Review article

https://doi.org/10.21860/medflum2023_306343

Genetic Factors in the Etiology of Congenital Heart Defects in Down syndrome

Dijana Majstorović orcid.org/0000-0002-2933-7497 ; Sveučilište Jurja Dobrile u Puli, Medicinski fakultet, Pula, Hrvatska
Anita Barišić orcid.org/0000-0002-5403-3129 ; Sveučilište u Rijeci, Medicinski fakultet, Zavod za medicinsku biologiju i genetiku, Rijeka, Hrvatska
Jadranka Vraneković orcid.org/0000-0001-6365-5686 ; Sveučilište u Rijeci, Medicinski fakultet, Zavod za medicinsku biologiju i genetiku, Rijeka, Hrvatska

Abstract

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.

Keywords

DNA Methylation; Down Syndrome; Folic Acid; Heart Defects, Congenital; Homocysteine; Polymorphism, Single Nucleotide

Hrčak ID:

306343

URI

https://hrcak.srce.hr/306343

Publication date:

1.9.2023.

Article data in other languages: croatian

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