BAV Gene Found

[OldManEmu]

The gene (NOTCH1) that causes BAV appears to have been identified.
A media release on the Southwestern Medical Centre contains
the details of the story. I have included a link below.

http://www8.utsouthwestern.edu/utsw/cda/dept37389/files/232826.html

I have also included a link on this gene from the NCBI
This had previously identified that this gene was involved in cell
developmental processes.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4851

I will be interested to read others comments on this.

 

[Marguerite53]

incredibly interesting....

incredibly interesting....

Very intriguing. Thank you for the link. I am tempted to copy the report and send one copy to my cardio and one to my insurance company.......I just shelled out a great amount of money for a screening echo for my daughter who is about to enter college level sports. In good conscience, I couldn't let her go without a look. Still waiting for results on her, but did see a clear and (for me) most beautiful mercedes benz symbol pop up on the screen for awhile. (perhaps I can coax a reimbursement with the use of this article) Interestingly enough, somewhere buried in a box is her amniotic fluid chromosome reading.......perhaps someone should look at that as well.

Very, very interesting. I know there are many here who have wondered about an inheritance factor. Thank you very much for sharing that.

Marguerite

 

[catwoman]

OldManEmu:

Thanks for posting the link.

Some great research has come out of the University of Texas Southwestern Medical School at Dallas. I believe some of the researchers have either been nominated for or have received Nobels.

A fellow cat breeder works there, in accounting in the cardiology area, and has been extremely high on UTSWMS. She used to work in the office of a cardiology practice; when one of the cardios there went to teach @ UTSWMS, my friend was recruited to go with him.

Makes me glad to be a Texan, even though I'm not a University of Texas graduate!

 

[PJmomrunner]

I mentioned this a specialist in human genetics and cardiology I saw today and she said the study was not big enough and alternate causes of disease were not ruled out sufficiently to demonstrate a clear correlation between the mutation and BAV/related disease. Her initial response was to say, "Oh, Deepak got Nature to publish that?" (to a colleague who was in the room) which makes me wonder if other journals (i.e. journals of medicine) have maybe not accepted the same paper? So maybe it's more of a theory at this point?