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

Autor: Roza Lagoudaki, Nikolaos Grigoriadis, Karen B. Avraham, Ofer Yizhar-Barnea, Illana Gozes, Olga Touloumi, Gal Hacohen-Kleiman
Rok vydání: 2018
Předmět:
0301 basic medicine
Male
medicine.medical_specialty
Neurology
Hearing loss
Autism Spectrum Disorder
Nerve Tissue Proteins
behavioral disciplines and activities
Biochemistry
Short stature
Choline O-Acetyltransferase
03 medical and health sciences
Cellular and Molecular Neuroscience
Mice
0302 clinical medicine
Neurodevelopmental disorder
mental disorders
Hair Cells
Auditory
otorhinolaryngologic diseases
medicine
Evoked Potentials
Auditory
Brain Stem
Animals
Hearing Loss
Auditory Cortex
Homeodomain Proteins
business.industry
Glutamate Decarboxylase
General Medicine
medicine.disease
Disease Models
Animal
030104 developmental biology
Auditory brainstem response
Autism spectrum disorder
Mutation
Autism
Female
medicine.symptom
Haploinsufficiency
business
Neuroscience
030217 neurology & neurosurgery
Zdroj: Neurochemical research. 44(6)
ISSN: 1573-6903
Popis: 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.
Databáze: OpenAIRE
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