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Atypical Auditory Brainstem Response and Protein Expression Aberrations Related to ASD and Hearing Loss in the Adnp Haploinsufficient Mouse Brain.

TitleAtypical Auditory Brainstem Response and Protein Expression Aberrations Related to ASD and Hearing Loss in the Adnp Haploinsufficient Mouse Brain.
Publication TypeJournal Article
Year of Publication2019
AuthorsHacohen-Kleiman, G., Yizhar-Barnea O., Touloumi O., Lagoudaki R., Avraham K. B., Grigoriadis N., & Gozes I.
JournalNeurochem Res
Volume44
Issue6
Pagination1494-1507
Date Published2019 Jun
ISSN1573-6903
KeywordsAnimals, Auditory Cortex, Autism Spectrum Disorder, Choline O-Acetyltransferase, Disease Models, Animal, Evoked Potentials, Auditory, Brain Stem, Female, Glutamate Decarboxylase, Hair Cells, Auditory, Hearing Loss, Homeodomain Proteins, Male, Mice, Mutation, Nerve Tissue Proteins
Abstract

Autism is a wide spread neurodevelopmental disorder with growing morbidity rates, affecting more boys than girls worldwide. Activity-dependent neuroprotective protein (ADNP) was recently recognized as a leading gene accounted for 0.17% of autism spectrum disorder (ASD) cases globally. Respectively, mutations in the human ADNP gene (ADNP syndrome), cause multi-system body dysfunctions with apparent ASD-related traits, commencing as early as childhood. The Adnp haploinsufficient (Adnp) mouse model was researched before in relations to Alzheimer's disease and autism. Adnp mice suffer from deficient social memory, vocal and motor impediments, irregular tooth eruption and short stature, all of which corresponds with reported phenotypes in patients with the ADNP syndrome. Recently, a more elaborated description of the ADNP syndrome was published, presenting impediments such as hearing disabilities in > 10% of the studied children. Irregular auditory brainstem response (ABR) has been connected to ASD-related cases and has been suggested as a potential hallmark for autism, allowing diagnosis of ASD risk and early intervention. Herein, we present detriment hearing in the Adnp mice with atypical ABR and significant protein expression irregularities that coincides with ASD and hearing loss studies in the brain.

DOI10.1007/s11064-019-02723-6
Alternate JournalNeurochem Res
PubMed ID30659505
Grant List1424/14 / / Israel Science Foundation /
Autisyn / / ERA-NET Neuron /
2016746 / / United States-Israel Binational Science Foundation /
AMN / / AMN FOUNDATION /
Eshkol Fellowship / / Ministry of Science and Technology, Israel (IL) /

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