Gene Identified for Short Telomeres in association with Aplastic Anemia

[curlygirl]

http://www.eurekalert.org/pub_releas...-gmd092314.php

Gene mutation discovered in blood disorder
CHOP expert, collaborators identify mutation in aplastic anemia that shortens telomeres on ends of chromosomes

[KMac]

Thanks for posting that Curlygirl, it sure is interesting.

I wonder if they think this telomere-related mutation is the cause only in cases of aplastic anemia that are diagnosed as genetic/inherited (as opposed to acquired). Or if alternately, with this discovery, they now think that many cases previously diagnosed as idiopathic/acquired actually have this telomere-related mutation as the root cause?

[triumphe64]

Dr. Maciejewski told me last week that all of his bone marrow failure patients will be checked against all genetic defects known to cause these illnesses.

[Marlene]

Very interesting. I don't think they went back to check John's telomere lengths once they understood the role they play in this disease. Finding the gene could be very helpful in determining the course of treatment I would imagine.

There have been a few with VSAA and SAA who failed AGT and were later found to have shortened telomeres.

I'm sure there are many unanswered questions surrounding this. Do those with the gene mutation all end up with blood disorders or does it need to be activated by some environmental trigger before it causes disease.

It would be good if they could go back and check everyone who has been diagnosed prior to this discovery.

[edithr]

Oh, I thought telomere testing was standard, is that not the case? They tested my sons in 2011. At that time a lab Canada was the only place that tested them, I had to pay out of pocket for the test and then get reimbursed (out of network) from my insurance.

I have a Google alert set for any news on telomeres, I haven't seen this article yet so thanks for the heads up. I have my alert set for weekly notices though, so hopefully the alert works in the next few days.

[Marlene]

At the time John was diagnosed, they did not have the test. A few year later, they could test for shortened telomeres. I don't know if it's standard procedure to test everyone's telomeres now but sounds like it should be.

Edithr, what were your son's result?

[tom30]

Hi, I have not asked for this test and I'm hesitant to throw it into the mix of tests that little can be done about. My hematologist doctor is not a fan of some tests I asked about MTFR and he dismissed it out of hand saying it wouldn't mean anything and lots of people have that defect with no problems. But my GP will test me for anything I ask for. But I generally go with the advise of the hematologist. I think I would look at it differently if my numbers were heading the wrong way. Anyway Dean Ornish has done some work on Lifestyle changes that lengthen telomeres. The diet he recommended is pretty much vegan and when I tried it my overall blood counts dropped so I added in meat. I do not think his study isolated the low fat component of the diet as a reason for success, I seem to do better on a paleo/organic/minimal processed diet the organic and minimal processing is also part of the ornish diet.
http://ornishspectrum.com/proven-program/the-research/

[Chirley]

I'm positive for one of then MTHFR mutations (homozygous) it hasn't made any difference to me, as far as I know, as long as it's not connected to copper pathways as well somehow.

[curlygirl]

My son's telomeres were tested prior to treatment and they came out normal for his age group. Which is another reason why I think the cause of the Aplastic Anemia isn't the same for each case.

I actually asked at one of the AAMDS.org regional meetings if getting ATG would lengthen your telomeres if you had short ones and the Dr. from NIH that was briefing, Dr. Townsley, said that ATG is such a harsh treatment on your body that they would actually expect your telomeres to shorten as a result of it rather than lengthen. I don't know if that has been shown through tests or is an educated hypothesis that they need to test.