produce lipodystrophy when mutated. The mechanism for adipogenesis requires a downregulation of extracellular genes (hence FBN-1) and the upregulation of adipo-related proteins(12). This could suggest that the FBN-1 gene proteins are either overexpressed or under-expressed, causing the process of adipogenesis to be altered from its normal function. FBN-1 also contains transforming growth factor-β. TGF- β is responsible for cell growth, differentiation, and development of many cellular processes and functions. TGF-β is even responsible for promoting the development of some specific types of TH cells (such as TH-17 cells) which seem to be linked to an autoimmune response(13).
Two genes are important to recognize. FBN1 and FBN2. When mutated, both genes form characteristics at times nearly…show more content… The FBN2 gene mutation is responsible for CCA (congenital contractual arachnodactyly). Arachnodactyly is a symptom of several heritable disorders of connective tissue (HDCTs)(14). Marfan syndrome just happens to be one of the most common and well known genetic disorders causing arachnodactyly. Marfan syndrome as well as CCA are mostly caused by an autosomal dominant mutation(15), with MFS being autosomal dominant in the FBN-1 gene approximately 90% of the time(16). Both have of these mutations can have very similar symptoms such as arachnodactyly, scoliosis, and pectus carinatum(15). This can prove to make a diagnosis simply based on physical characteristics a problem. More than likely genetic testing would need to be done to specifically determine which
