MP Viscomi, J. Czyrska, D. Winiarczyk, MM Ziętek, S. Sampino
{"title":"BTBR T+ Itpr3tf/J小鼠品系作为研究神经发育障碍的遗传、免疫和代谢起源的模型","authors":"MP Viscomi, J. Czyrska, D. Winiarczyk, MM Ziętek, S. Sampino","doi":"10.1016/j.rasd.2024.102526","DOIUrl":null,"url":null,"abstract":"<div><div>The BTBR T<sup>+</sup> Itpr3<sup>tf</sup>/J (BTBR) mouse strain manifests a peculiar behavioral phenotype that mirrors the core symptomatology of autism spectrum disorders, including alterations in social-communicative behavioral domains, and the presence of repetitive/stereotyped behaviors. Concurrent immune and metabolic imbalances characterize the BTBR phenotype and are exacerbated by specific gene mutations, resulting in severe multi-organs imbalances that recapitulate the symptoms of human autoimmune and metabolic disorders. The present review aims to retrace and summarize state-of-the-art regarding the genetic, immune, and metabolic features of the BTBR strain and address its potential use as a valid model to study the multi-system etiology and pathogenesis of neurodevelopmental disorders.</div></div>","PeriodicalId":48255,"journal":{"name":"Research in Autism Spectrum Disorders","volume":"119 ","pages":"Article 102526"},"PeriodicalIF":2.2000,"publicationDate":"2024-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"The BTBR T+ Itpr3tf/J mouse strain as a model to study the genetic, immune, and metabolic origins of neurodevelopmental disorders\",\"authors\":\"MP Viscomi, J. Czyrska, D. Winiarczyk, MM Ziętek, S. Sampino\",\"doi\":\"10.1016/j.rasd.2024.102526\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>The BTBR T<sup>+</sup> Itpr3<sup>tf</sup>/J (BTBR) mouse strain manifests a peculiar behavioral phenotype that mirrors the core symptomatology of autism spectrum disorders, including alterations in social-communicative behavioral domains, and the presence of repetitive/stereotyped behaviors. Concurrent immune and metabolic imbalances characterize the BTBR phenotype and are exacerbated by specific gene mutations, resulting in severe multi-organs imbalances that recapitulate the symptoms of human autoimmune and metabolic disorders. The present review aims to retrace and summarize state-of-the-art regarding the genetic, immune, and metabolic features of the BTBR strain and address its potential use as a valid model to study the multi-system etiology and pathogenesis of neurodevelopmental disorders.</div></div>\",\"PeriodicalId\":48255,\"journal\":{\"name\":\"Research in Autism Spectrum Disorders\",\"volume\":\"119 \",\"pages\":\"Article 102526\"},\"PeriodicalIF\":2.2000,\"publicationDate\":\"2024-11-29\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Research in Autism Spectrum Disorders\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1750946724002010\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"EDUCATION, SPECIAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Research in Autism Spectrum Disorders","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1750946724002010","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"EDUCATION, SPECIAL","Score":null,"Total":0}
The BTBR T+ Itpr3tf/J mouse strain as a model to study the genetic, immune, and metabolic origins of neurodevelopmental disorders
The BTBR T+ Itpr3tf/J (BTBR) mouse strain manifests a peculiar behavioral phenotype that mirrors the core symptomatology of autism spectrum disorders, including alterations in social-communicative behavioral domains, and the presence of repetitive/stereotyped behaviors. Concurrent immune and metabolic imbalances characterize the BTBR phenotype and are exacerbated by specific gene mutations, resulting in severe multi-organs imbalances that recapitulate the symptoms of human autoimmune and metabolic disorders. The present review aims to retrace and summarize state-of-the-art regarding the genetic, immune, and metabolic features of the BTBR strain and address its potential use as a valid model to study the multi-system etiology and pathogenesis of neurodevelopmental disorders.
期刊介绍：
Research in Autism Spectrum Disorders (RASD) publishes high quality empirical articles and reviews that contribute to a better understanding of Autism Spectrum Disorders (ASD) at all levels of description; genetic, neurobiological, cognitive, and behavioral. The primary focus of the journal is to bridge the gap between basic research at these levels, and the practical questions and difficulties that are faced by individuals with ASD and their families, as well as carers, educators and clinicians. In addition, the journal encourages submissions on topics that remain under-researched in the field. We know shamefully little about the causes and consequences of the significant language and general intellectual impairments that characterize half of all individuals with ASD. We know even less about the challenges that women with ASD face and less still about the needs of individuals with ASD as they grow older. Medical and psychological co-morbidities and the complications they bring with them for the diagnosis and treatment of ASD represents another area of relatively little research. At RASD we are committed to promoting high-quality and rigorous research on all of these issues, and we look forward to receiving many excellent submissions.
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