Endothelial Nitric Oxide Synthase (eNOS)

What is the eNOS (Endothelial Nitric Oxide Synthase) gene T786C mutation

When someone has a mutation in their eNOS gene it means that their body doesn’t produce an amino acid called L-Arginine (also refered to as Arginaid). Arginine is important because it leads to the formation of Nitric Oxide in the body.

Nitric Oxide widens blood vessels and increases blood flow within the body.

If you have the eNOS mutation your body doesn’t manufacture enough Arginine, therefore, it doesn’t produce Nitric Oxide which leads to vascular problems, i.e. clotting.

Considering that Osteonecrosis (Avascular Necrosis) is caused by a lack of blood supply to the bone, it is imperative that ON (AVN) sufferers be tested for the eNOS T786C gene mutation.

Most people with the T786C mutation are instructed to take Arginine, in powder form,  under the guidance of a medical professional.

More in-depth explanation of the eNOS mutation

Nitric Oxide is a free radical gas made in the endothelial cells from the amino acid, L-Arginine, by Nitric Oxide Synthase (eNOS). Nitric Oxide Synthases are a family of enzymes; biological molecules that make chemical reactions happen.

Nitric Oxide plays a major role in vasodilatation. Nitric Oxide widens the blood vessels, and maintains vascular tone in the body.

If there is the presence of the T786C mutation in the eNOS gene there is decreased synthesization  of Nitric Oxide. This decreased synthesization leads to vascular problems including: coronary spasm and thrombophilia.

The human body usually manufactures Arginine, in the case of people with the eNOS mutation their bodies do not sufficiently produce enough Arginine, therefore, their bodies cannot support Nitric Oxide Synthesization

How to get tested for the eNOS mutation

The eNOS blood test can not be performed at a LabCorp, LabOne or Quest Diagnostics and is not covered by insurance. The test costs $230. If you want to have your blood tested for the eNOS mutation you need to send your blood to Molecular Diagnostics Laboratory. The directions below might seem complicated and overwhelming, but it really isn’t any trouble to do if you can afford to have the test performed.

My doctor’s office was very happy to take my blood for me and let me leave their offices with a vial of my blood. I know it sounds strange, but here are the directions:

  • Have you GP’s office draw a EDTA (purple top) tube with a minimum volume of 2 mls of your blood.
  • Along with this form eNOS Test Request Form overnight your blood via UPS, DHL, Federal Express, so it arrives at the Molecular Diagnostics Laboratory by 10am the next morning.
  • Mail the blood along with the completed Test Request Form to:
    632 Russell Street
    Covington KY 41011
  • If you have any questions regarding the specimen collection
    call Molecular Diagnostics Laboratory  at 513.437.3000   Extension 306

7 thoughts on “Endothelial Nitric Oxide Synthase (eNOS)

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  4. Finally got my results fm Dr. Glueck (he just got them today), and I am abnormal! (yay?!) heterozygous, one abnormal allelle. Recommended arginaid. So glad to finally know and be able to do something.

    • Patty,

      Although I know it doesn’t seem like good news to be heterozygous for eNOS (I am too) I think it’s great that you have learned more about your body and now you know what to take!! Knowledge really is power, I firmly believe that, it has been my greatest weapon against osteonecrosis.

      • My goodness, hope you have done well with the Nitrous. Noted date of 2012 ! Just finding this at my young 78. I have AVN, in the past leg clot and again in 2015 3 pulmonary emboli. ( retired RN ). Do you feel this seemingly easy process was worth ? Please respond as I’m passed for years from one doc to another. Thank you, Eleanor

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