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Here is some information about the MTHFR mutation:
Thrombosis in the venous or arterial system is quite common in systemic lupus erythematosus (SLE), especially those with antiphospholipid syndrome. Thrombophilic mutations of factor V, prothrombin and methylene tetrahydrofolate reductase genes are being studied in patients with SLE and thrombosis. Thrombosis is the forming of a blood clot in the arteries or the heart cavity.
Researchers found T mutation in the methylenetetrahydrofolate reductase gene in 84% of the patients with lupus anticoagulants. Those patients also had increased titres of anticardiolipin antibodies. A history of thrombosis was present in 63% of their patients and they also suffered from venous thrombosis only. Some patients also had arterial thrombosis and a small number of patients had both venous and arterial thrombosis.
It is well known that vascular damage in SLE occurs because of multiple mechanisms including "hypercoagulation" (blood clots). It has been recently reported that in SLE patients, raised levels of homocysteine are associated with arterial thrombosis. (Homocysteine is an amino acid (a building block of protein) that is produced in the human body. High homocysteine levels in the blood can cause cholesterol to change to something called oxidized low-density lipoprotein, which damges the arteries. In addition, high homocysteine levels may make blood clot more easily than it should. This can increase the risk of blood vessel blockages. A blockage might cause you to have a stroke. It might also make a problem with blood flow, such as atherosclerosis, worse.) A healthy homocysteine level is less than 12 Ámol per L. A level greater than 12 Ámol per L is considered high. The most common genetic defect in homocysteine metabolism is a decreased activity of a common 5,10-methylenetetrahydrofolate reductase (MTHFR). methylenetetrahydrofolate reductase (MTHFR) is an enzyme required for efficient homocysteine metabolism. The genetic mutation in methylenetetrahydrofolate reductase creates a thermolabile enzyme with reduced activity. Thermaolbile means: Subject to destruction, decomposition, or great change by moderate heating. This term is primarily used when talking about biochemical substances.
Although the thermolabile MTHFR mutation is very common in SLE, it is felt that this does not predispose patients with a significant genetic risk factor for late-onset vascular disease. The risk is greater with those SLE patients with antiphospholipid syndrome. The detection of the abnormalities may have major practical consequences for the long-term management of these SLE patients with a positive lupus anticoagulant (LAC), in order to prevent further thrombotic episodes.
I hope this information has been helpful. Let me know if you need anything further!
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