Marfan Syndrome

Marfan Syndrome is a genetic disorder that causes defective connective tissue. This can effect the skeleton, heart blood vessels, eyes and lungs. Normally, the interstitial space of body tissue is full of microfibrils.^[1] This is strong rope like structure that provide tissue integrity and common connective tissue.

The main component of microfibrils is a glycoprotein called fibrillin.

Approximately 1 in 5000 individuals is affected by Marfan syndrome. Around 75% of those with the condition inherit it from a parent. However, in some cases, Marfan syndrome occurs in someone with no family history of the disorder, which is referred to as a spontaneous mutation.^[2]

References

↑ Thomson, Jennifer; Singh, Mukti; Eckersley, Alexander; Cain, Stuart A; Sherratt, Michael J; Baldock, Clair (May 2019). "Fibrillin microfibrils and elastic fibre proteins: Functional interactions and extracellular regulation of growth factors". Seminars in Cell & Developmental Biology. 89. doi:10.1016/j.semcdb.2018.07.016.
↑ "Marfan Syndrome". Marfan Foundation. Retrieved 2025-01-08.

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[1] Thomson, Jennifer; Singh, Mukti; Eckersley, Alexander; Cain, Stuart A; Sherratt, Michael J; Baldock, Clair (May 2019). "Fibrillin microfibrils and elastic fibre proteins: Functional interactions and extracellular regulation of growth factors". Seminars in Cell & Developmental Biology. 89. doi:10.1016/j.semcdb.2018.07.016.

[2] "Marfan Syndrome". Marfan Foundation. Retrieved 2025-01-08.

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