Abstract

Folate deficiency—inadequate levels of folic acid—has been associated with neural tube defects (NTD), cardiovascular disease and anemia. It is only recently that folate deficiency has been implicated in the development of cancer. It has been hypothesized that folate may modulate cancer risk, notably risk of cervix and colorectal cancer, and less well studied breast cancer and a rapidly growing number of other cancer sites such as lung, pancreas, stomach, esophagus, leukemia, skin and endometrium.

The LSU Medical School Pediatrics Genetics Laboratory at LSUHCS-S has been studying methylene tetrahydrofolate reductase (MTHFR C677T) and methionine synthase reductase (MTRR A66G) polymorphisms in various disorders and cancers. These polymorphisms have been studied in birth defects such as neural tube defects (NTDs) and chromosomal defects, retinal vascular occlusions, orofacial clefts, and multiple myeloma.

MTHFR and MTRR are involved in the single carbon metabolism in purine and pyrimidine biosynthesis and in the remethylation of homocysteine to methionine in the transsulfuration pathway in the methylation of DNA. Mutations in MTHFR and MTRR genes lead to hyperhomocysteinemia, a condition that leads to birth defects, vascular occlusions, anemia, and possibly cancer.

In order to study these polymorphisms, blood samples were analyzed by PCR and gel electrophoresis. In this study, it was found that the MTHFR C677T polymorphism may be linked to certain types of cancer in Caucasians. It was also found that the MTRR A66G polymorphism may be linked to certain types of cancer in African Americans.