March 10, 2019 at 6:25 am
Next week, Professor Jane Maguire will do a presentation for Strokefocus.
Topic: Genetics and Stroke Recovery.
Time, 3/14 4 pm PST (3/15 10 AM Sydney Time)
Some of our members submitted these questions:1) From your experience (recently genetics and recovery), What is recovery most dependent upon?2) Does recovery ever stop? When, if it does?3) Australian researchers seem to be ahead of US both research and practice? What can American researchers do to catch up?Simply reply by email to add your questions.
March 10, 2019 at 10:15 am
If you have one stroke because of AVM, are you likely to have additional strokes?
Name the genetic reasons for having a stroke. Name the general types of medications that are used in these instances.
How many strokes (percentage) are caused by genetic factors?
AHA says that about 80% of strokes are preventable. What percent of strokes caused by genetic factors are preventable?
March 11, 2019 at 4:30 am
I got my stroke from Protein S deficiency.
Apparently, it is a genetic disorder. Could you please shed some light?
And I don’t believe that strokes are preventable 80% of the time. If the number is true, have we gotten so lethargic about our health?
- This reply was modified 10 months, 1 week ago by Joyce Hoffman.
March 13, 2019 at 2:56 am
Great questions! Thank you for posting. The answers to these are highly complex and are not conducive to unravel in a short blog forum, but I will do my best without getting too lengthy and detailed.
In addition, before I answer these, I do need to clarify that my expertise is not in AVM- Arteriovenous Malformations- but in ischaemic stroke genetics. However, I can address some of your questions by wearing that lens. I will assume you are asking about cerebral AVM because I am sure you are aware that AVM’s can occur in other systems in the body such as pulmonary, hepatic and renal.
Question regarding AVM:
Firstly, for the benefit of other bloggers, the mechanism behind an AVM induced stroke results in a type of stroke known as a bleeding type, either a subarachnoid or an intracerebral haemorrhage. The tangled malformation creates a conduit between the arterial and venous system and pressure of arterial oxygenated blood returning to the venous system is greater than the vessel ability to manage. The venous bed is also not well developed, hence it ruptures, and there is subsequent damage to the area of brain that has been compromised.
Most AVMs are sporadic and not hereditary, not familial, however 5% of AVMs may be due to autosomal dominant inheritance of a genetic mutation, most commonly hereditary hemorrhagic telangiectasia (HHT) or the capillary malformation-AVM syndrome. The evidence I reviewed seems to suggest that there is a strong inflammatory and angiogenic process involved —including endoglin and ALK-1 signaling pathways—contribute to AVM pathogenesis and clinical course. Genes that have been associated include ACVRL1 gene; ENG gene; HHT; SMAD4 gene; and interestingly, cerebral AVMs are approximately ten times more common in HHT1/ENG carriers (~20%) than HHT2/ALK-1 (~2%) patients .Compared to sporadic lesions, presence of an ENG or ALK-1 mutation results in approximately a 1,000 and 100 fold increased risk, respectively, of developing a brain AVM. So there is a greatly elevated risk of brain AVM development in some of the Mendelian disorders.
March 13, 2019 at 3:03 am
Question regarding AVM recurrence:
This will depend on whether the AVM was successfully surgically removed and if the patient does not have any more evidence of an AVM. If the surgery is successful- this can be 100% recovery, however the surgery itself carries risks and there may already be areas of damage from the initial rupture. These areas of damage may or may not recover fully- depends on where the injury is, timing, and therapy options. This is when the patient has stroke event symptoms. So there are quite a few variables to consider. I could not find any data on AVM recurrence rates to share with you, but someone else may know this?
March 13, 2019 at 3:10 am
We recently published a list of genetic factors associated with stroke risk in MEGASTROKE, the largest international stroke genetics project ever undertaken, a cross-cultural genetic analysis of more than half a million people (67,000 cases: 454,450 controls) investigating stroke risk. The study reports 32 genetic variants, 10 replications and 22 new variants. Replication adds confidence; new variants increase potential target populations, create opportunities for prevention and potential re-purposing of existing drug therapies. MEGASTROKE cumulates 10 years’ of research by stroke genetics researchers across multiple projects, under the umbrella of the International Stroke Genetics Consortium and including the Australian Stroke Genetics Collaborative. Results published in Nature Genetics, and if you want to know more this paper is available at this free link. https://www.ncbi.nlm.nih.gov/pubmed/29531354
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