Cited by 333Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersNeurotransmitter Receptor Influence on Behavior

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Autism gene variant causes hyperserotonemia, serotonin receptor hypersensitivity, social impairment and repetitive behavior

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Veenstra-VanderWeele, Jeremy, Muller, Christopher L., Iwamoto, Hideki, Sauer, Jennifer E., Owens, W. Anthony, Shah, Charisma R., Cohen, Jordan, Mannangatti, Padmanabhan, Jessen, Tammy, Thompson, Brent J., Ye, Ran, Kerr, Travis M., Carneiro, Ana M., Crawley, Jacqueline N., Sanders-Bush, Elaine, McMahon, Douglas G., Ramamoorthy, Sammanda, Daws, Lynette C., Sutcliffe, James S., Blakely, Randy D.·2012·Proceedings of the National Academy of Sciences

DOI 10.1073/pnas.1112345109PMC PMC3325657

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Abstract

Fifty years ago, increased whole-blood serotonin levels, or hyperserotonemia, first linked disrupted 5-HT homeostasis to Autism Spectrum Disorders (ASDs). The 5-HT transporter (SERT) gene ( SLC6A4 ) has been associated with whole blood 5-HT levels and ASD susceptibility. Previously, we identified multiple gain-of-function SERT coding variants in children with ASD. Here we establish that transgenic mice expressing the most common of these variants, SERT Ala56, exhibit elevated, p38 MAPK-dependent transporter phosphorylation, enhanced 5-HT clearance rates and hyperserotonemia. These effects are accompanied by altered basal firing of raphe 5-HT neurons, as well as 5HT 1A and 5HT 2A receptor hypersensitivity. Strikingly, SERT Ala56 mice display alterations in social function, communication, and repetitive behavior. Our efforts provide strong support for the hypothesis that altered 5-HT homeostasis can impact risk for ASD traits and provide a model with construct and face validity that can support further analysis of ASD mechanisms and potentially novel treatments.

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Authors: Veenstra-VanderWeele, J., Muller, C. L., Iwamoto, H., Sauer, J. E., Owens, W. A., Shah, C. R., Cohen, J., Mannangatti, P., Jessen, T., Thompson, B. J., Ye, R., Kerr, T. M., Carneiro, A. M., Crawley, J. N., Sanders-Bush, E., McMahon, D. G., Ramamoorthy, S., Daws, L. C., Sutcliffe, J. S., & Blakely, R. D.
Affiliations: Vanderbilt University (US)
The University of Texas at San Antonio Health Science Center (US)
National Institutes of Health (US)
Departments of aPsychiatry,
ORCID: Veenstra-VanderWeele, Jeremy
Cohen, Jordan
Mannangatti, Padmanabhan
Jessen, Tammy
Thompson, Brent J.
Carneiro, Ana M.
Crawley, Jacqueline N.
McMahon, Douglas G.
Ramamoorthy, Sammanda
Daws, Lynette C.
Sutcliffe, James S.
Blakely, Randy D.
Venue: Proceedings of the National Academy of Sciences
Publisher: National Academy of Sciences
Published: 2012-03-19
Volume: 109
Issue: 14
Pages: 5469-5474
ISSN: 0027-8424 (ISSN-L)
1091-6490
DOI: 10.1073/pnas.1112345109
PMC: PMC3325657
OpenAlex: W2104220482
Cited by: 333
References: 76
Citations by year: 2026: 11 · 2025: 9 · 2024: 18 · 2023: 17 · 2022: 21 · 2021: 26 · 2020: 20 · 2019: 25 · 2018: 23 · 2017: 27 · 2016: 33 · 2015: 23 · 2014: 29 · 2013: 33 · 2012: 18
FWCI: 16.85
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: Proceedings of the National Academy of Sciences (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: Autism Speaks (AS2429)
Vanderbilt University (HD15052)
Vanderbilt Institute for Clinical and Translational Research (RR024975)
H. Lundbeck A/S
National Institutes of Health (HD-15052, RR024975)
Vanderbilt Kennedy Center, Vanderbilt University Medical Center
National Institute of Mental Health (R01MH094527, K08MH081066, MH081066, MH078098, R01MH062612, MH094604, MH-62612, R01MH094604, R03MH078098)
National Institute on Drug Abuse (DA-07390, R01DA007390)
National Center for Research Resources (RR024975, KL2RR024977, TL1RR024978, UL1RR024975)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (P30HD015052, HD 15052, HD065278, R01HD065278)
Topics: Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neurotransmitter Receptor Influence on Behavior
Keywords: autism spectrum disorder, hyperserotonemia, serotonin transporter, gain-of-function mutations, p38 MAPK, serotonin clearance, raphe neurons, 5-HT1A receptor, 5-HT2A receptor, receptor hypersensitivity, social dysfunction, repetitive behavior, transgenic mouse model
MeSH terms: Animals, Autistic Disorder, Disease Models, Animal, Homeostasis, Receptors, Serotonin, Serotonin, Social Behavior, Stereotyped Behavior, Mice

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Autism gene variant causes hyperserotonemia, serotonin receptor hypersensitivity, social impairment and repetitive behavior

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