[10.] Ramirez F, Sakai LY (2010) Biogenesis and function of fibrillin
Altered hemodynamics due to aortic stenosis and regurgitation and also defects in aortic media like elastin fragmentation, decreased fibrillin
, matrix disruption, loss of smooth muscle and increase in collagen have been thought to be the cause.
is an important part of connective tissue, the diseases of which can affect several parts of the body; such as skin, muscles, skeleton, pulmonary system, blood vessels in varying degrees (3, 7).
This gene contains 66 exons, is located on chromosome 15q21.1 and encodes fibrillin
, an important protein of the extracellular matrix, that contributes to the final structure of a microfibril (1, 2).
During photoaging there is also an accumulation of degenerated elastic fibers combined with other proteins, such as glycosaminoglycans, fibrillin
, and lysozyme, which are deposited in the upper dermis triggering elastosis .
Kjaer, "Basic components of connective tissues and extracellular matrix: elastin, fibrillin
, fibulins, fibrinogen, fibronectin, laminin, tenascins and thrombospondins," Advances in Experimental Medicine and Biology, vol.
The accumulation of fibronectin in the extracellular space also modulates the secretion of other repairing components such as collagen type I and type III, tenascin, laminin, and fibrillin
A recent study found that miR29 acts as an antifibrotic factor by accelerating the expression of multiple extracellular matrix genes including elastin , fibrillin
1 (Fbn1), collagen type I, [alpha] 1 and 2 (Col1[alpha]1, Col1[alpha]2), collagen type III, [alpha]1 (Col3[alpha]1), and fibronectin (FBN) [62,63].
The pathogenesis of striae is unknown but probably relates to changes in the components of extracellular matrix, including fibrillin
, elastin and collagen.
[5,6] Molecular analysis of Marfan-like conditions has unveiled that patients with congenital contractural arachnodactyly (CCA or Beals syndrome) carry germline mutations of the fibrillin
2 (FBN2) gene on chromosome 5q23-q31.
Investigated miRNA CRT effect Epigenetic effect miR-26b-5p Significant increase IK1 and [Ca.sup.2+] current miR-29a-3p Significant increase Collagen, fibrillin
, and elastin miR-30e-5p Significant increase Angiotensin II, cystathionine-[gamma] -lyase (CyL), and hydrogen sulfide (HS) miR-92a-3p Significant increase SREBP2 and angiotensin II miR-145-5p Significant increase PI3 Kinase/Akt/p53 Investigated miRNA Potential role in heart Bibliography remodelling miR-26b-5p Membrane channel ionic [25-27] currents miR-29a-3p Cardiac fibrosis [25, 26, 28] miR-30e-5p Cardiac angiogenesis [25, 26, 29] and cardiac apoptosis miR-92a-3p Cardiac angiogenesis [25, 26, 30] miR-145-5p Cardiac angiogenesis [25, 26, 31]
Kuntz, "Subfamily organization and phylogenetic origin of genes encoding plastid lipid-associated proteins of the fibrillin
type," Journal of Genome Science and Technology, vol.