Epigenetic Biomarkers as Diagnostic Tools for Neurodegenerative Disorders

Int J Mol Sci. 2021 Dec 21;23(1):13. doi: 10.3390/ijms23010013.

Abstract

Epigenetics is the study of heritable changes in gene expression that occur without alterations to the DNA sequence, linking the genome to its surroundings. The accumulation of epigenetic alterations over the lifespan may contribute to neurodegeneration. The aim of the present study was to identify epigenetic biomarkers for improving diagnostic efficacy in patients with neurodegenerative diseases. We analyzed global DNA methylation, chromatin remodeling/histone modifications, sirtuin (SIRT) expression and activity, and the expression of several important neurodegeneration-related genes. DNA methylation, SIRT expression and activity and neuregulin 1 (NRG1), microtubule-associated protein tau (MAPT) and brain-derived neurotrophic factor (BDNF) expression were reduced in buffy coat samples from patients with neurodegenerative disorders. Our data suggest that these epigenetic biomarkers may be useful in clinical practical for the diagnosis, surveillance, and prognosis of disease activity in patients with neurodegenerative diseases.

Keywords: Alzheimer’s disease; DNA methylation; Parkinson’s disease; diagnostic biomarker; gene expression; sirtuin.

MeSH terms

  • Adult
  • Aged
  • Brain-Derived Neurotrophic Factor / genetics
  • Case-Control Studies
  • Chromatin Assembly and Disassembly
  • DNA Methylation*
  • Down-Regulation*
  • Early Diagnosis
  • Epigenesis, Genetic
  • Female
  • Genetic Markers*
  • Histone Code
  • Humans
  • Male
  • Middle Aged
  • Neuregulin-1 / genetics
  • Neurodegenerative Diseases / diagnosis*
  • Neurodegenerative Diseases / genetics
  • Sirtuin 1 / genetics*
  • tau Proteins / genetics

Substances

  • Brain-Derived Neurotrophic Factor
  • Genetic Markers
  • MAPT protein, human
  • NRG1 protein, human
  • Neuregulin-1
  • tau Proteins
  • BDNF protein, human
  • SIRT1 protein, human
  • Sirtuin 1