Why being tested for the e(NOS) mutation is important

Yesterday I posted this under clotting disorders:

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.

1 thought on “Why being tested for the e(NOS) mutation is important

  1. Thank you for this information. When you get the diagnosis of a particular gene mutation, often you are unsure which direction too go. Thanks for the info.

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