Case Histories

Cardiovascular Disease and Genomics

An independent risk factor for cardiovascular disease is a person’s homocysteine level.

On a routine blood test, a 55-year old Caucasian male had a homocysteine level of 12.6 slightly above the reference range of 5 to 12 umol/L. This was significant because this individual consumed a potent daily nutritional supplement containing 75 mg each vitamin B1, B-2, B-6, 400 mcg folic acid and 75 mcg vitamin B-12. His homocysteine levels should not have been elevated; elevated homocysteine levels are generally associated with poor vitamin B nutrition.

A functional genomic test revealed a SNP (single nucleotide polymorphism) on the MTHFR gene; MTHFR codes for an enzyme (methylenetetrahydrofolate reductase) responsible for converting folic acid to its next intermediate in the folic acid pathway. The functional genomic testing showed that this individual’s folic acid metabolism was not functioning normally creating a cardiovascular risk.

To overcome the SNP on the MTHFR gene, the individual was given a nutritional product that provided the necessary downstream nutrients to promote normal folic acid metabolism evidenced by a normal homocysteine level (5.6 umol/L) two months after the nutrigenomic intervention. Therefore, actions taken based on the results of the functional genomic test normalized homocysteine levels and reduced this individual’s risk for cardiovascular disease.

References:

Thermolabile 5, 10 methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinema.
Engbersen, AM, DG Franken, GH Boers, et al
American Journal of Human Genetics 56: 142-150 (1995)

Homocysteine, vitamins and vascular disease prevention.
McCully, K.
American Journal of Clinical Nutrition 86: 1563S-1568S (2007)