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Lookup NU author(s): Professor Alan ThomasORCiD, Professor Patrick Chinnery, Professor John O'Brien
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© 2020Lewy body dementia encompasses both dementia with Lewy bodies and Parkinson's disease dementia. Although both are common causes of dementia, they remain relatively understudied. The review summarises the clinico-pathologic characteristics of Lewy Body dementia and discusses the genetic and environmental evidence contributing to the risk of developing the condition. Considering that the pathophysiology of Lewy body dementia is not yet fully understood, here we focus on the role of epigenetic mechanisms as potential key mediators of gene–environment interactions in the development of the disease. We examine available important data on genomics, epigenomics, gene expression and proteomic studies in Lewy body dementia on human post-mortem brain and peripheral tissues. Genetic variation and epigenetic modifications in key genes involved in the disorder, such as apolipoprotein E (APOE), α-synuclein (SNCA) and glucocerobrosidase (GBA), suggest a central involvement of epigenetics in DLB but conclusive evidence is scarce. This is due to limitations of existing literature, such as small sample sizes, lack of replication and lack of studies interrogating cell-type specific epigenetic modifications in the brain. Future research in the field can improve the understanding of this common but complex and rapidly progressing type of dementia and potentially open early diagnostic and effective therapeutic targets.
Author(s): Chouliaras L, Kumar GS, Thomas AJ, Lunnon K, Chinnery PF, O'Brien JT
Publication type: Review
Publication status: Published
Journal: Progress in Neurobiology
Year: 2020
Volume: 192
Print publication date: 01/09/2020
Online publication date: 12/05/2020
Acceptance date: 06/05/2020
ISSN (print): 0301-0082
ISSN (electronic): 1873-5118
Publisher: Elsevier Ltd
URL: https://doi.org/10.1016/j.pneurobio.2020.101822
DOI: 10.1016/j.pneurobio.2020.101822
PubMed id: 32407744
