Genetic and Molecular Tools for the Clinical Diagnosis of Down Syndrome DOI
Mónica Paulina Manzano Vela, Dennis Renato Manzano Vela, Ana Carola Flores Mancheno

et al.

Salud Ciencia y Tecnología, Journal Year: 2024, Volume and Issue: 5, P. 1027 - 1027

Published: Dec. 8, 2024

Introduction: Down Syndrome (DS) is a genetic disorder caused by trisomy of chromosome 21, resulting in intellectual disability and an increased risk congenital malformations. Advances molecular diagnostics have improved the accuracy speed DS diagnosis, including next-generation sequencing (NGS) whole exome (WES).Methods: A systematic narrative review was applied to analyze most recent tools diagnosis as well clinical conceptualization disease. The included sources from last five years, extracted databases such PubMed, Scopus, Web Science. After critical analysis, 40 articles were selected initial total 72 primary sources.Results: NGS WES technologies shown diagnostic sensitivity greater than 99% for DS, with false-positive rates below 0.5%. In prenatal non-invasive (NIPD) using cell-free fetal DNA (cffDNA) maternal plasma has achieved detection above 98%, reducing need invasive methods amniocentesis. Postnatally, techniques real-time PCR (qPCR) comparative genomic hybridization arrays (CGH-array) reduced times less hours.Conclusions: Genetic tools, especially NGS, WES, NIPD, revolutionized offering precision while minimizing risks. Future research should focus on validating these widespread use, low-risk populations, exploring potential detect comorbidities associated DS.

Language: Английский

Mitochondrial Imbalance in Down Syndrome: A Driver of Accelerated Brain Aging? DOI Creative Commons

Xinxin Zuo

Aging and Disease, Journal Year: 2025, Volume and Issue: unknown, P. 0 - 0

Published: Jan. 1, 2025

Down syndrome (DS), caused by trisomy of chromosome 21 (HSA21), is a complex condition associated with neurodevelopmental impairments and accelerated brain aging, often culminating in early-onset Alzheimer's disease (AD). Central to this aging mitochondrial imbalance, characterized disrupted energy metabolism, increased oxidative stress, impaired dynamics, defective quality control mechanisms like mitophagy. These abnormalities exacerbate neuronal vulnerability, driving cognitive decline neurodegeneration. This review examines the genetic biochemical underpinnings dysfunction DS, focus on role HSA21-encoded genes. We also highlight how dysfunction, amplified stress HSA21 gene dosage effects, converges cellular senescence neuroinflammation accelerate Alzheimer-like pathology DS. Finally, we discuss emerging therapeutic strategies targeting pathways, which hold promise for mitigating neurodegenerative phenotypes improving outcomes

Language: Английский

Citations

0
Genetic and Molecular Tools for the Clinical Diagnosis of Down Syndrome DOI
Mónica Paulina Manzano Vela, Dennis Renato Manzano Vela, Ana Carola Flores Mancheno

et al.

Salud Ciencia y Tecnología, Journal Year: 2024, Volume and Issue: 5, P. 1027 - 1027

Published: Dec. 8, 2024

Introduction: Down Syndrome (DS) is a genetic disorder caused by trisomy of chromosome 21, resulting in intellectual disability and an increased risk congenital malformations. Advances molecular diagnostics have improved the accuracy speed DS diagnosis, including next-generation sequencing (NGS) whole exome (WES).Methods: A systematic narrative review was applied to analyze most recent tools diagnosis as well clinical conceptualization disease. The included sources from last five years, extracted databases such PubMed, Scopus, Web Science. After critical analysis, 40 articles were selected initial total 72 primary sources.Results: NGS WES technologies shown diagnostic sensitivity greater than 99% for DS, with false-positive rates below 0.5%. In prenatal non-invasive (NIPD) using cell-free fetal DNA (cffDNA) maternal plasma has achieved detection above 98%, reducing need invasive methods amniocentesis. Postnatally, techniques real-time PCR (qPCR) comparative genomic hybridization arrays (CGH-array) reduced times less hours.Conclusions: Genetic tools, especially NGS, WES, NIPD, revolutionized offering precision while minimizing risks. Future research should focus on validating these widespread use, low-risk populations, exploring potential detect comorbidities associated DS.

Language: Английский

Citations

0