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)”
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.
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.
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.
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