What does fibrillin-1 do in the body?

3.10 Fibrillin-1 FBN-1 is a cysteine-rich 350 kDa glycoprotein involved in the synthesis of microfibril and elastic fibers of the connective tissue. Elastic fibers contribute to artery wall elasticity and the disruption of these fibers leads to vessel disorders.

What mutation causes Marfan?

Mutations in the FBN1 gene cause Marfan syndrome. The FBN1 gene provides instructions for making a protein called fibrillin-1. Fibrillin-1 attaches (binds) to other fibrillin-1 proteins and other molecules to form threadlike filaments called microfibrils.

How is Marfan inherited?

Marfan syndrome is hereditary, which means it can be passed to a child from a parent who’s affected. In around three-quarters (75%) of cases, Marfan syndrome is inherited from 1 parent. The syndrome is autosomal dominant, which means a child can inherit it even if only 1 parent has the syndrome.

What happens to fibrillin in Marfan?

FBN1 gene mutations that cause Marfan syndrome reduce the amount of fibrillin-1 produced by the cell, alter the structure or stability of fibrillin-1, or impair the transport of fibrillin-1 out of the cell. These mutations lead to a severe reduction in the amount of fibrillin-1 available to form microfibrils.

What does it mean if human transforming growth factor beta 1 is high?

What does it mean if your TGF-b1 result is too high? – TGF B-1 is often chronically over-expressed in disease states, including cancer, fibrosis and inflammation. – TGF B-1 is moderately to extremely high in Chronic Inflammatory Response Syndrome due to water-damaged buildings (CIRS).

Is the FBN1 gene mutation associated with Marfan syndrome?

FBN1 gene mutation is associated with Marfan syndrome. Results showed two novel mutations in exon 12 and 50 of FBN1 identified in two Chinese family members with Marfan syndrome (MFS) which may be responsible for cardiovascular manifestations. The results expand the FBN1 mutation spectrum and enrich our knowledge of genotype-phenotype correlations.

How many exons are there in the fibrillin gene?

The fibrillin gene is relatively large, and the coding sequence is divided into 65 exons ( Corson et al., 1993; Pereira et al., 1993 ). Corson et al. (1993) described 3 alternatively spliced exons at the 5-prime end, which they termed exon B, exon A, and exon C. A CpG island was identified that spans the first 2 alternatively spliced exons.

What is the molecular weight of fibrillin?

The molecular weight of fibrillin is about 350,000 Da. Sakai et al. (1991) pointed out that fibrillin contains approximately 14% cysteine, of which one-third appears to be in the free reactive sulfhydryl form. Maslen et al. (1991) isolated cDNA clones for the fibrillin gene.

What does the FBN1 gene do?

Collapse Section The FBN1 gene provides instructions for making a large protein called fibrillin-1. This protein is transported out of cells into the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells.