Genetic discoveries and technological advances have been changing nursing care delivery, which modifies the roles and practices of nursing in society. Although the need for education of nurses in the ...field of genomics has been recognized in the 1960s, many countries still have no clear guidelines in this field of education and training. The purpose of this study was to evaluate current genomics content in the curriculum of undergraduate and graduate programs of studies in nursing in Croatia, and to measure the genomic literacy of Croatian undergraduate nursing students through assessing participants' understanding of genomic concepts most critical to nursing practice. The curriculum of undergraduate and graduate programs of nursing classes of 2020/2021 were independently analyzed by the authors. For measuring the knowledge of essential genomic concepts among nurses, a Genomic Nursing Concept Inventory (GNCI
) instrument was employed. Results indicate that the current genomics content, for undergraduate and graduate nursing programs in Croatia, is inadequate and not concordant among universities. Moreover, the genomic literacy of Croatian undergraduate students (Undergraduate program 10) was found to be low. Scores across respondents ranged from 3 to 22 (out of possible 31), with a mean scale score 9.8 (SD 5.3) (31.6% correct). We can conclude that the curriculum for undergraduate and graduate programs of Studies in nursing should be revised to implement the latest genomic practices and approaches to genomics education while nurses should acquire an adequate level of genomic literacy in order to produce desired outcomes of competency in nursing practice.
Impairments of the genes that encode enzymes that are involved in one-carbon metabolism because of the presence of gene polymorphisms can affect the methylation pattern. The altered methylation ...profiles of the genes involved in cardiogenesis may result in congenital heart defects (CHDs). The aim of this study was to investigate the association between the
rs1801133,
rs1801131,
rs1801394,
rs2228611,
rs1550117,
rs1569686, and
rs2424913 gene polymorphisms and congenital heart defects in Down syndrome (DS) individuals. The study was conducted on 350 participants, including 134 DS individuals with CHDs (DSCHD+), 124 DS individuals without CHDs (DSCHD-), and 92 individuals with non-syndromic CHD. The genotyping was performed using the PCR-RFLP method. A statistically significant higher frequency of the
rs2424913 TT in the DSCHD+ individuals was observed. The
rs2424913 TT genotype, as well as the T allele, had significantly higher frequencies in the individuals with DS and atrial septal defects (ASDs) in comparison with the individuals with DS and other CHDs. Furthermore, our results indicate a statistically significant effect of the
rs1569686 TT genotype in individuals with non-syndromic CHDs. The results of the study suggest that the
rs2424913 TT genotypes may be a possible predisposing factor for CHDs in DS individuals, and especially those with ASDs.
Down syndrome (DS, also known as trisomy 21) most often results from chromosomal nondisjunction during oogenesis. Numerous studies sustain a causal link between global DNA hypomethylation and genetic ...instability. It has been suggested that DNA hypomethylation might affect the structure and dynamics of chromatin regions that are critical for chromosome stability and segregation, thus favouring chromosomal nondisjunction during meiosis. Maternal global DNA hypomethylation has not yet been analyzed as a potential risk factor for chromosome 21 nondisjunction. This study aimed to asses the risk for DS in association with maternal global DNA methylation and the impact of endogenous and exogenous factors that reportedly influence DNA methylation status. Global DNA methylation was analyzed in peripheral blood lymphocytes by quantifying LINE-1 methylation using the MethyLight method. Levels of global DNA methylation were significantly lower among mothers of children with maternally derived trisomy 21 than among control mothers (P = 0.000). The combination of MTHFR C677T genotype and diet significantly influenced global DNA methylation (R2 = 4.5%, P = 0.046). The lowest values of global DNA methylation were observed in mothers with MTHFR 677 CT+TT genotype and low dietary folate. Although our findings revealed an association between maternal global DNA hypomethylation and trisomy 21 of maternal origin, further progress and final conclusions regarding the role of global DNA methylation and the occurrence of trisomy 21 are facing major challenges.
Despite considerable effort aimed at decreasing the incidence of spontaneous preterm birth (SPTB), it remains the leading cause of infant mortality and morbidity. The aim of this study was to ...evaluate maternal LINE-1 DNA methylation (DNAm), along with DNMT polymorphisms and factors proposed to modulate DNAm, in patients who delivered early preterm. This case-control study included women who delivered spontaneously early preterm (23–336/7 weeks of gestation), and control women. DNAm was analyzed in peripheral blood lymphocytes by quantification of LINE-1 DNAm using the MethyLight method. There was no significant difference in LINE-1 DNAm between patients with early PTB and controls. Among the investigated predictors, only the history of previous PTB was significantly associated with LINE-1 DNAm in PTB patients (β = −0.407; R2 = 0.131; p = 0.011). The regression analysis showed the effect of DNMT3B rs1569686 TT+TG genotypes on LINE-1 DNAm in patients with familial PTB (β = −0.524; R2 = 0.275; p = 0.037). Our findings suggest novel associations of maternal LINE-1 DNA hypomethylation with DNMT3B rs1569686 T allele. These results also contribute to the understanding of a complex (epi)genetic and environmental relationship underlying the early PTB.
Congenital heart defects (CHD) are the most common abnormalities occurring in 40% -60% of Down syndrome (DS) patients. The 5-methyltetrahydrofolate homocysteine methyl transferase reductase (MTRR) is ...one of the key regulatory enzymes involved in folate pathway. Disrupted folate pathway due to MTRR polymorphism could be a risk factor for CHD in DS. The aim of the study was to determine the association between polymorphism MTRR 66A> G and CHD in DS. Additionally, the impact of maternal endogenous factors on CHD was analyzed, intake of folate through diet, periconceptional folic acid supplementation, smoking and alcohol drinking. A total of 155 children with DS and 148 their mothers have been enrolled in this study. Genotyping was performed by PCR-RFLP. The frequency of alleles and genotypes of MTRR 66A> G polymorphisms was not significantly different between a group with CHD compared to a group without CHD among DS subjects as well as in their mothers. The mothers with mutated homozygous genotypes who have taken folic acid preparations from the fourth week before pregnancy to eight weeks of pregnancy were more likely to have DS-CHD+ child. The study results suggested that maternal MTRR 66A> G polymorphisms associated with their lifestyle habits such as folic acid intake could altered individual risk for CHD in DS child.
