Miliarys Quiñones Barreto

Miliarys Quiñones is a rising junior majoring in Biology with emphasis in Genetics at the University of Puerto Rico at Aguadilla. She plans to pursue a Ph.D. in Genetics and work as a research scientist.

The BSRP 2020 provided me a great opportunity to conduct computational research in the biology field and create networking with my cohort and the Broad scientists.

Alzheimer’s Disease (AD) is a neurodegenerative disease that causes dementia. AD occurs when the accumulation of amyloid beta and tau proteins in the brain causes neuronal destruction. TREM2, which produces the Triggering Receptor Expressed on Myeloid Cells 2, is involved in phagocytosis, proliferation, and inflammation of microglia, the immune cells of the brain. Misregulation of TREM2 in microglia causes the accumulation of amyloid-beta plaques and can lead to AD. We aimed to find what genes are differentially expressed when TREM2 is misregulated and if they are associated with AD. We studied TREM2 wild-type expression data using the Cancer Cell Line Encyclopedia (CCLE), a public dataset with genomic information from >1200 cancer cell lines. We found differentially expressed genes that are associated with AD: AZU1, MPO, MS4A1, ELANE, PRTN3 and TYROBP. We focused on AZU1, which produces azucidin on neutrophils. STRING (Search Tool for Retrieving Interacting Proteins/Genes) analysis confirmed that there are biological interactions between AZU1 and TREM2. Up-regulation of AZU1 causes brain tissue inflammation, but the link to TREM2 needs more study on neural cell datasets. Future research should focus on how TREM2 relates to other differentially expressed genes and the association to AD.  

Project: TREM2 Gene Differential Expression in Alzheimer's Disease
Miliarys J. Quiñones-Barreto, Eric Garcia, Sofia Lombana-Rengifo, Cierra Weathers

Mentors: Erica Zheng, Collins Lab