RESUMO
OBJECTIVE: Clefts of the lip, with or without cleft palate and cleft palate only, collectively called as orofacial clefts (OFCs) are one of the most common congenital malformations with varying degrees of penetrance and phenotype expressions. The aim of this study was to investigate the association between methylenetetrahydrofolate reductase (MTHFR) cytosine-to-thymine (c. 677 C>T), adenine-to-cytosine (c.1298 A>C) single- nucleotide polymorphisms (SNPs) and South Indian patients with the nonsyndromic cleft lip with or without palate (NSCL ± P). METHODS: A cohort consisting of 25 cases of NSCL ± P and 18 controls from a South Indian cohort were included in this case-control study. Genetic analysis of c.677C>T and c.1298A C polymorphisms in the MTHFR gene was carried out using Sanger sequencing and analyzed from chromatogram profiles. Data interpretation was done using statistical software MedCalc Statistical Software version 16.2 and the Statistical Package for the Social Sciences (SPSS version 22.0). RESULTS: DNA sequence analysis of the MTHFR gene revealed c. 677C>T and c. 1298A>C polymorphisms in 16% and 76% of NSCL ± P cases, respectively. Heterozygous variant in MTHFR c. 1298A>C polymorphism was found to be a significant risk factor (P = 0.0164) for NSCL ± P in South Indian ethnic population. c.677C>T polymorphism, in particular, was apparently dormant overall in the study population. These results offer certain novelty in terms of the distinctive pattern in SNPs of genotypes observed in the study. CONCLUSION: NSCL ± P is one of the most common and challenging congenital malformations with complex etiological basis. Common risk factors such as MTHFR SNPs, namely c.677C>T and c.1298A>C, are subjected to variations in terms of ethnic group, geographic region and micro/macro-environmental factors. Overall, our study has explored part of South Indian ethnic population and revealed a different and unique distribution of mutations in this sample population.
RESUMO
BACKGROUND: Cancer is Latinized from Greek word 'karkinos' meaning crab, denoting how carcinoma extends its claws like a crab into adjacent tissues. It has been well established by researchers that virtually all oral cancer are preceded by visible clinical changes in the oral mucosa usually in the form of white or red patch (two-step process of cancer development). Mg is an essential mineral that is needed for a broad variety of physiological functions. Imbalances in Mg metabolism are common and are associated with different pathological conditions. The purpose of this study was to evaluate and compare the magnesium concentration in blood serum and saliva of oral squamous cell carcinoma, potentially malignant disorders and healthy subjects to serve as a positive marker or indicator in the process of carcinogenesis. MATERIALS AND METHODS: The study includes 17 precancerous (OSMF + Leukoplakia) patients, 17 OSCC and 17 control group. Blood and saliva was collected; serum and saliva was extracted from both the groups and was biochemically evaluated for magnesium levels. Statistical analysis was performed using ANOVA. RESULTS: The Salivary magnesium Mean ± SD of Healthy group is higher 1.6681 ± 0.0207 mmol mg/l followed by Potentially Malignant Disorder group 1.5532 ± 0.0283 and Oral Squamous Cell Carcinoma 0.5979 ± 0.0659. The mean values differ significantly between 3 groups (P < 0.001) The Serum magnesium Mean ± SD of Healthy group is higher 1.9188 ± 0.0550 mmol mg/l followed by Potentially Malignant Disorder group 1.6951 ± 0.0949 and Oral Squamous Cell Carcinoma 0.7329 ± 0.1561. The mean values differ significantly between 3 groups (P < 0.001) The study revealed decreased serum and salivary magnesium in oral precancerous patients and an Oral Squamous cell carcinoma patients compared to healthy individuals. CONCLUSION: The magnesium concentration was low in both blood plasma and saliva of oral squamous cell carcinoma as compared to potentially malignant disorders and healthy subjects. Thus the magnesium ion concentration in blood plasma and saliva could be considerd as tumor marker, playing an important role in carcinogenesis.
