Fibrillin and its significance

[PathFinder]

Hi friends,

I haven't posted for long time, since I go to the university and I am very busy, making some prjects for Mercedes.

Many of you know, that the Fibrillin-1 is the major factor in the development of the bicuspid valve disease. Its mutation or deficiency (not clear yet for me) cause the stiffnes and fragility of the great vessels (aorta and pulmonary artery).

The point is, how the fibrillin-1 expression will affect the myocardial function, as it makes the heart muscle stiffer and affects the contractility and relaxations of it. Whether there is such effect? If this effect exist, then why many BAV don't have any heart issues til their late 80's and 90's, keeping in mind, that evidenced all BAV's have the same amount of Fibrillin-1 (independently of age, valve function and aortic diameter)?

These are very interesting questions I think, and I will be very happy to see your opinions about.

Ivo

 

[Susan BAV]

Mutations? Or deficiencies?

Mutations? Or deficiencies?

I'm sorry that I know nothing about Fibrillin-1.

I do have somewhat of a suspicion about one possible cause of development of bicuspid valves though. Theories may be right or wrong, of course, but some time ago I began a thread inquiry about parental smoking, at the time those later diagnosed with BAV were conceived and/or were developing in the womb, and I was really surprised at the enormous percentage of those replying who had parents who smoked. As I recall, there were a very few who replied otherwise and some of those replies were unsure.

Since there are evidently degrees of the bicuspid disorder and related complications, perhaps the toxins can exacerbate an already unhealthy tendency of a particular gene.

Perhaps.

If so, could there be a connection to Fibrillin-1?

 

[francie12]

I believe that there is a mutation in the gene, either inherited or spontaneous, that causes a deficiency in fibrillin-1. The interesting thing is that a large pecentage of BAV owners do not have any trouble with their aortas. I'm wondering if in their cases they had just enough fibrillin-1 to get by...or maybe the mutated gene does not always express itself as a lack of fibrillin-1 and weak tissue in the aorta. Hope a genetics expert will come along here to enlighten us! (I just read that with a BAV there can also be a lack of fibrillin-1 in the pulmonary artery, which explains why my son has that one dilated as well.)

 

[Lionheart]

Ivo,

Wow, you just taught me something! I did a quick search on Google and found a bunch of stuff. You might want to try a Google Scholars search if you want published papers about the topic.

http://scholar.google.com/
For a wealth of published papers from Google Scholar try:
"fibrillin-1" myocardial function
Refine your search terms and you should find a start to your questions.
Good luck,
John

 

[netmiff]

I have (sorry had) bicuspid aortic, and my parents have never (and I mean never) smoked. However, first 5 years of my life, I lived with grandfather, (and my parents, too, dad was in merchant navy and away for long periods of time) and as far as I know, he smoked a pipe, not sure about when I was young, though.