Marfan+Syndrome+Gene+of+Interest

FBN1 Gene The FBN1 gene is responsible for the production of fibrillin-1 proteins. Once the protein is made and assembled in cells, it is exported outside the cells to the area called the extracellular matrix. Multiple fibrillin proteins bind together to make up larger, threadlike molecules called microfibrils. The microfibrils then band together to make long, flexible strands, allowing for the movement and stretching of all connective tissue, such as skin, tendons, blood vessels, and other organs. In addition to providing flexibility, microfibrils attach to stronger tissue such as bones and supportive tissues such as muscles. It is because of these microfibrils that the body is able to bend without harm, as well as support its own weight (FBN1, 2015).



FBN1 Gene Image taken from Google

Microfibrils house a protein called transforming growth factor beta (TGF-β) that is responsible for cellular control, division (proliferation), maturation into specific functioning cells (differentiation), movement (motility), and programmed cell death (apoptosis). These fibrillin fibers are in charge of regulating this growth factor rigorously. When TGF-β is stored in microfibrils, it is inactivated, but when it is released, the growth factors become activated. With such low numbers of essential proteins, TGF-β becomes more active than in a non-affected individual. As seen from the picture above, the gene contains many domains for binding the growth factor. If normal, the growth factors are bound and growth occurs at a proportional pace. However, the mutation to the FBN1 gene leads to less binding domains for the growth factors, and this leads to excess factors in the extracellular matrix. The influx of activated growth factors lead to less flexible connective tissue, but the overgrowth of limbs, digits, and other structural features. In addition, due to the combined effects of decreased flexibility and an excess of growth, the organs and tissues of the body are rendered extremely unstable (FBN1, 2015).

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