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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Single point mutation on the gene encoding dysbindin results in recognition deficits.
E H Chang1,2,3,4, K Fernando1,2, L W E Yeung1,2
1Center for Psychiatric Neuroscience, The Feinstein Institute for Medical Research, Northwell Health, Manhasset, New York.
Genes, Brain, and Behavior
|December 12, 2017
Summary
The dystrobrevin-binding protein 1 (DTNBP1) gene mutation in salt and pepper mice reduced dysbindin protein, causing selective cognitive deficits in novel object and social recognition. These findings highlight DTNBP1
Area of Science:
- Neuroscience
- Genetics
- Psychiatry
Background:
- The DTNBP1 gene is implicated in schizophrenia risk and cognitive function.
- Dysbindin protein, encoded by DTNBP1, is reduced in schizophrenia patients' brains.
- Previous research primarily used sandy (sdy) mice lacking dysbindin.
Purpose of the Study:
- To investigate the cognitive effects of reduced, but not absent, dysbindin expression.
- To characterize the 'salt and pepper' (spp) mouse model with a Dtnbp1 point mutation.
Main Methods:
- Western blot analysis to quantify dysbindin and SNAP-25 protein levels in spp mutants.
- Behavioral testing of spp mutants across various cognitive domains (locomotion, anxiety, memory, recognition).
Main Results:
- Homozygous spp mutants (spp -/-) showed reduced dysbindin and SNAP-25 in the prefrontal cortex.
- spp -/- mice exhibited selective deficits in novel object and social novelty recognition tasks.
- No significant behavioral differences were observed in locomotion, anxiety, or spatial/working memory.
Conclusions:
- Reduced prefrontal cortex dysbindin and SNAP-25 in spp -/- mice are linked to specific recognition memory impairments.
- The spp mouse model offers a valuable tool for studying cognitive deficits associated with dysbindin alterations.
- DTNBP1 variations may specifically impact human recognition memory, warranting further investigation.
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