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Sökning: WFRF:(Hosie A. M.) > (2015-2019) > Gastrointestinal dy...

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FältnamnIndikatorerMetadata
00006532naa a2200853 4500
001oai:gup.ub.gu.se/282247
003SwePub
008240528s2019 | |||||||||||000 ||eng|
009oai:lup.lub.lu.se:74ef7859-3255-491e-8a52-5b5dc8db8285
0247 a https://gup.ub.gu.se/publication/2822472 URI
0247 a https://doi.org/10.1002/aur.21272 DOI
0247 a https://lup.lub.lu.se/record/74ef7859-3255-491e-8a52-5b5dc8db82852 URI
040 a (SwePub)gud (SwePub)lu
041 a eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Hosie, S.u RMIT University4 aut
2451 0a Gastrointestinal dysfunction in patients and mice expressing the autism-associated R451C mutation in neuroligin-3
264 c 2019-05-22
264 1b Wiley,c 2019
520 a Gastrointestinal (GI) problems constitute an important comorbidity in many patients with autism. Multiple mutations in the neuroligin family of synaptic adhesion molecules are implicated in autism, however whether they are expressed and impact GI function via changes in the enteric nervous system is unknown. We report the GI symptoms of two brothers with autism and an R451C mutation in Nlgn3 encoding the synaptic adhesion protein, neuroligin-3. We confirm the presence of an array of synaptic genes in the murine GI tract and investigate the impact of impaired synaptic protein expression in mice carrying the human neuroligin-3 R451C missense mutation (NL3(R451C)). Assessing in vivo gut dysfunction, we report faster small intestinal transit in NL3(R451C) compared to wild-type mice. Using an ex vivo colonic motility assay, we show increased sensitivity to GABA(A) receptor modulation in NL3(R451C) mice, a well-established Central Nervous System (CNS) feature associated with this mutation. We further show increased numbers of small intestine myenteric neurons in NL3(R451C) mice. Although we observed altered sensitivity to GABA(A) receptor modulators in the colon, there was no change in colonic neuronal numbers including the number of GABA-immunoreactive myenteric neurons. We further identified altered fecal microbial communities in NL3(R451C) mice. These results suggest that the R451C mutation affects small intestinal and colonic function and alter neuronal numbers in the small intestine as well as impact fecal microbes. Our findings identify a novel GI phenotype associated with the R451C mutation and highlight NL3(R451C) mice as a useful preclinical model of GI dysfunction in autism. Autism Res 2019, 12: 1043-1056. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary People with autism commonly experience gastrointestinal problems, however the cause is unknown. We report gut symptoms in patients with the autism-associated R451C mutation encoding the neuroligin-3 protein. We show that many of the genes implicated in autism are expressed in mouse gut. The neuroligin-3 R451C mutation alters the enteric nervous system, causes gastrointestinal dysfunction, and disrupts gut microbe populations in mice. Gut dysfunction in autism could be due to mutations that affect neuronal communication.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Neurovetenskaper0 (SwePub)301052 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Neurosciences0 (SwePub)301052 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
653 a autism
653 a gastrointestinal symptoms
653 a gut motility
653 a immunofluorescence
653 a mouse
653 a neuroligin-3
653 a enteric nervous-system
653 a gamma-aminobutyric acid
653 a synaptic-transmission
653 a spectrum disorder
653 a colonic motility
653 a gut-brain
653 a children
653 a neurons
653 a abnormalities
653 a microbiota
653 a Behavioral Sciences
653 a Psychology
653 a erubini e
653 a 1984
653 a british journal of pharmacology
653 a v82
653 a p93
7001 a Ellis, M.u University of Melbourne4 aut
7001 a Swaminathan, M.u University of Melbourne4 aut
7001 a Ramalhosa, F.u University of Minho4 aut
7001 a Seger, G. O.u University of Melbourne4 aut
7001 a Balasuriya, G. K.u RMIT University4 aut
7001 a Gillberg, Christopher,d 1950u University of Gothenburg,Gothenburg University,Göteborgs universitet,Gillbergcentrum,Gillberg Neuropsychiatry Centre4 aut0 (Swepub:gu)xgilch
7001 a Råstam, Maria,d 1948u University of Gothenburg,Lund University,Lunds universitet,Gothenburg University,Göteborgs universitet,Gillbergcentrum,Gillberg Neuropsychiatry Centre,Utvecklingsrelaterade störningar, affektiv sjukdom och ångestsyndrom i barn- och ungdomspsykiatri,Forskargrupper vid Lunds universitet,Disorders in clinical child and adolescent psychiatry,Lund University Research Groups4 aut0 (Swepub:lu)med-mr_
7001 a Churilov, L.u RMIT University,Florey Institute of Neuroscience and Mental Health4 aut
7001 a McKeown, S. J.u Monash University4 aut
7001 a Yalcinkaya, N.u Baylor College of Medicine,Texas Children’s Hospital4 aut
7001 a Urvil, P.u Baylor College of Medicine,Texas Children’s Hospital4 aut
7001 a Savidge, T.u Baylor College of Medicine,Texas Children’s Hospital4 aut
7001 a Bell, C. A.u La Trobe University4 aut
7001 a Bodin, O.u La Trobe University4 aut
7001 a Wood, J.u La Trobe University4 aut
7001 a Franks, A. E.u La Trobe University4 aut
7001 a Bornstein, J. C.u University of Melbourne4 aut
7001 a Hill-Yardin, E. L.u RMIT University,University of Melbourne4 aut
7102 a RMIT Universityb University of Melbourne4 org
7730 t Autism Researchd : Wileyg 12:7, s. 1043-1056q 12:7<1043-1056x 1939-3792x 1939-3806
8564 u https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/aur.2127
8564 u http://dx.doi.org/10.1002/aur.2127x freey FULLTEXT
8564 8u https://gup.ub.gu.se/publication/282247
8564 8u https://doi.org/10.1002/aur.2127
8564 8u https://lup.lub.lu.se/record/74ef7859-3255-491e-8a52-5b5dc8db8285

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