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SHANK proteins: roles at the synapse and in autism spectrum disorder
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Journal Article
SHANK proteins: roles at the synapse and in autism spectrum disorder
2017
Overview
Key Points
SH3 and multiple ankyrin repeat domains proteins (SHANKs) are encoded by
SHANK1
,
SHANK2
and
SHANK3
genes. The three different SHANK genes can produce multiple protein isoforms that are differentially expressed according to developmental stages, cell types and brain regions.
Mutations in SHANK genes are a potential monogenic cause for autism spectrum disorder.
Neurobiological studies in animal models indicate a wide array of functions for SHANK proteins, from synaptic scaffolding to regulating spine morphology and neurotransmission.
Mutant mice carrying different
Shank1
,
Shank2
or
Shank3
mutations have some distinct and shared phenotypes at the molecular and functional level. All mutants seem to have altered molecular composition of excitatory synapses and altered neurotransmission, and often display impaired social interaction and repetitive behaviour.
Different mutations within the same SHANKgene may cause distinct synaptic and circuitry defects and thus may be responsible for the different clinical features that are seen in patients.
Despite being a neurodevelopmental disorder, some neurobiological alterations in autism spectrum disorder may be reversible in adulthood.
Adult restoration of SHANK3 levels or restoration of downstream mediators may be a useful therapeutic approach to alleviate some of the synaptic and behavioural impairments that are associated with
SHANK3
mutations.
Mutations in the genes encoding the SH3 and multiple ankyrin repeat domains protein (SHANK) family have been linked to autism spectrum disorder, driving a wave of recent studies that aimed to dissect their functional roles in the brain. Monteiro and Feng describe recent findings that have begun to shed light on the important roles of SHANK proteins at the synapse.
Several large-scale genomic studies have supported an association between cases of autism spectrum disorder and mutations in the genes SH3 and multiple ankyrin repeat domains protein 1 (
SHANK1
),
SHANK2
and
SHANK3
, which encode a family of postsynaptic scaffolding proteins that are present at glutamatergic synapses in the CNS. An evaluation of human genetic data, as well as of
in vitro
and
in vivo
animal model data, may allow us to understand how disruption of SHANK scaffolding proteins affects the structure and function of neural circuits and alters behaviour.
Publisher
Nature Publishing Group UK,Nature Publishing Group
Subject
/ 45/43
/ 64/110
/ Animal Genetics and Genomics
/ Animals
/ Autism
/ Autism Spectrum Disorder - genetics
/ Autism Spectrum Disorder - metabolism
/ Child Development Disorders, Pervasive - genetics
/ Child Development Disorders, Pervasive - metabolism
/ Humans
/ Nerve Tissue Proteins - metabolism
