Pitt-Hopkins Mouse Model has Altered Particular Gastrointestinal Transits In Vivo

Autism Research : Official Journal of the International Society for Autism Research
Vladimir GrubišićVladimir Parpura

Abstract

Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder, classified as an autism spectrum disorder that is caused by the haploinsufficiency of Transcription Factor 4 (TCF4). The most common non-neurological symptoms in PTHS patients are gastrointestinal (GI) disturbances, mainly gastroesophageal reflux and severe constipation (in about 30 and 75% of PTHS patients, respectively). We hypothesized that the recently recognized mouse model of PTHS will exhibit problems with their gut function. We conducted series of in vivo tests on 15- to 19- week old male mice, heterozygous for the TCF4 functional deletion, mimicking the TCF4 haploinsufficiency in PTHS patients, and their wild type littermates. Data collection and initial analysis were performed blindly, that is, the genotyping key was received after the mean values were calculated for each individual animal, and then mean/median of each group was subsequently calculated. Body weight, fecal pellet output, and fluid content were similar between the groups, indicating normal gross growth of PTHS mice and their overall physiological GI motility and intestinal secretion/absorption. There were no significant differences in gut length and gross appearance pointing out that PTHS mi...Continue Reading

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Citations

Dec 23, 2015·Cellular and Molecular Gastroenterology and Hepatology·Jonathon L McClainBrian D Gulbransen
Aug 9, 2015·American Journal of Clinical Dermatology·Lucia BilleciSebastiano Gangemi
Jul 21, 2016·Nature Reviews. Gastroenterology & Hepatology·Meenakshi Rao, Michael D Gershon
Aug 30, 2016·Cell Reports·Andrew J KennedyJ David Sweatt
Jan 11, 2018·Journal of Child Neurology·Kimberly GoodspeedSailaja Golla
Nov 1, 2018·Annual Review of Physiology·Sabine SchneiderRobert O Heuckeroth
Jan 25, 2019·Clinical Genetics·Marcella ZollinoRaoul C Hennekam
Mar 3, 2017·Case Reports in Pediatrics·Alessandro AquinoStefano Uberti
Feb 9, 2017·Glia·Vladimir Grubišić, Vladimir Parpura
Mar 1, 2017·Current Genetic Medicine Reports·Matthew D Rannals, Brady J Maher

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