Background: Folate metabolism dysfunctions can result in DNA hypomethylation and abnormal chromosome segregation. Two common polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) encoding gene (C677T and A1298C) reduce MTHFR activity, but when associated with aneuploidy, the results are conflicting. Turner Syndrome (TS) is an interesting model for investigating the association between MTHFR gene polymorphisms and nondisjunction because of the high frequency of chromosomal mosaicism in this syndrome. Objective: To investigate the association of MTHFR gene C677T and A1298C polymorphisms in TS patients and their mothers and to correlate these polymorphisms with maternal risk of TS offspring. Subjects and Methods: MTHFR C677T and A1298C polymorphisms were genotyped in 33 TS patients, their mothers and 15 healthy females with their mothers as controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and sequencing technique. Results: Genotype and allele frequencies of both C677T and A1298C were not significantly different between TS cases and controls. There were no significant differences in C677T genotype distribution between the TS mothers and controls (p=1). The MTHFR 1298AA and 1298AC genotypes were significantly increased in TS mothers Vs. control mothers (p=0.002). The C allele frequency of the A1298C polymorphism was significantly different between the TS mothers and controls (p=0.02). The association of A1298C gene polymorphism in TS patients was found to increase with increasing age of both mothers (p=0.026) and fathers (p=0.044) of TS cases. Conclusion: Our findings suggest a strong association between maternal MTHFR A1298C and risk of TS in Egypt.
Aim: Several studies suggest that coal miners are under risk of severe health problems such as cardiovascular, pulmonary, neurological, renal, hematological and musculoskeletal disorders. However, there are limited data on biochemical changes in underground workers. In our study we aimed to evaluate the association between serum homocysteine (Hcy), vitamin B12, cystatin C and folate levels in the blood of underground coal miners. Materials and Methods: Eighty one coal miners who work as underground or surface workers were recruited into our study. The study population was divided into two groups: the surface worker group (control group, n=33) and the underground worker group (n=48). The folate, vitamin B12, Hcy, cystatin C levels and body mass indexes (BMI) of both groups were measured and compared. Serum folate, Hcy and vitamin B12 levels were measured with a competitive chemiluminescence immunassay. Serum levels of cystatin C were determined by the latex particle-enhanced turbidimetric method using a cystatin C kit. Urea values were measured with a kinetic method on an automated analyzer. Results: There were no statistically significant differences between the underground workers and surface workers in the urea, cystatin C and vitamin B12 levels. High serum Hcy levels and low folate levels were found in underground workers compared with those in surface workers. The correlation between Hcy and folate levels was also statistically significant. Similarly, there was also a significant correlation between Hcy and vitamin B12, and between Hcy and cystatin C levels. Conclusions: Elevated Hcy levels may be associated with underground working but further research is necessary to understand the relation between elevated Hcy and increased prevalence of health problems in coal miners.
High serum homocysteine (Hcy) level is regarded as an indicator for impairment of folate-dependent methionine cycle and is associated with oxidative stress. In a case control study, we evaluated eighty 3-5 years old Omani children (40 diagnosed with Autism Spectrum Disorder and 40 their age and gender matched controls) for their fasting serum homocysteine levels as a biomarker of Autism Spectrum Disorder (ASD). Serum folate and vitamin B12 status were also evaluated. The serum homocysteine was measured using an enzyme immunoassay (EIA) technique whereas folate and vitamin B12 were measured using an automated random access immune-assay system. The results indicated that mean serum Hcy levels were significantly (P < 0.05) higher in autistic children (20.1 ± 3.3 µmol/L) as compared to controls (9.64 ± 2.1 µmol/L). Significantly (P < 0.05) lower serum folate (1.8 ± 0.4 µg/L) and vitamin B12 (191.1 ± 0.9 pg/mL) levels were observed in autistic children as compared to controls (6.1 ± 0.6 µg/L and 288.9 ± 1.3 pg/mL, respectively). The levels of homocysteine in autistic children were also much higher as compared to normal reference values (5-15 µmol/L). The results suggest that high fasting serum homocysteine and low folate and vitamin B12 levels could be used as clinical biomarkers for an early diagnosis and management of ASD.
INTRODUCTION: The etiology of congenital heart defects (CHD) and neural tube defects (NTD) remain unknown, however, the relation between homocysteine and folate levels and congenital anomalies were found. With this perspective in mind, the aim of the study was to investigate serum biomarkers of the homocysteine metabolism pathway in neonates with CHD, newborns with NTD and their mothers. MATERIALS AND METHODS: Twenty-one pairs of mothers and their neonates with CHD as well as 18 pairs of mothers and neonates with NTD were enrolled in the study. The control group consisted of 54 pairs of mothers and their healthy neonates. To estimate the total homocysteine, serum folic acid and vitamin B12 levels in plasma, mothers’ venous blood samples and umbilical cord blood were taken in the all groups. RESULTS: There were significantly higher tHcy levels in the newborns with CHD compared to their mothers. The total homocysteine levels in the CHD neonates were noticeably different compared to the neonates with NTD and to the controls. The vitamin B12 levels were similar in all the investigated neonates. Significantly lower umbilical folic acid levels in the NTD and CHD groups as compared to the controls were noticed. CONCLUSIONS: The observed differences in concentrations of homocysteine, folic acid and cobalamin between neonates with congenital heart and neural tube defects suggest the influence of various agents disturbing the homo-cysteine metabolic pathways in those children.
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WSTĘP: Etiologia wrodzonych wad serca (WWS) oraz wad cewy nerwowej (WCN) jest niewyjaśniona, wykazano jednak związek między stężeniem homocysteiny oraz kwasu foliowego a występowaniem wrodzonych anomalii. Celem pracy była ocena stężenia biochemicznych markerów szlaku metabolizmu homocysteiny u noworodków z WWS oraz WCN i ich matek. MATERIAŁ I METODY: Badaniem objęto 47 par – matka i jej noworodek urodzony z WWS (n = 29) i WCN (n = 18). Grupę kontrolną (GK) stanowiły 54 pary matek i ich zdrowe dzieci. Próbki krwi matki i krwi pępowinowej pobierano w celu oznaczenia stężenia tHcy, kwasu foliowego i witaminy B12. WYNIKI: Stężenie tHcy u noworodków z WWS było znamiennie wyższe niż u ich matek oraz u dzieci z WCN. Stężenie tHcy u noworodków z WCN było znamiennie wyższe niż w grupie kontrolnej. Stężenia witaminy B12 były podobne u wszystkich badanych noworodków w porównaniu z wartościami stwierdzonymi u ich matek. U noworodków z WCN i WWS stężenie kwasu foliowego w krwi pępowinowej było znamiennie niższe niż u dzieci z grupy kontrolnej. WNIOSKI: Zaobserwowane różnice w stężeniu homocysteiny i kwasu foliowego między noworodkami z wrodzonymi wadami serca i wadami cewy nerwowej sugerują obecność dodatkowych czynników zaburzających szlaki metaboliczne homocysteiny u tych dzieci.
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