Cargando…
Role of folate metabolizing genes and homocysteine in mothers of Down syndrome children
OBJECTIVES: Folates are essential nutrients required for the synthesis of DNA/RNA in cell division and segregation. Folates are reduced and methylated in the liver with the help of enzymes such as methylenetetrahydrofolate reductase (MTHFR), MTR MTRR, reduced folate carrier 1, and cystathionine-β-sy...
Autores principales: | , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9791858/ https://www.ncbi.nlm.nih.gov/pubmed/36578639 http://dx.doi.org/10.4103/tcmj.tcmj_258_21 |
_version_ | 1784859507476660224 |
---|---|
author | Kaur, Amandeep Kaur, Anupam |
author_facet | Kaur, Amandeep Kaur, Anupam |
author_sort | Kaur, Amandeep |
collection | PubMed |
description | OBJECTIVES: Folates are essential nutrients required for the synthesis of DNA/RNA in cell division and segregation. Folates are reduced and methylated in the liver with the help of enzymes such as methylenetetrahydrofolate reductase (MTHFR), MTR MTRR, reduced folate carrier 1, and cystathionine-β-synthase. Variants in the genes encoding these enzymes may lead to hypomethylation, resulting in nondisjunction which in turn increases the risk for Down syndrome (DS). The present study was conducted to genotype these genes and to see their association with homocysteine levels. MATERIALS AND METHODS: A total of 213 mothers having DS children and 220 mothers having normal children were enrolled in the study. Genomic DNA was isolated from lymphocytes followed by polymerase chain reaction/Restriction Fragment Length Polymorphism for genotyping. Homocysteine levels were checked by chemoassay utilizing coumarin-based fluorescent probe. RESULTS: Genotypic frequency of MTHFR 1298 A > C polymorphism was significantly different among cases and controls (χ(2) = 5.83, P = 0.01), presence of C instead of A allele provided protection against DS in mothers (odds ratios = 0.57, 95% confidence interval = 0.35–0.91, P = 0.01). Higher levels of homocysteine were independently associated with the risk of having DS child (P = 0.0001). CONCLUSION: Homocysteine acted as an independent risk factor in the present study and was not associated with folate metabolizing gene variants. |
format | Online Article Text |
id | pubmed-9791858 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
spelling | pubmed-97918582022-12-27 Role of folate metabolizing genes and homocysteine in mothers of Down syndrome children Kaur, Amandeep Kaur, Anupam Tzu Chi Med J Original Article OBJECTIVES: Folates are essential nutrients required for the synthesis of DNA/RNA in cell division and segregation. Folates are reduced and methylated in the liver with the help of enzymes such as methylenetetrahydrofolate reductase (MTHFR), MTR MTRR, reduced folate carrier 1, and cystathionine-β-synthase. Variants in the genes encoding these enzymes may lead to hypomethylation, resulting in nondisjunction which in turn increases the risk for Down syndrome (DS). The present study was conducted to genotype these genes and to see their association with homocysteine levels. MATERIALS AND METHODS: A total of 213 mothers having DS children and 220 mothers having normal children were enrolled in the study. Genomic DNA was isolated from lymphocytes followed by polymerase chain reaction/Restriction Fragment Length Polymorphism for genotyping. Homocysteine levels were checked by chemoassay utilizing coumarin-based fluorescent probe. RESULTS: Genotypic frequency of MTHFR 1298 A > C polymorphism was significantly different among cases and controls (χ(2) = 5.83, P = 0.01), presence of C instead of A allele provided protection against DS in mothers (odds ratios = 0.57, 95% confidence interval = 0.35–0.91, P = 0.01). Higher levels of homocysteine were independently associated with the risk of having DS child (P = 0.0001). CONCLUSION: Homocysteine acted as an independent risk factor in the present study and was not associated with folate metabolizing gene variants. Wolters Kluwer - Medknow 2022-03-04 /pmc/articles/PMC9791858/ /pubmed/36578639 http://dx.doi.org/10.4103/tcmj.tcmj_258_21 Text en Copyright: © 2022 Tzu Chi Medical Journal https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
spellingShingle | Original Article Kaur, Amandeep Kaur, Anupam Role of folate metabolizing genes and homocysteine in mothers of Down syndrome children |
title | Role of folate metabolizing genes and homocysteine in mothers of Down syndrome children |
title_full | Role of folate metabolizing genes and homocysteine in mothers of Down syndrome children |
title_fullStr | Role of folate metabolizing genes and homocysteine in mothers of Down syndrome children |
title_full_unstemmed | Role of folate metabolizing genes and homocysteine in mothers of Down syndrome children |
title_short | Role of folate metabolizing genes and homocysteine in mothers of Down syndrome children |
title_sort | role of folate metabolizing genes and homocysteine in mothers of down syndrome children |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9791858/ https://www.ncbi.nlm.nih.gov/pubmed/36578639 http://dx.doi.org/10.4103/tcmj.tcmj_258_21 |
work_keys_str_mv | AT kauramandeep roleoffolatemetabolizinggenesandhomocysteineinmothersofdownsyndromechildren AT kauranupam roleoffolatemetabolizinggenesandhomocysteineinmothersofdownsyndromechildren |