Nishka Khimasia
Pronouns: she/her
Research Mentor(s): Bing Ye
Co-Presenter:
Research Mentor School/College/Department: Life Sciences Institute, University of Michigan / Medicine
Presentation Date: April 20
Presentation Type: Oral5
Session: Session 4 – 2:40pm – 3:30 pm
Room: Breakout Room 6
Authors: Nishka Khimasia, Bing Ye, Ty Hergenreder
Presenter: 2
Abstract
Down syndrome is a disorder that involves an extra copy of chromosome 23. This extra chromosome contains an mutant copy of a gene called Dscam[2j], which is proposed to be a source for the over inhibition of excitatory neurons found in Down syndrome individuals. This research study focuses on the role of Dscam, a trisomy gene that is upregulated in Down syndrome and involved in neuronal synapse formation. It utilizes a mouse model with three groups: a wild type with normal expression, a Ts65Dn type with Down syndrome, and a Ts65Dn, Dscam[2j] type, which has 2 active copies of Dscam, along with one inactive copy caused by the mutant allele. These three groups are then studied using immunohistochemistry by staining both inhibitory synapses and excitatory neurons on chandelier and basket cells. When both of these features are found together, inhibition of excitatory neurons is observed, a phenotype manifesting from the extra copy of Dscam found in Down syndrome mice. By staining and imaging GABAergic synapses, the research hopes to find a decrease in this over inhibition, either a return to normal level or simply less than in Down syndrome, when looking at the synapses found in 2j mice. While the results have not been finalized, if data continues to resemble what has been found until now, the study will show a decreased expression of the phenotype associated with Down syndrome in the Dscam[2j] mice. These results will show a definitive relationship between the Dscam gene and phenotypic over inhibition characteristic of Down syndrome, which directly lead to the neuronal deficits exhibited by Down syndrome individuals. The implications of this study can better understand the scientific understanding of Down syndrome and help better understand those with the disorder and the neuroatypical community as a whole.
Biomedical Sciences, Interdisciplinary
