RGD Reference Report - SLC25A12 expression is associated with neurite outgrowth and is upregulated in the prefrontal cortex of autistic subjects. - Rat Genome Database

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SLC25A12 expression is associated with neurite outgrowth and is upregulated in the prefrontal cortex of autistic subjects.

Authors: Lepagnol-Bestel, A-M  Maussion, G  Boda, B  Cardona, A  Iwayama, Y  Delezoide, A-L  Moalic, J-M  Muller, D  Dean, B  Yoshikawa, T  Gorwood, P  Buxbaum, J D  Ramoz, N  Simonneau, M 
Citation: Lepagnol-Bestel AM, etal., Mol Psychiatry. 2008 Apr;13(4):385-97. doi: 10.1038/sj.mp.4002120. Epub 2008 Jan 8.
RGD ID: 13628738
Pubmed: PMID:18180767   (View Abstract at PubMed)
DOI: DOI:10.1038/sj.mp.4002120   (Journal Full-text)

Autism is a neurodevelopmental disorder with a strong genetic component, probably involving several genes. Genome screens have provided evidence of linkage to chromosome 2q31-q33, which includes the SLC25A12 gene. Association between autism and single-nucleotide polymorphisms in SLC25A12 has been reported in various studies. SLC25A12 encodes the mitochondrial aspartate/glutamate carrier functionally important in neurons with high-metabolic activity. Neuropathological findings and functional abnormalities in autism have been reported for Brodmann's area (BA) 46 and the cerebellum. We found that SLC25A12 was expressed more strongly in the post-mortem brain tissues of autistic subjects than in those of controls, in the BA46 prefrontal cortex but not in cerebellar granule cells. SLC25A12 expression was not modified in brain subregions of bipolar and schizophrenic patients. SLC25A12 was expressed in developing human neuronal tissues, including neocortical regions containing excitatory neurons and neocortical progenitors and the ganglionic eminences that generate neocortical inhibitory interneurons. At mid-gestation, when gyri and sulci start to develop, SLC25A12 molecular gradients were identified in the lateral prefrontal and ventral temporal cortex. These fetal structures generate regions with abnormal activity in autism, including the dorsolateral prefrontal cortex (BA46), the pars opercularis of the inferior frontal cortex and the fusiform gyrus. SLC25A12 overexpression or silencing in mouse embryonic cortical neurons also modified dendrite length and the mobility of dendritic mitochondria. Our findings suggest that SLC25A12 overexpression may be involved in the pathophysiology of autism, modifying neuronal networks in specific subregions, such as the dorsolateral prefrontal cortex and fusiform gyrus, at both pre- and postnatal stages.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
autism spectrum disorder  IEP 13628738mRNA:increased expression:prefrontal cortexRGD 
autism spectrum disorder  ISOSLC25A12 (Homo sapiens)13628738; 13628738mRNA:increased expression:prefrontal cortexRGD 

Objects Annotated

Genes (Rattus norvegicus)
Slc25a12  (solute carrier family 25 member 12)

Genes (Mus musculus)
Slc25a12  (solute carrier family 25 (mitochondrial carrier, Aralar), member 12)

Genes (Homo sapiens)
SLC25A12  (solute carrier family 25 member 12)


Additional Information