Developing DNA methylation-based diagnostic biomarkers

Journal of Genetics and Genomics = Yi Chuan Xue Bao
Hyerim KimPeng Jin

Abstract

An emerging paradigm shift for disease diagnosis is to rely on molecular characterization beyond traditional clinical and symptom-based examinations. Although genetic alterations and transcription signature were first introduced as potential biomarkers, clinical implementations of these markers are limited due to low reproducibility and accuracy. Instead, epigenetic changes are considered as an alternative approach to disease diagnosis. Complex epigenetic regulation is required for normal biological functions and it has been shown that distinctive epigenetic disruptions could contribute to disease pathogenesis. Disease-specific epigenetic changes, especially DNA methylation, have been observed, suggesting its potential as disease biomarkers for diagnosis. In addition to specificity, the feasibility of detecting disease-associated methylation marks in the biological specimens collected noninvasively, such as blood samples, has driven the clinical studies to validate disease-specific DNA methylation changes as a diagnostic biomarker. Here, we highlight the advantages of DNA methylation signature for diagnosis in different diseases and discuss the statistical and technical challenges to be overcome before clinical implementation.

References

Mar 1, 1992·Proceedings of the National Academy of Sciences of the United States of America·M FrommerC L Paul
Oct 8, 1987·The New England Journal of Medicine·T A StameyE Redwine
Nov 22, 1994·Proceedings of the National Academy of Sciences of the United States of America·W H LeeW G Nelson
Mar 21, 1998·Human Molecular Genetics·J A Yoder, T H Bestor
Feb 22, 2000·Radiographics : a Review Publication of the Radiological Society of North America, Inc·J J ErasmusJ E Connolly
Aug 11, 2001·Science·T Jenuwein, C D Allis
Sep 13, 2001·Proceedings of the National Academy of Sciences of the United States of America·T SørlieA L Børresen-Dale
Sep 3, 2004·Nature Reviews. Cancer·Steven A Belinsky
Nov 9, 2004·Clinica Chimica Acta; International Journal of Clinical Chemistry·Sergio BernardiniGiorgio Federici
Sep 2, 2005·Nature Reviews. Genetics·Keith D Robertson
Oct 7, 2005·Neoplasia : an International Journal for Oncology Research·Matthias P A EbertCatherine Lofton-Day
Nov 17, 2005·Annals of Neurology·Tero Ylisaukko-ojaLeena Peltonen
Jun 9, 2006·Brain Research Reviews·Schahram Akbarian, Hsien-Sung Huang
Nov 30, 2006·Journal of Applied Genetics·Jaroslaw Paluszczak, Wanda Baer-Dubowska
Mar 17, 2007·Nature Reviews. Genetics·R Keith Slotkin, Robert Martienssen
Dec 20, 2007·Clinical Chemistry·Catherine Lofton-DayAndrew Sledziewski
Feb 8, 2008·BioTechniques·Filipe V JacintoManel Esteller
Mar 14, 2008·The New England Journal of Medicine·Manel Esteller
Mar 20, 2009·The New England Journal of Medicine·Gerald L AndrioleUNKNOWN PLCO Project Team
Mar 20, 2009·The New England Journal of Medicine·Fritz H SchröderUNKNOWN ERSPC Investigators
Feb 26, 2010·Cold Spring Harbor Perspectives in Biology·Magali OlivierPierre Hainaut
Mar 5, 2010·CA: a Cancer Journal for Clinicians·Andrew M D WolfUNKNOWN American Cancer Society Prostate Cancer Advisory Committee
May 7, 2010·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Ahmad JowaedUllrich Wüllner
Jul 16, 2010·Molecular Oncology·Jovana JovanovicVessela Kristensen
Aug 6, 2010·The American Journal of Psychiatry·Paul LichtensteinHenrik Anckarsäter
Oct 15, 2010·Nature Biotechnology·Bradley E BernsteinJames A Thomson
Mar 8, 2011·Cell·Douglas Hanahan, Robert A Weinberg
May 27, 2011·Genome Research·Agustin F FernandezManel Esteller
Oct 21, 2011·Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer·Yong-Jae KwonJong Ho Park
Dec 14, 2011·The Prostate·Leander Van NesteWim Van Criekinge
Dec 22, 2011·International Journal of Epidemiology·C H Waddington
Apr 19, 2012·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Shuguang LengSteven A Belinsky
May 2, 2012·Cancer Letters·Triantafillos LiloglouMichael P A Davies
Jun 23, 2012·Nature·Shantanu BanerjiMatthew Meyerson
Sep 5, 2012·Nature Reviews. Genetics·Holger Heyn, Manel Esteller
Sep 6, 2012·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·Dennis R Grayson, Alessandro Guidotti
Sep 8, 2012·Advances in Experimental Medicine and Biology·Bilian Jin, Keith D Robertson

❮ Previous
Next ❯

Citations

Jul 11, 2019·Journal of Computational Biology : a Journal of Computational Molecular Cell Biology·Xi JiaJinsong Hu
Aug 13, 2020·CNS Neuroscience & Therapeutics·Aleksandra Majchrzak-CelińskaAnna-Maria Barciszewska
Jul 19, 2018·World Journal of Gastroenterology : WJG·Tasuku Matsuoka, Masakazu Yashiro
Dec 28, 2018·NPJ Precision Oncology·Erin R BonnerJavad Nazarian
Sep 29, 2019·International Journal of Molecular Sciences·Wolfgang A Schulz, Karina D Sørensen
Nov 13, 2020·Frontiers in Cell and Developmental Biology·Laura J SmythAmy Jayne McKnight
Jan 13, 2021·Journal of Clinical Pathology·Olga Taryma-LesniakTomasz Kazimierz Wojdacz
Feb 16, 2021·Biomedicine & Pharmacotherapy = Biomédecine & Pharmacothérapie·Sumra KomalSheng-Na Han
Apr 17, 2021·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Yulong LiXiaojun Yang

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
Leandro Cerchietti, Ari Melnick
Expert Review of Molecular Diagnostics
Victor V Levenson
© 2022 Meta ULC. All rights reserved