Keeping It Together with Marfan Syndrome – A Connective Tissue Disease

2010-03-16 | |
Last updated: 2010-03-16

How the body is held together and how it holds its shape are not ideas that most of us will ponder for any length of time. However, as a complicated construction project, our bodies have many parts that must individually work properly in order for our body structure to operate in a healthy manner. When our bodies are built with defective genes, many different structural problems of varying severity can occur. One such structural problem occurring from genetic abnormalities is Marfan Syndrome.

What Is Marfan Syndrome?

Marfan Syndrome is one of the most common diseases of the connective tissues that hold our cells together. The elastic fibrous material of connective tissues is made of protein and its operation normally ensures that our cells and organs are held in place.

In those with Marfan Syndrome, these connective tissues are not as effective as they should be to withstand the typical physical stresses within the body. At the same time, the ineffectiveness of the connective tissue prevents them from retaining as much of a specific chemical that promotes cell growth and cell reproduction.

How Many People Are Affected By Marfan Syndrome?

While Marfan Syndrome is one of the most common connective tissue diseases, such diseases are rare and this condition only affects 2 to 3 in 10000 people. At present the medical community understand the condition to caused by more than 1000 different mutations of a single gene. Unfortunately, less than 12% of the mutations have been observed in more than one family so genetic research, diagnosis and infant screening are made more complicated. At the same time 30% of all cases occur spontaneously in children whose parents do not carry the gene.

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Category: Disease Information, General Health, Symptom Information

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