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Methylene tetrahydrofolate reductase (MTHFR) plays a significant role in the metabolism of methionine. MTHFR deficiency is an autosomal recessive trait that could be a significant risk factor for a number of defects, for example, vascular events, due to lower dietary folate intake among South Indians. To find the incidence of 677 C>T and 1298 A>C in MTHFR gene single nucleotide polymorphisms (SNPs) among the south Indian population, polymerase chain reaction and restriction fragment length polymorphism were employed among 152 patients with myocardial infarction and 167 controls. The MTHFR 677CT genotype was found among 35 (22.4%) cases and 08 (4.8%) controls, the MTHFR 677CC allele was found among 115 (73.7%) cases and 159 (94.6%) controls. Also, the analysis of the MTHFR 1298A>C SNP identified the MTHFR 1298CC genotype among 16 (10.3%) cases and 01 (0.6%) control, the MTHFR 1298AC genotype was found in 56 (35.9%) cases and 27 (16.2%) controls, and the MTHFR 1298AA genotype was observed in 80 (51.3%) cases and 139 (82.6%) controls. The C vs. A allele also showed significantly higher frequency among the patients in comparison with the controls (p<0.0001). The results of this study indicate that the MTHFR A1298C SNP is more prevalent among south Indians compared with the MTHFR C677T SNP, suggesting a possible role of MTHFR A1298C in the pathogenesis of heart diseases.

Alkylating agents used in chemotherapy are mutagenic and have strong leukemogenic potential. The most serious long term complication of chemotherapy is the development of secondary disease, particularly hematological malignancy; they have rarely been reported in the context of ovarian cancer treatment. We describe quite a rare occurrence of a myelodyplastic/myeloproliferative neoplasm, unclassified (MDS/MPN-U) with acute leukemic transformation and multiple cytogenetic abnormalities not usually found together as JAK2 V617F mutation, 5q-and 7q-deletion, after exposure to paclitaxel and carboplatin based chemotherapy in a patient treated for ovarian cancer. We should be aware of such complication whose prognosis is really poor.

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