Science & Medicine

News Briefs….October 15, 2012

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Bingo!  23andMe hits paydirt!

Way ahead of schedule,  based on explorations of its still growing MPN genetic database, Dr. David Hinds and the research team at 23andme reported on a new association between the classic MPNs — MF, PV, and ET– and a genetic anomaly.     

Their finding was announced in the typically understated and opaque terms of scientific abstracts:  “We also detect a novel association between MPNs — ET, PV and PMV — and rs285367 (…) in telomerase reverse transcriptase (TERT)”

At first blush it doesn’t seem like much cause for celebration, but unwinding it a bit reveals the application-rich implications of the discovery.

Within  rs285367,  a SNP, (a small section of DNA) on Chromosome 5, a variant of a TERT gene has been found to be significantly associated with classical MPNs…as well as other cancers!  TERT catalyzes the enzyme telomerase that extends strands of telomere in at the end of DNA chains.

But why do we care about telomeres anyhow? Luckily this is a News Brief so we can get away with the cartoon version of things.  Telomeres cap the ends of chromosomes, a kind of buffer zone.  The idea is to protect the chromosome during reproduction so the DNA material doesn’t get fused or rearranged in the process of reproduction.  Without teleomeres (often compared to shoelace tips)  cells would lose the ends of the chromosomes and DNA information  during cell division.

Each coupling normally reduces the number of telomeres at the end of a DNA strand, continually shortening the telomere string until it reaches a critical level.  At that point the cell is signaled to self-destruct (apoptosis). When cells evade programmed destruction, they become, in a sense, immortal, and  instrumental in creating  most cancers
      It’s premature to equate this SNP finding with discovery of the JAK2v617F, mutation but it does seem to open a significant new pathway to exploration of genetic causes of MPNs.   And the fact that it was done so quickly, even before the 23andMe MPN database had  reached its full power, is promising.

Dr. Hinds and his team — which includes volunteer consultants Dr. Ruben Mesa (Mayo Clinic), Dr. Jason Gotlib and Dr. James Zehnder (Stanford)–  will present their full findings in a paper at the American Society of  Human Genetics meeting in San Francisco later this Fall.

The grandmother of all MPN conferences

If you plan to be anywhere near Phoenix February 9-10,2013 you might well consider putting the The MPN Education Foundation/Mayo Clinic Arizona Patient Conference on your calendar.
This grandmother of all MPN conferences – the direct  descendent of the first such gathering organized by the iconic Dr. Harriet Gilbert and Joyce Niblack in 2005 – is serving up the usual helping of expert MPN presentations by top hematologists…workshops…Q&A…patient/doctor networking.,and their famous dinner.
The biannual event year is moving to expanded quarters at Mayo’s Phoenix facility this year. The tab:  $200… and that includes a couple of meals and all the information you can gather during the two day event.  For more info: 

Feeling tired?….We’re starting to work on our Fatigue Issue.  Here’s your chance to send your stories to share your experience of this most common MPN symptom and your strategies to overcome it.  Just e-mail us —–  with your story and we’ll be in touch

  Take me back to the Contents ©, 2012. Unauthorized use and/or duplication of this material without express and written permission is strictly prohibited. Excerpts and links may be used, provided that full and clear credit is given to with appropriate and specific direction to the original content.

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