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The Genetics of Autism Spectrum Disorders

Kapitel i bok
Författare G. Huguet
M. Benabou
Thomas Bourgeron
Publicerad i A Time for Metabolism and Hormones. Paolo Sassone-Corsi, Yves Christen (red.)
Sidor 101-129
ISBN 978-3-319-27069-2; 978-3-319-27068-5
Förlag Springer
Publiceringsår 2016
Publicerad vid Gillbergcentrum
Sidor 101-129
Språk en
Länkar doi.org/10.1007/978-3-319-27069-2_1...
Ämnesord de-novo mutations, copy-number variation, fragile-x-syndrome, chromosomal rearrangements, translational control, social communication, molecular-mechanisms, synaptic plasticity, developmental delay, melatonin synthesis
Ämneskategorier Klinisk medicin

Sammanfattning

In the last 30 years, twin studies have indicated a strong genetic contribution to Autism Spectrum Disorders (ASD). The heritability of ASD is estimated to be 50 %, mostly captured by still unknown common variants. In approximately 10 % of patients with ASD, especially those with intellectual disability, de novo copy number or single nucleotide variants affecting clinically relevant genes for ASD can be identified. Given the function of these genes, it was hypothesized that abnormal synaptic plasticity and failure of neuronal/synaptic homeostasis could increase the risk of ASD. In parallel, abnormal levels of blood serotonin and melatonin were reported in a subset of patients with ASD. These biochemical imbalances could act as risk factors for the sleep/circadian disorders that are often observed in individuals with ASD. Here, we review the main pathways associated with ASD, with a focus on the roles of the synapse and the serotonin-NAS-melatonin pathway in the susceptibility of ASD.

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