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Partial changes in apoptotic pathways in hippocampus and hypothalamus of Cc2d1a heterozygous
Elif Funda Sener1,2, Halime Dana3,4, Reyhan Tahtasakal3,4
1Department of Medical Biology, Erciyes University Medical Faculty, 38039, Kayseri, Turkey. efefunda@yahoo.com.
Abstract:
Alterations in the apoptosis pathway have been linked to changes in serotonin levels seen in autistic patients. Cc2d1a is a repressor of the HTR1A gene involved in the serotonin pathway. The hippocampus and hypothalamus of Cc2d1a ± mice were analyzed for the expression of apoptosis markers (caspase 3, 8 and 9). Gender differences were observed in the expression levels of the three caspases consistent with some altered activity in the open-field assay. The number of apoptotic cells was significantly increased. We concluded that apoptotic pathways are only partially affected in the pathogenesis of the Cc2d1a heterozygous mouse model. A) Apoptosis is suppressed because the cell does not receive a death signal, or the receptor cannot activate the caspase 8 pathway despite the death signal. B) Since Caspase 8 and Caspase 3 expression is downregulated in our mouse model, the mechanism of apoptosis is not activated.
Insights
CC2D1A gene alterations impact apoptosis pathways, potentially affecting serotonin signaling in autism. Studies in Cc2d1a+/- mice revealed increased apoptotic cells, suggesting partial involvement in autism pathogenesis.
Area of Science:
- Neuroscience
- Genetics
- Cell Biology
Background:
- Alterations in apoptosis pathways are implicated in autism spectrum disorder (ASD).
- The CC2D1A gene, a repressor of the serotonin pathway gene HTR1A, is linked to ASD pathogenesis.
- Serotonin signaling is frequently altered in autistic individuals.
Purpose of the Study:
- To investigate the role of CC2D1A in apoptosis regulation within brain regions relevant to autism.
- To analyze the expression of key apoptosis markers in a Cc2d1a heterozygous mouse model.
- To explore potential gender-specific differences in apoptosis and behavior.
Main Methods:
- Analysis of apoptosis markers (caspase 3, 8, and 9) in the hippocampus and hypothalamus of Cc2d1a+/- mice.
- Behavioral assessment using the open-field assay.
- Quantification of apoptotic cells.
Main Results:
- Significant increases in the number of apoptotic cells were observed in Cc2d1a+/- mice.
- Gender differences were noted in the expression levels of caspases 3, 8, and 9.
- Altered caspase expression suggests a partial disruption of the apoptotic pathway.
Conclusions:
- Apoptotic pathways are partially affected in the Cc2d1a heterozygous mouse model relevant to autism.
- Downregulation of Caspase 8 and Caspase 3 expression indicates a potential suppression or incomplete activation of apoptosis.
- These findings contribute to understanding the complex interplay between CC2D1A, serotonin, and apoptosis in neurodevelopmental disorders.