Down syndrome (DS) is one of the most common chromosomal abnormalities associated with congenital heart defects (CHD), with approximately 40 to 60% of cases showing cardiac defects. This study ...assessed (i) the association between maternal LINE-1 methylation and the occurrence of CHDs in children with DS and (ii) the impact of endogenous maternal factors (
C677T polymorphism and maternal age) and exogenous maternal factors (cigarette smoking, alcohol intake, medication use, body mass index and dietary habits such as folate intake) on maternal LINE-1 methylation and on the occurrence of CHD in children with DS.
The study included 90 mothers of children with DS of maternal origin (49% DS-CHD
mothers/51% DS-CHD
mothers). LINE-1 DNA methylation was analyzed in peripheral blood lymphocytes by quantification of LINE-1 methylation using the MethyLight method.
C677T polymorphism genotyping was performed using PCR-RFLP.
LINE-1 methylation was not significantly different between DS-CHD
and DS-CHD
mothers (
= 0.997). Combination of
C677T genotype/diet and BMI were significant independent predictors of LINE-1 DNA methylation in DS-CHD
mothers (β -0.40,
= 0.01 and β -0.32,
= 0.03, respectively). In the analyzed multivariate model (model
= 0.028), these two factors explained around 72% of the variance in LINE-1 DNA methylation in mothers of children with DS and CHD. The group with the highest BMI (≥30 kg/m2) had significantly lower LINE-1 methylation than the group with normal BMI (Bonferroni
= 0.03) and the overweight group (Bonferroni
= 0.04). The lowest LINE-1 DNA methylation values were found in DS-CHD
mothers with the CT+TT genotype and a low-folate diet; the values were significantly lower than the values in mothers with the CC genotype and a folate-rich diet (Bonferroni
= 0.04).
Association between maternal LINE-1 methylation and CHD in children with DS was not found. Study showed that the
genotype/diet combination and BMI were significantly associated with LINE-1 methylation in mothers of children with DS-CHD
. These results highlight the need for a multifactorial approach to assess the roles of endogenous and exogenous maternal factors in maternal LINE-1 DNA methylation and the consequent pathologies in children. More extensive studies in a larger sample may help elucidate these relationships.
Downov sindrom najčešća je aneuploidija kromosoma 21. Neurorazvojni poremećaji i tipične kraniofacijalne dismorfije prisutne su u različitom stupnju u svih osoba. Prirođene srčane greške najčešća su ...kongenitalna anomalija, s prevalencijom 40-55 %. Najčešće prirođene srčane greške u osoba s Downovim sindromom jesu septalni defekti. Uzrok prirođenih srčanih grešaka do danas nije u potpunosti razjašnjen. Pretpostavka je da polimorfizmi gena uključeni u metabolizam folata i homocisteina utječu na obrazac metilacije DNA, što može rezultirati razvojem prirođene srčane greške. Cilj rada je kroz pregled literature istražiti ulogu polimorfizama gena
MTHFR, MTRR i DNMT
u etiologiji prirođenih srčanih grešaka u osoba s Downovim sindromom.
Down syndrome is the most common aneuploidy of chromosome 21. Neurodevelopmental abnormalities and typical craniofacial dysmorphia are present to varying degrees in all individuals. Congenital heart defects are the most common congenital anomaly, with a prevalence of 40-55%. The most common congenital heart defects in individuals with Down syndrome are septal defects. The cause of congenital heart defects is still largely unknown. Polymorphisms of genes involved in folate and homocysteine metabolism are thought to influence the pattern of DNA methylation that may lead to congenital heart defect.
The aim of this study is to evaluate the role of
MTHFR
,
MTRR
and
DNMT
gene polymorphisms in the etiology of congenital heart defects in individuals with Down syndrome based on a literature review.
Evidence suggests that the dimer configuration of methylenetetrahydrofolate reductase (MTHFR) enzyme might be destabilized by polymorphisms in monomers at the positions C677T and A1298C. It has been ...observed that these polymorphisms may lead to stable (CCAA, CCAC, CCCC) and unstable (CTAA, CTAC, TTAA) enzyme dimer configurations.
The aim of this study was to evaluate the association of the MTHFR enzyme dimer configuration and folate dietary intake with the stage of meiotic nondisjunction in mothers of children with maternally derived trisomy 21.
A total of 119 mothers of children with maternally derived free trisomy 21 were included in the study. The mean maternal age at the time of the birth of the child with trisomy 21 was 32.3 ± 6.4 (range 16-43) years. All mothers were Caucasian. Parental origin of trisomy 21 and meiotic stage of nondisjunction was determined using short tandem repeat markers spanning from the centromere to the telomere of chromosome 21q. The MTHFR C677T and A1298C polymorphism was evaluated by PCR-RFLP.
Increased frequency of the MTHFR genotype combinations CTAA, CTAC, and TTAA was found in the group of mothers with meiosis I (MI) nondisjunction (p = 0.007). No differences were found between study participants regarding dietary and lifestyles habits.
The risk for MI nondisjunction of chromosome 21 was 4.6-fold higher in cases who had CTAA, CTAC, and TTAA MTHFR genotype combinations and who did not used folic acid supplements in the preconception period.
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