Exploring the Molecular Aetiology of Preeclampsia by Massive Parallel Sequencing of DNA

Purpose of Review: This manuscript aims to review (for the first time) studies describing NGS sequencing of preeclampsia (PE) women’s DNA. Recent Findings: Describing markers for the early detection of PE is an essential task because, although associated molecular dysfunction begins early on during pregnancy, the disease’s clinical signs usually appear late in pregnancy. Although several biochemical biomarkers have been proposed, their use in clinical environments is still limited, thereby encouraging research into PE’s genetic origin. Hundreds of genes involved in numerous implantation- and placentation-related biological processes may be coherent candidates for PE aetiology. Next-generation sequencing (NGS) offers new technical possibilities for PE studying, as it enables large genomic regions to be analysed at affordable cost. This technique has facilitated the description of genes contributing to the molecular origin of a significant amount of monogenic and complex diseases. Regarding PE, NGS of DNA has been used in familial and isolated cases, thereby enabling new genes potentially related to the phenotype to be proposed. Summary: For a better understanding of NGS, technical aspects, applications and limitations are presented initially. Thereafter, NGS studies of DNA in familial and non-familial cases are described, including pitfalls and positive findings. The information given here should enable scientists and clinicians to analyse and design new studies permitting the identification of novel clinically useful molecular PE markers. © 2020, Springer Science+Business Media, LLC, part of Springer Nature.

• Fecha de publicación: 2020
• Institución: Universidad del Rosario
• Repositorio: Repositorio EdocUR - U. Rosario
• Idioma: eng
• OAI Identifier: oai:repository.urosario.edu.co:10336/23809
• Acceso en línea: https://doi.org/10.1007/s11906-020-01039-z; https://repository.urosario.edu.co/handle/10336/23809
• Palabra clave: Dna; Acvr2a gene; Allele; Ano9 gene; Dna sequencing; Environmental factor; Gene; Gene mutation; Genetic association; Genetic code; Genetic variation; High throughput sequencing; Human; Khdc3l gene; Maternal plasma; Molecular pathology; Nonhuman; Nrlp14 gene; Nrlp2 gene; Placenta development; Preeclampsia; Review; Tmtc1 gene; Tp53bp1 gene; Trim28 gene; Zfr2 gene; Genetic biomarker; Molecular medicine; Next-generation sequencing (ngs); Preeclampsia
• License: Abierto (Texto Completo)