The neuropathological investigation of the brain in a monkey model of autism spectrum disorder with ABCA13 deletion. Issue 71 (December 2018)

• Record Type: Journal Article
• Authors: Iritani, Shuji; Torii, Youta; Habuchi, Chikako; Sekiguchi, Hirotaka; Fujishiro, Hiroshige; Yoshida, Mari; Go, Yasuhiro; Iriki, Astushi; Isoda, Masaki; Ozaki, Norio
• Is Part Of: International journal of developmental neuroscience. Issue 71(2018:Dec.)
• Page Start: 130
• Page End: 139
• Publication Date: 2018-12
• Subjects: ABC ATP-binding cassette -- ASD Autism Spectrum Disorder -- CaBp28 calbindin 28KD -- GWS genome-wide association study -- 5HT2c serotonin 2C receptor -- GABA gamma aminobutyric acid -- HE hematoxylin Eosin -- KB Klüver-Barrera -- NPY NeuropeptideY -- PV parvalbumin -- TH tyrosine hydroxylase; ABCA13 -- Macaque -- Autism -- Neuropathology -- Neurotransmitter; Developmental neurobiology -- Periodicals; Neurology -- Periodicals; Neurologie du développement -- Périodiques; Developmental neurobiology; Periodicals; 612.8
• DOI: 10.1016/j.ijdevneu.2018.09.002
• Languages: English
• ISSNs: 0736-5748

Abstract

Highlights: The monkey with ABCA13 deletion might be a novel model of autism. Neuropathological findings in this model animal revealed a malformation of the neuronal network. ABCA13 deficit might induce an impairment of neuronal maturation in the CNS. ABCA13 deficit might cause the symptoms of autism. Abstract: The precise biological etiology of autism spectrum disorder (ASD) remains unknown. In this study, we investigated the neuropathology of a monkey model of autism Human ABCA13 is the largest ABC transporter protein, with a length of 5058 amino acids and a predicted molecular weight of >450 kDa. However, the function of this protein remains to be elucidated. This protein is thought to be associated with major psychiatric disease. Using this monkey model of autism with an ABCA13 deletion and a mutation of 5HT2c, we neuropathologically investigated the changes in the neuronal formation in the frontal cortex. As a result, the neuronal formation in the cortex was found to be disorganized with regard to the neuronal size and laminal distribution in the ABCA13 deletion monkey. The catecholaminergic and GABAergic neuronal systems, serotoninergic neuronal formation (5HT2c) were also found to be impaired by an immunohistochemical evaluation. This study suggested that ABCA13 deficit induces the impairment of neuronal maturation or migration, and the function of the neuronal network. This protein might thus play a role in the neurodevelopmental function of the central nervous system and the dysfunction of this protein may be a pathophysiological cause of mental disorders including autism.