New drug discovered for correcting Postural Orthostatic Tachycardia Syndrome (POTS)
An ex vivo tested therapy led by the research team of Professor Sam El-Osta from Monash University has been successful in rectifying the incorrect body mechanism in POTS.
Researchers have been successful in identifying a drug that switches on the genes, otherwise always silent or off, that protect against Postural Orthostatic Tachycardia Syndrome (POTS).
POTS is often seen where a person is disoriented for some time when standing up from a lying-down position. This happens due to a reduced volume of blood reaching the heart when standing up. The medical terminology for this is called orthostatic intolerance and it is one of the primary symptoms of POTS. POTS is one syndrome in a group of disorders that has such symptoms. Nearly 1/3rd of POTS patients also observe fainting to be another prominent symptom.
The research team from Monash University, led by Professor Sam El-Osta, states that norepinephrine transporter (NET), the gene implicated in POTS, has been known for many decades. However, previous studies had failed to detect the genetic mutation accountable for the symptoms. This latest research successfully discovered that the enzyme due to which the gene switches off is EZH2.
Professor Sam El-Osta recalls that the team had predicted that this epigenetic condition’s inhibition could reactivate the NET gene function. Moreover, they used GSK-126, a pharmacological drug, which specifically inhibits EZH2 activity producing substantially noticeable outcomes. He goes on to say that “this is the first description of NET reactivation using a drug. The distinctive factor of this is that enables us to precisely target the enzyme to helping in reviving the gene function.”
POTS mainly affects people in the age group of 18 to 50 years, 80% of whom are women. As of now, there does not exist a pertinent pharmacological treatment for POTS. On this, Professor Osta says that clinical trials need to be conducted to reach the aim of such specific treatment. But this new drug provides hope as it can lead to more efficient management of POTS.
Ex vivo studies were conducted by the research team where it isolated the blood cells received from POTS-affected patients. These patients had not responded to current treatments and cells donated by healthy adults. Professor Osta said that this group sample was relatively limited in number and that their goal is to see the study's work be expanded in Australia and globally, as this will help validate the results.