ramakentesh Posted March 7, 2006 Report Share Posted March 7, 2006 Here is another post to update on the progress towards publishing of a study of POTS patients conducted by the Baker Institute in Melbourne at the Alfred Hospital.They are attempting to get a this work published in the New England Journal of Medicine, but if they are unable to do this, will try another journal.As quick background, they found that all POTS patients tested had hypermethylated gene promoters in their NET gene - the NET gene controls how much norepinephrine is taken out of the blood stream by the NET transporter protein. When it is hypermethylated it is turned off. If this happens their hypothesis is that norepinephrine reuptake is reduced or non-existent and symptoms of sympathetic overactivity occur.They tested this first by giving normal patients a substance that effected their norepinephrine reuptake and created symptoms in these individuals identical to POTS.They then test their hypothesis they examined the reuptake of norepinephrine in the heart of normal and POTS patients and found that it was greatly reduced under MIBG scan in POTS patients - which could proide a new diagnostic test.The latest update is that they have taken a vein biospy in POTS patients and normal peopel and compared the amount of Norepinephrine transporter protein found. THis was important to see whether impaired reuptake occured because of resistance to the transporter protein or because of diminished protein which would prove the hypermethylation theory. They found that in POTS patients there was nearly no Transporter protein - again demonstrating that POTS was caused in all patients tested by hypermethylation of the NET gene promoter.This will have huge implications in future treatment protocols and the understanding of teh disorder.They have also found that the levels of methylation wax and wane as our symptoms waxed and wained - but they dont know why Quote Link to comment Share on other sites More sharing options...
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