My husband found an interesting recent article about "Notch 4" being researched and sucessfully used to shrink enlarged blood vessels in mice. The article is very detailed. Please read.
http://courses2.cit.cornell.edu/schafferlab/wp-content/uploads/2012_Science_Trans_Med_Notch4_AVM.pdf
Anyone heard of Notch 4?
It's a gene that they manipulated: http://www.ncbi.nlm.nih.gov/gene/4855
The article suggests that most AVMers have a mutated Notch4 gene.
Did you notice that doxycycline was the agent used to "normalize" the Notch4 gene?
I did see that! I just haven't been able to dig deeper yet to understand it all. I need to have some quietness without 2 children tugging at my shirt tail...maybe after they go to bed. You always amaze me with your snappy fingers! Thanks for digging up more information!
Thank you for posting a very important article! I hope it will help lead doctors to a cure.
Hi Guys, asked the Dr who will be leading the AVM research for our charity in the UK about these articles she replied,
Thank you for the articles. All of these leads are useful and will add to the starting points for AVM gene research once the samples are collected. In general mice models have to be considered carefully, particularly when they are "overexpression" models - ie the researchers try to stimulate only one gene to work harder - as there can be non-specific effects from other genes, and also there can be such a high level of overexpression that various pathways can be overactivated.
They are good clues though, and sometimes they are spot-on
I’m aware that most doctors believe that most AVMs are not hereditary, but from the members of this website, there are far too many instances of multiple AVMs in families to be coincidence. Some are due to HHT and other syndromes, but many are not. At this time, I incline toward the belief that there is a gene or combination of genes responsible for many AVMs.
Hi, Connie, I was reconsidering this article and looking to see if there were other articles about notch4 and its effect on MMPs. This article explains the connection:
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3039832/
Of interest to me was the observation that an overexpression of angiogenesis could lead to varicose veins and preeclampsia, as well as avms. My mother had varicose veins, and I had preeclampsia. Is it farfetched to imagine that my family has a genetic tendency affecting angiogenesis?
This is all very interesting to me. My mother had varicose veins so badly they stripped both legs.Ten years, or so, later she had a stroke but fully recovered. I had preeclampsia with my first child and my second son was 3 weeks early. Weird at the very least.
Interesting....as I also had pre-eclampsia w/ my first child, not the one w/ the avm. Interesting that we share that same history. Seems to me that there must be some correlation.
Here is another article implicating soluble engoglobin in the development of both preeclampsia and brain AVMs: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2773229/
It is a mouse model, not a human study, but intriguing all the same.