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

Gal Hacohen-Kleiman, Ofer Yizhar-Barnea, Olga Touloumi, Roza Lagoudaki, Karen B. Avraham, Nikolaos Grigoriadis, Illana Gozes*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

20 Scopus citations

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.

Original languageEnglish
Pages (from-to)1494-1507
Number of pages14
JournalNeurochemical Research
Volume44
Issue number6
DOIs
StatePublished - 15 Jun 2019

Funding

FundersFunder number
AMN Foundation
European Research Area Networks
Israel Ministry of Science and Technology
US-Israel Binational Science Foundation
National Science Foundation
Canadian Friends of Tel Aviv University
United States-Israel Binational Science Foundation2016746
Israel Science Foundation1424/14
Tel Aviv University
Ministry of Science and Technology, Israel

    Keywords

    • ADNP syndrome
    • Activity-dependent neuroprotective protein ADNP
    • Adnp haploinsufficient Adnp
    • Auditory brainstem response ABR
    • Developmental delays
    • Hearing loss

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