Sandbox Reserved 1645: Difference between revisions
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3D model represents these parts of fibrillin-1: <scene name='86/868178/Cbegf9/2'>cb-EGF9</scene>, second hybrid domain and <scene name='86/868178/Cbegf10/1'>cb-EGF10</scene>. | 3D model represents these parts of fibrillin-1: <scene name='86/868178/Cbegf9/2'>cb-EGF9</scene>, second hybrid domain and <scene name='86/868178/Cbegf10/1'>cb-EGF10</scene>. | ||
== Disease == | == Disease == | ||
The Marfan syndrome (MFS) is a genetic disorder due to a mutation of the Fibrillin1 gene. Because Fibrillin1 is found in connective tissues, having this syndrome can cause severe damages to the ocular, skeletal and cardiovascular systems by affecting the organs’ tissues. Indeed, with fragile connective tissues due to bad synthesized microfibrils, the aorta can be deformed which can provoke an internal bleeding, and lead to death. | |||
It exists nearly a 1 000 of different mutations on this gene but the most common one is a substitution of a guanine by a thymine at the 1538 nucleotide of the transcript. This type of mutation leads to a non-synonymous amino acid substitution Cys (cysteine) to Phe (phenylalanine) at the 528 position on the fibrillin1 gene. Because this cysteine is present in the calcium binding domain's polypetide chain the epidermal growth factor-like domain's structure of FBN1 is modified by this mutation. The calcium cation cannot bind properly to the cb-EGF unit and therefore there is no stabilization of cb-EGF interdomain which causes defects in connective tissue. | |||
== Relevance == | == Relevance == | ||
