Are Genetic Mutations Putting Your Patients at Risk of Heart Attack or Stroke?
As
a health care professional, you know that hyperhomocysteinemia is a
widely recognized risk factor for venous thrombosis and
atherosclerosis. Either could result in heart attack or stroke.
Elevated homocysteine levels also have involvement in the pathogenesis
of neural tube defects, stillbirths and recurrent pregnancy loss.
Genetic
mutations are the most common inherited risk factor for elevated
homocysteine levels. Each of us has two copies of a gene called MTHFR (5,10-methylenetetrahydrofolate reductase), which we inherit from each of our parents. MTHFR produces an enzyme that helps regulate homocysteine levels.
If
genetic mutations exist in both copies of the gene, your patient may
have an impaired ability to process folate, which in turn leads to high
homocysteine levels.
Iverson's MTHFR Assay Can Help
Now,
thanks to genomic medicine, you have the means to quickly, easily and
cost-effectively determine whether your patients have the genetic
mutations that lead to elevated homocysteine levels.
Identifying
these genetic variants early can help you decide whether to recommend
that your patients receive more frequent homocysteine screening,
supplementation, or further tests. Genetic counseling and preventative
approaches for these patients can emphasize the importance of
developing lifestyles that decrease cardiovascular risk factors before
an adverse event occurs.
Testing is Fast and Simple
With
our easy-to-use test kit, you simply take a sample (saliva or blood)
and send it to our laboratory. In just days, you'll have a definitive
report that will help you make the very best decisions to help your
patients avoid hereditary clotting problems.
Understanding the Genetics
The
most common MTHFR variant is C677T. It causes the production of a
thermolabile enzyme and decreased recycling of folate required for
homocysteine metabolism. The presence of a second mutation in the MTHFR
gene, A1298C, in conjunction with C677T has been associated with
decreased enzyme activity and hyperhomocysteinemia.
The
C677T variant is extremely common: up to 43% of the population is
heterozygous and approximately 12% are homozygous for the variant.1,2
C677T homozygosity is associated with a three-fold risk of premature
cardiovascular disease, including pulmonary emboloism, stroke, coronary
artery disease and myocardial infarction in adults. It also may play a
role in the risk of high blood pressure in pregnancy (pre-eclampsia).
The
frequency of the A1298C variant is reported to be as high as 30% in the
general Caucasian population. A1298C in conjunction with C677T is
associated with decreased MTHFR activity and hyperthomocysteinemia.3
Additionally, research suggest the A1298C and C677T variants lead to
low levels of folate, and for pregnant women, brain and neural tube
(spinal cord) defects in their children.4
Iverson Service: Rapid, Detailed and Always Ready to Help You
At Iverson, we know that your first priority as a health care professional is to provide the best patient care in the most efficient and cost-effective manner.
Our first priority is to make sure we provide you with exactly that. In
addition to having one of the world's best and most sophisticated
laboratories, we offer:
- Rapid turn-around times for your tests
- Easy-to-use test kits
- Detailed, easy-to-understand reports
- Personalized 24/7 customer service
References
1. Wald
DS, Law M, Morris JK. Homocysteine and cardiovascular disease: evidence
on causality from meta-analysis. BMJ [Internet]. 2002 [cited 2008 July
22];325:1202-1206. Available from:
http://bmj.com/cgi/content/full/325/7374/1202
2.
Botto LD, Yang Q. 5,10-methylenetetrahydrofolate reductase gene
variants and congenital anomalies: a huge review. Am J Epidemiol.
2000;151(9):862-877.
3.
Markan S, Meenakshi S, Sehrawat BS, Kumari S, Jain S, Khullar M. MTHFR
6777 CT/MTHFR 1298 CC genotypes are associated with increased frisk of
hypertension in Indians. Mol Cell Biochem [Internet]. 2007[cited 2008
Nov 10];302:125-131. Available from:
http://www.springerlink.com/content/trx5864m28851177/full
test.pdf?page=1
4. Sunder-Plassmann G, Födinger M. Genetic determinants of homocysteine level. Kidney International. 2003;63 suppl 84:S141-S144.
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