells

In the connective tissue there is a group of important cells called fibroblasts, these are our elastic cells that help important structures, such as our blood vessels, to become elastic and strong. But how does this work (Figure 1) [1, 2]? 

1. In the fibroblast cells there is one very important gene called the Fibrillin-1 Gene, this gene produces the fibrillin protein (fibrillin monomer).
2. A lot of fibrillin proteins come together to form a fibrillin polymer.
3. The fibrillin polymer that is now in the cells, lets elastic particles, called elastin, bind to the fibrillin polymer.
4. When the fibrillin polymer and elastin are coupled together, the cells have the final elastic molecule ‘Elastic Fibres’. These elastic fibres keep our structure elastic and strong. 

Marfan's Elastic Cells

In Marfan cells there is a gene defect on chromosome 15 in the Fibrillin-1 Gene. How does this become a problem (Figure 2) [3]?
The defect fibrillin-1 gene makes less or weaker fibrillin protein 

1. The fibrillin proteins that are present do not bind perfectly together, resulting in too few or too weak fibrillin polymers.
2. When the elastin binds to the weakened fibrillin polymer, the resulting elastic fibres are of low quality. 

Elastic Cells in my Blood vessels

The elastic fibres, resulting from fibrillin proteins, are present in tissues that can expand and contract in order to uphold their structures when under pressure. Examples of these tissues are blood vessels (Figure 3), skin and lungs [3]. In Marfan patients, cardiovascular problems arise due to the dysfunctional fibrillin. The blood vessels do not maintain their structure and become enlarged and weak, this can lead to the previously mentioned problems:

• Valve prolapse
• Aortic insufficiency
• Dilatation of aortic root
• Aortic dissection

Marfan's Elastic Cells

In Marfan cells there is a gene defect on chromosome 15 in the Fibrillin-1 Gene. How does this become a problem (Figure 2) [3]?
The defect fibrillin-1 gene makes less or weaker fibrillin protein 

1. The fibrillin proteins that are present do not bind perfectly together, resulting in too few or too weak fibrillin polymers.
2. When the elastin binds to the weakened fibrillin polymer, the resulting elastic fibres are of low quality. 

Elastic Cells in my Blood vessels

The elastic fibres, resulting from fibrillin proteins, are present in tissues that can expand and contract in order to uphold their structures when under pressure. Examples of these tissues are blood vessels (Figure 3), skin and lungs [3]. In Marfan patients, cardiovascular problems arise due to the dysfunctional fibrillin. The blood vessels do not maintain their structure and become enlarged and weak, this can lead to the previously mentioned problems:

• Valve prolapse
• Aortic insufficiency
• Dilatation of aortic root
• Aortic dissection

Recap

So why do cardiovascular problems happen in Marfan patients?

• Gene defect in the Fibrillin-1 Gene
• Less strong Elastic Fibres in the connective tissue such as  

→ Of important cardiovascular structures:

• Aorta
• Aortic valves

→ Of structures with high presence of connective tissue, this leads to the physically visible symptoms in Marfan patients