5,10-Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms: genotype frequency and association with homocysteine and folate levels in middle-southern Italian adults.

Two genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene (C677T and A1298C) can influence the plasma homocysteine (Hcy) levels, especially in the presence of an inadequate folate status. The aim of this study was to evaluate the frequencies of C677T and of A1298C MTHFR polymorphisms and their correlation with Hcy and serum folate concentrations in a population of blood donors living in a region of middle-southern Italy (the Molise Region). One hundred ninety seven blood donors were studied for total plasma Hcy, serum folate and C677T and A1298C MTHFR genotypes. The frequency of C677T genotypes was 20.8% (CC), 49.8% (CT) and 29.4% (TT); for the A1298C genotypes: 48.7% (AA), 43.7% (AC) and 7.6% (CC). Hcy and serum folate concentrations were significantly different among genotypes of the C677T polymorphism (CC versus CT versus TT: <0.0001 both for Hcy and folate), with Hcy values increasing, and serum folate decreasing, from CC to TT subjects. Regarding to A1298C polymorphism, the difference among genotypes (AA versus AC versus CC; p: 0.026 for Hcy and 0.014 for serum folate), showed an opposite trend for both parameters, with Hcy higher in the wild-type and lower in the homozygotes and serum folate higher in CC than in AA subjects. In conclusion, we found a high frequency of MTHFR allele associated with high level of Hcy and low levels of folate in an Italian southern population.

Detection of 14 human papillomavirus genotypes in cervical samples in women from a central-southern area of Italy showing different Pap test results.

We evaluated the prevalence of human papillomavirus (HPV) infection and correlated the molecular test results with the cytological examination data (PAP test) in 364 women living in central-southern Italy (Molise region), by means of polymerase chain reaction HPV DNA genotyping and of cervical cytology. One hundred and twenty-eight women resulted HPV positive (35.2%), HPV16 being the most frequent genotype. HPV positive women were significantly younger than negative patients (35.9 +/- 8.4 years and 38.2 +/- 9.1, respectively; p = 0.018); women with multiple infections were also significantly younger than those with single infection (31.7 +/- 6.9 and 37.6 +/- 8.3, respectively; p = 0.0002). Moreover, high risk HPV positive patients were significantly younger than low risk HPV positive women (35.1 +/- 7.7 and 40.5 +/- 10.5, respectively; p = 0.008). In the HPV positive group, 14 patients (10.9%) did not show any significant cytological alteration. Conversely, 7 out of 236 HPV negative women (3.0%) showed high grade squamous intraepithelial lesions (HSIL). Furthermore, HPV 16 or 18 were present in more than 70% of women positive for HSIL at cytology. Our data suggest the potential effectiveness of combined cytology and molecular test for further study of clinical cases with apparently laboratory conflicting results.

Fos protein expression following acute administration of diethyldithiocarbamate in rats.

Dithiocarbamates are compounds commonly used in medicine and in agriculture and their prolonged use is known to result in neurotoxicity. Whether this response may be related to early gene expression has not been investigated. We have addressed this issue by mapping Fos expression in rats acutely injected with diethyldithiocarbamate (DDTC) and correlating these data to neural damage in the hippocampus as determined by pyknotic nuclei count. In comparison to saline injected rats, DDTC treatment induced a marked Fos expression in most brain regions at 1 and 3 h. In the hippocampus, a high Fos expression was followed by a variable number of pyknotic nuclei at 6 h, depending on the subregion. The data suggest that, in this model of neurotoxicity, c-fos induction does not reflect a cell commitment to die or survive, but rather a cell response to the DDTC-induced oxidative disorder.