Autism spectrum disorder: prospects for treatment using gene therapy
File(s)
Published version
Author(s)
Benger, Matthew
Kinali, Maria
Mazarakis, Nicholas
Type
Journal Article
Abstract
Autism spectrum disorder (ASD) is characterised by the concomitant occurrence of impaired social interaction; restricted, perseverative and stereotypical behaviour; and abnormal communication skills. Recent epidemiological studies have reported a dramatic increase in the prevalence of ASD with as many as 1 in every 59 children being diagnosed with ASD. The fact that ASD appears to be principally genetically driven, and may be reversible postnatally, has raised the exciting possibility of using gene therapy as a disease-modifying treatment. Such therapies have already started to seriously impact on human disease and particularly monogenic disorders (e.g. metachromatic leukodystrophy, SMA type 1). In regard to ASD, technical advances in both our capacity to model the disorder in animals and also our ability to deliver genes to the central nervous system (CNS) have led to the first preclinical studies in monogenic ASD, involving both gene replacement and silencing. Furthermore, our increasing awareness and understanding of common dysregulated pathways in ASD have broadened gene therapy’s potential scope to include various polygenic ASDs. As this review highlights, despite a number of outstanding challenges, gene therapy has excellent potential to address cognitive dysfunction in ASD.
Date Issued
2018-06-20
Date Acceptance
2018-06-07
Citation
Molecular Autism, 2018, 9
ISSN
2040-2392
Publisher
BioMed Central
Journal / Book Title
Molecular Autism
Volume
9
Copyright Statement
© The Author(s). 2018. This article is distributed under the terms of the Creative Commons Attribution 4.0
International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to
the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver
(http://creativecommons.org/publicdomain/zero/1.0/
) applies to the data made available in this article, unless otherwise stated.
International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to
the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver
(http://creativecommons.org/publicdomain/zero/1.0/
) applies to the data made available in this article, unless otherwise stated.
Subjects
Science & Technology
Life Sciences & Biomedicine
Genetics & Heredity
Neurosciences
Neurosciences & Neurology
Autistic spectrum disorder
Synaptic dysfunction
ASD models
Gene therapy
Viral vector
FRAGILE-X-SYNDROME
DE-NOVO MUTATIONS
SEVERE MENTAL-RETARDATION
SPINAL MUSCULAR-ATROPHY
CENTRAL-NERVOUS-SYSTEM
RETT-SYNDROME
TUBEROUS-SCLEROSIS
MOUSE MODEL
ANGELMAN SYNDROME
ANTISENSE OLIGONUCLEOTIDES
Publication Status
Published
Article Number
ARTN 39