New research sheds light on the role of genetics in POTS:
Epigenetic Modification of the Norepinephrine Transporter Gene in Postural Tachycardia Syndrome
Previously, a mutation in the norepinephrine transporter gene (SLC6A2) this gene has been implicated in POTS in one family in the U.S., but despite testing thousands of other patients, the same mutation was not found in other POTS patients.
Recently, researchers in Australia decided to look at the amount of norepineprhine transporter (NET) in POTS patients, and found that, even though the SLC6A2 gene mutation was not present, POTS patients tended to have a deficit of NET compared to healthy controls. NET is a protein that controls the re-uptake of norepineprhine form extracelluar spaces (spaces outside of cells). Seeking to understand why POTS patients would lower amounts of NET, researchers re-examined the expression of the SLC6A2 gene in POTS patients and healthy controls. They discovered that, while the SLC6A2 gene itself was normal in POTS patients (other than the one family previously mentioned), the POTS patients with reduced NET levels had an increase in chromatin modifications. Chromatin is the combination of DNA and proteins that allow DNA strands to wind up into tiny coils in the nucleus of a cell. Each human cell contains 1.8 meters of DNA, but when chromatin does it's job, that 1.8 meters of DNA gets wound up into a tiny little package that is less than .01mm in size, and fits neatly inside the nucleus of the cell.
Modifications in chromatin are known to cause changes in the way a gene is expressed. There is an entire field of genetic research dedicated to understanding changes in gene expression caused by mechanisms other than changes to the DNA itself. This is called epigentics.
This is really exciting research. If this study can be applied to the larger POTS population, in theory, it could lead to the development of a blood test to diagnose POTS some day, and perhaps even therapies aimed at correcting the abnormal chromatin structure.
Do you know any organizations that I can donate to to help fund research like this? Thanks for keeping us informed!
ReplyDeleteDear lauravee,
DeleteYes, there is a brand new non-profit organization called Dysautonomia International that was formed specifically to fund dysautonomia research just like this! I am part of that organization. We are VERY excited about this research because we think it can open the door for other similar work, and because it could someday lead to more targeted therapies to help POTS patients. Our website is still under construction, but we will have an online donation system up soon, and we are already getting mailed check donations. 100% of the donations will go to research, since right now all of our work is being handled by volunteers and our overhead costs have been covered by our board members and companies that have donated their professional resources.
I would love to tell you more about the new organization and answer any questions you may have. Send me a message to postgrrl@gmail.com if you want details.
Sincerely,
POTSgrrl
Wow, this is really cool for me personally since I know that my POTS symptoms are caused from really high levels of Norepinephrine. I have always wondered about the NET thing since I read about it in some of the research but knew that the mutation was very, very rare. Now this is something to look forward to.
ReplyDeleteWhat's medications are u on. I'm hyper too and reacting to everything :)
DeleteThank you for this Lauren! I sure hope someone picks up on it and finds a cure one of these days... that's fantastic that they found this.
ReplyDeleteExcellent post!
ReplyDeleteVery exciting!
ReplyDeleteExcellent post and it seems you have a very keen mind and understand the study and this epigenetic mechanism.
ReplyDeleteI was one of the patients involved in the study I believe. Thanks