Neurodevelopmental Disorders

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The page below is a sample from the LabCE course Epigenetics: Diagnostic Methods in the Clinical Laboratory. Access the complete course and earn ASCLS P.A.C.E.-approved continuing education credits by subscribing online.

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Neurodevelopmental Disorders

Alterations in epigenomic markers have been associated with neurodevelopmental disorders (NDDs). Epigenetic modifications play a crucial role in the development of the nervous system and also in the development of diseases. DNA methylation, histone modification, and non-coding RNAs regulate diverse aspects of neuronal development. For example, studies of children with NDDs have found that DNA methylation and histone modification are found to be essential for normal brain development.28 Researchers are investigating how these epigenetic mechanisms are related to the development of NDDs.
Table 1 provides a brief snapshot of epigenetics markers associated with different NDDs from studies in humans and mice. This list is not intended to be understood to the fullest, instead, it is an indicator of the epigenetic markers found to play a role in neurodevelopmental disorders.
Table 1. Epigenetic Key Players Associated with NDDs.28
DiagnosisEpigenetic Regulator
Anxiety disorderDNMT1
Autism spectrum disorderSETD2
ANKRD11, HDAC3
BAF complexes
ST7OT1-3, ST7OT1-4
SETDB1
MECP2, MDB5/6
Down syndromeMECP2
miR155, miR802, miR125b
NRON
EpilepsyDNMT1/3A
miR-17~92 cluster, miR-21, miR-155, etc.
Fragile-X syndromemiR-19b, miR-92b, miR-125b, etc.
Major depression disorderSETDB1
SchizophreniaDNMT1/3a
28. Reichard, Julia and Zimmer-Bensch, Geraldine. "The Epigenome in Neurodevelopmental Disorders." Front. Neurosci., 02 Nov 2021, Vol 15, https://doi.org/10.3389/fnins.2021.776809.