Immunohistochemical localization of fibrillin
in human ocular tissues.
It has been studied that these patients do not carry a mutation in the Marfan syndrome gene FBN1 encoding fibrillin
1, but instead a defect of microfibrils which are important components of the extracellular matrix associated with fibrillin
.12 This has been speculated to be associated with the dural ectasias seen in SIH patients and is thought to relate to alterations in the elastin component of the dura resulting in the dilation of the dural sac due to CSF pulsation.13 Some patients have also shown to have a personal or family history of early age spontaneous retinal detachment which suggests the presence of a connective tissue disorder affecting both, the dura and the retina.
The disorder results from molecular defects in the fibrillin
genes, which are responsible for the impaired structural integrity of the skeletal, ocular, and cardiovascular system.
Underlying this inherited disease is a disorder of the fibrillin
gene which results in defective fibrin and collagen production.
Similar to Marfan syndrome, it is caused by a defect in the gene encoding fibrillin
, a large glycoprotein.
This vitamin is required for the formation of collagen fibers and other connective tissue components such as elastin, fibronectin, proteoglycans, the bone matrix and elastin-associated fibrillin
This genetic disorder involves mutations of the fibrillin
gene that lead to a diverse presentation of abnormalities in multiple organ systems.
Among the topics are cadherins, adherens junctions and desmosomes, integrins and focal contacts, receptor tyrosine phosphatases, Notch and Slit-Robo signaling, adhesive binding to collagen and fibrillin
, and complex adhesive mechanisms involved in leukocyte migration and malaria.
The BBC's Horizon highlighted a study which showed the original cream, No7 Protect & Perfect Beauty Serum, stimulated the production of fibrillin
, a protein that boosts skin's elasticity.
Inhibition of fibrillin
1 expression using U1 snRNA as a vehicle for the presentation of anti-sense targeting sequence.
The basic defect has recently been identified as a mutation in the fibrillin
gene on chromosome 15.