The genetics of cognitive epigenetics

Tjitske Kleefstra; Annette Schenck; Jamie M Kramer; Hans van Bokhoven

doi:10.1016/j.neuropharm.2013.12.025

The genetics of cognitive epigenetics

Neuropharmacology. 2014 May:80:83-94. doi: 10.1016/j.neuropharm.2013.12.025. Epub 2014 Jan 13.

Authors

Tjitske Kleefstra¹, Annette Schenck¹, Jamie M Kramer¹, Hans van Bokhoven²

Affiliations

¹ Radboud University Medical Center, Department of Human Genetics, Nijmegen Center for Molecular Life Sciences (NCMLS), Nijmegen, The Netherlands.
² Radboud University Medical Center, Department of Human Genetics, Nijmegen Center for Molecular Life Sciences (NCMLS), Nijmegen, The Netherlands; Radboud University Medical Center, Department of Cognitive Neurosciences, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands. Electronic address: Hans.vanbokhoven@radboudumc.nl.

PMID: 24434855
DOI: 10.1016/j.neuropharm.2013.12.025

Abstract

Cognitive disorders (CDs) are a heterogeneous group of disorders for which the genetic foundations are rapidly being uncovered. The large number of CD-associated gene mutations presents an opportunity to identify common mechanisms of disease as well as molecular processes that are of key importance to human cognition. Given the disproportionately high number of epigenetic genes associated with CD, epigenetic regulation of gene transcription is emerging as a process of major importance in cognition. The cognate protein products of these genes often co-operate in shared protein complexes or pathways, which is reflected in similarities between the neurodevelopmental phenotypes corresponding to these mutant genes. Here we provide an overview of the genes associated with CDs, and highlight some of the epigenetic regulatory complexes involving multiple CD genes. Such common gene networks may provide a handle for designing therapeutic interventions applicable to a number of cognitive disorders with variable genetic etiology.

Keywords: Chromatin; Cognitive disorder; Epigenetic; Genetic; Intellectual disability; Mutation.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Abnormalities, Multiple / genetics
Abnormalities, Multiple / metabolism
Abnormalities, Multiple / physiopathology
Animals
Brain / enzymology
Brain / metabolism*
Chromatin Assembly and Disassembly
Chromosome Deletion
Chromosomes, Human, Pair 9 / genetics
Chromosomes, Human, Pair 9 / metabolism
Cognition Disorders / etiology
Cognition Disorders / genetics
Cognition Disorders / metabolism*
Cognition*
Craniofacial Abnormalities / genetics
Craniofacial Abnormalities / metabolism
Craniofacial Abnormalities / physiopathology
Epigenesis, Genetic*
Face / abnormalities
Face / physiopathology
Facies
Foot Deformities, Congenital / genetics
Foot Deformities, Congenital / metabolism
Foot Deformities, Congenital / physiopathology
Gene Expression Regulation
Hand Deformities, Congenital / genetics
Hand Deformities, Congenital / metabolism
Hand Deformities, Congenital / physiopathology
Heart Defects, Congenital / genetics
Heart Defects, Congenital / metabolism
Heart Defects, Congenital / physiopathology
Humans
Hypotrichosis / genetics
Hypotrichosis / metabolism
Hypotrichosis / physiopathology
Intellectual Disability / genetics
Intellectual Disability / metabolism
Intellectual Disability / physiopathology
Micrognathism / genetics
Micrognathism / metabolism
Micrognathism / physiopathology
Models, Biological*
Mutation
Neck / abnormalities
Neck / physiopathology
Nerve Tissue Proteins / genetics
Nerve Tissue Proteins / metabolism
Neurons / enzymology
Neurons / metabolism*

Substances

Nerve Tissue Proteins

Supplementary concepts

Coffin-Siris syndrome
Kleefstra Syndrome
Nicolaides Baraitser syndrome