The gene SLC6A2 relationship to POTS

bertiedog

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I was doing a bit of research into hyperadrenergenic POTS having looked at @Cort's excellent write up of the Dysautonomia Conference last July and I think it was there that I found the above gene was linked to this disorder which I definitely have.

What I found was that I was homozygous for 12 SNPs for SLC6A2 and I wondered how many others here have found something similar when suffering with the difficulties that POTS creates.

Thankfully I am helped by 10 mg Propananol on getting up and sometimes I need another dose in the afternoon but I find it doesn't work too well when standing in hot environments like shops or during the summer. Often than I also need a small dose of Fludrocortisone for a few days. I definitely get a very stressed feeling in my brain when I do a bit of voluntary work once a week but after a dose of the betablocker I feel much better.

I also always feel better after the Fludro but cannot keep taking it otherwise I get too high blood pressure and killer migraines.

I would be interested if other POTS people had looked at their genetics too.

Pam
 
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Belbyr

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What test did you run for this? Can you link Cort's article, I might have missed it.
 

bertiedog

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What test did you run for this? Can you link Cort's article, I might have missed it.
I cannot find the exact article at the moment but I am sure I read it in relationship to Cort writing about the Dysautonomia Conference that he attended this summer which I think was in 3 parts. It lead me to searching for this gene on livewello and the following is written regarding it -

"This information is provided and maintained by the National Center for Biotechnology Information (NCBI), Genetic Home Reference and MedlinePlus

ABOUT SLC6A2:

Official name:
The official name of this gene is "solute carrier family 6 (neurotransmitter transporter), member 2." SLC6A2 is the gene's official symbol. The SLC6A2 gene is also known by other names, listed below. Read more about gene names and symbols on the About page.

Normal function:
From NCBI Gene : This gene encodes a member of the sodium:neurotransmitter symporter family. This member is a multi-pass membrane protein, which is responsible for reuptake of norepinephrine into presynaptic nerve terminals and is a regulator of norepinephrine homeostasis. Mutations in this gene cause orthostatic intolerance, a syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010] From UniProt : Amine transporter. Terminates the action of noradrenaline by its high affinity sodium-dependent reuptake into presynaptic terminals.

Associated Health Conditions:
ORTHOSTATIC INTOLERANCE, SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, NORADRENALINE), MEMBER 2

Your autonomic nervous system is the part of your nervous system that controls involuntary actions, such as the beating of your heart and the widening or narrowing of your blood vessels. When something goes wrong in this system, it can cause serious problems, including

  • Blood pressure problems
  • Heart problems
  • Trouble with breathing and swallowing
  • Erectile dysfunction in men
Autonomic nervous system disorders can occur alone or as the result of another disease, such as Parkinson's disease, alcoholism and diabetes. Problems can affect either part of the system, as in complex regional pain syndromes, or all of the system. Some types are temporary, but many worsen over time. When they affect your breathing or heart function, these disorders can be life-threatening.

Some autonomic nervous system disorders get better when an underlying disease is treated. Often, however, there is no cure. In that case, the goal of treatment is to improve symptoms.

NIH: National Institute of Neurological Disorders and Stroke

Occupational health problems occur at work or because of the kind of work you do. These problems can include
  • Cuts, broken bones, sprains, and strains
  • Loss of limbs
  • Repetitive motion disorders
  • Hearing problems caused by exposure to noise
  • Vision problems
  • Illness caused by breathing, touching, or swallowing unsafe substances
  • Illness caused by exposure to radiation
  • Exposure to germs in health care settings
Good job safety and prevention practices can reduce your risk of these problems. Try to stay fit, reduce stress, set up your work area properly, and use the right equipment and gear.

Fainting is a temporary loss of consciousness. If you're about to faint, you'll feel dizzy, lightheaded, or nauseous. Your field of vision may "white out" or "black out." Your skin may be cold and clammy. You lose muscle control at the same time, and may fall down.

Fainting usually happens when your blood pressure drops suddenly, causing a decrease in blood flow to your brain. It is more common in older people. Some causes of fainting include
  • Heat or dehydration
  • Emotional distress
  • Standing up too quickly
  • Certain medicines
  • Drop in blood sugar
  • Heart problems
When someone faints, make sure that the airway is clear and check for breathing. The person should stay lying down for 10-15 minutes. Most people recover completely. Fainting is usually nothing to worry about, but it can sometimes be a sign of a serious problem. If you faint, it's important to see your health care provider and find out why it happened.

You've probably heard that high blood pressure is a problem. Sometimes blood pressure that is too low can also cause problems.

Blood pressure is the force of your blood pushing against the walls of your arteries. Each time your heart beats, it pumps out blood into the arteries. Your blood pressure is highest when your heart beats, pumping the blood. This is called systolic pressure. When your heart is at rest, between beats, your blood pressure falls. This is the diastolic pressure. Your blood pressure reading uses these two numbers. Usually they're written one above or before the other, such as 120/80. If your blood pressure reading is 90/60 or lower, you have low blood pressure.

Some people have low blood pressure all the time. They have no symptoms and their low readings are normal for them. In other people, blood pressure drops below normal because of a medical condition or certain medicines. Some people may have symptoms of low blood pressure when standing up too quickly. Low blood pressure is a problem only if it causes dizziness, fainting or in extreme cases, shock.

NIH: National Heart, Lung, and Blood Institute

The brain, spinal cord, and nerves make up the nervous system. Together they control all the workings of the body. When something goes wrong with a part of your nervous system, you can have trouble moving, speaking, swallowing, breathing, or learning. You can also have problems with your memory, senses, or mood.

There are more than 600 neurologic diseases. .....

Occupational Exposure

Syncope

Hypotension

Nervous System Diseases

Data provided by Medline"

I will keep on searching for the article that lead me to this info.

Pam
 

bertiedog

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Thankfully I am helped by 10 mg Propananol on getting up and sometimes I need another dose in the afternoon
just a thoguht to ask your doc, I am on the recommended dose for POTs of 20mg / 3 times a day ( you may ask your doctor to review your dose) maybe that will help you.
I also do a vassocontriction drug ( based on my case) sounds to me when they were not having my OI under control. Can your doctor help you to adjust things so you can be more comfortable?
I am waiting on my full genetics, will update when I get my results!!!
 

taniaaust1

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What I found was that I was homozygous for 12 SNPs for SLC6A2 and I wondered how many others here have found something similar when suffering with the difficulties that POTS creates.

Pam
I fairly sure I recognise the SLC6A2 SNP mutation as one which I saw quite a few times in my results of what I so far had analysed. I have POTS too. (I just tried to find my results to see just how many times it appears but cant currently find my results). I'll post back when I find them and go over it if I still remember this post.
 

bertiedog

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ust a thoguht to ask your doc, I am on the recommended dose for POTs of 20mg / 3 times a day ( you may ask your doctor to review your dose) maybe that will help you.
The only problem I would have with this is that a betablocker stops thyroid meds from working to a degree and I need them because I have Hashimotos so that's the reason I stick to a minimum dose of betablocker. I do take another dose if I am going out and doing physical stuff but otherwise I try and do without it apart from in the summer when virtually daily I take at least two doses a day and sometimes need 3.

I also find that caffeine in not very strong tea can trigger the symptoms but I still enjoy at least 4 cups a day of fairly weak tea!

Pam