FBN1 and Associated Diseases
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Overview of FBN1
In humans, Fibrillin-1 (FBN1) is a protein encoded by the 230-kb FBN1 gene located on chromosome 15. FBN1 is an extracellular matrix glycoprotein and is regarded as a structural component of calcium-binding microfibrils, which provide structural support in the elastic and nonelastic connective tissue of the whole body. The FBN-1 gene is related to a variety of embryonic developmental events. Mutations of FBN1 can result in a series of phenotypic effects, including fetal death and developmental problems.
Fig.1 The structure of FBN1. (Wikipedia)
FBN1 in Disease
FBN1 mutations are associated with a series of diseases such as ovarian cancer, marfan syndrome, and in some cases weill-marchesani syndrome.
- Marfan syndrome
FBN1 is the disease-causing gene for Marfan syndrome (MFS). MFS is a relatively common, dominantly inherited disorder of connective tissue of the cardiovascular, musculoskeletal, and ocular systems with major features of thoracic aortic aneurysm, tall stature, and ectopia lentis. More than one thousand different mutants that occurred in FBN1 are associated with MFS. Missense mutations are most frequently involved in MFS. Some mutants containing small indels or duplication create a premature stop codon of FBN1. Besides, the mutants taking place in special regions of FBN1 can cause opposite effects like short stature.
- Ovarian cancer
FBN1 promotes the tumorigenesis and metastasis of ovarian cancer. Ovarian carcinoma is the main reason causing death in gynecologic cancers because of the high metastasis. FBN1, as the tumor metastatic enhancer marker, can be stimulated by Aur A resulting in cell migration and invasion. Overexpression of Aur A, as the upstream gene of FBN1, predicts poor overall survival and disease-free survival in ovarian cancer tissues. High expression of FBN1 predicts poor overall survival, too. Furthermore, FBN1 can inhibit the metastatic suppressor E-cadherin but stimulate the MMP 2, 9, 13. In a word, FBN1 is useful for ovarian cancer diagnosis and can act as a treatment target.
Creative Biolabs are proficient in every process of gene therapy development. Choosing us can greatly speed up your research for clinical application. We aim to provide full spectrum service for your gene therapy-associated projects. Please feel free to contact us for more about your FBN1 project.
References
- Sakai, L. Y.; et al. FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. Gene. 2016, 591: 279–291.
- Wang, Z.; et al. Fibrillin-1, induced by Aurora-A but inhibited by BRCA2, promotes ovarian cancer metastasis. Oncotarget. 2015, 6: 6670–6683.
