Determining predictive risk of schizophrenia in individuals with 22qDS through failed mitochondrial compensation

Angela Yang

Students

College

Faculty

Professor of Psychiatry

Project Summary

Over the summer, I had the opportunity to conduct research under the mentorship of Dr. Stewart Anderson at the Children’s Hospital of Philadelphia.

One of the lab’s research focuses is studying mitochondrial deficits in neurons and lymphoblastoid cell lines (LCLs) from patients with schizophrenia and the 22q11 deletion syndrome (22qDS). About 25% of individuals with this copy number variation will develop psychosis and schizophrenia-related symptoms during late adolescent or early adulthood. Thus, our lab focuses on studying why some 22qDS individuals may be diagnosed with schizophrenia while others may not. The goal of my project was to determine whether mitochondrial compensation may predict the onset of psychosis. Before being able to analyze mitochondrial function through lactate-pyruvate ratios and cytochrome c oxidase activity, I cultured lymphoblastoid cells generated from teenagers with 22qDS and made sure that my samples were mycoplasma-free.

Through this experience, I applied cell culture techniques, PCR techniques, and mitochondrial function tests to assess the mito activity in LCLs from individuals with 22qDS. I also learned about the meticulous steps needed in planning a project and performing each step of the process.

Participating in this research project allowed me to further understand and explore material that I had encountered in classes. For example, I could apply the knowledge from my biochemistry and genetics classes to better understand the different genes and enzymes involved in measuring mitochondrial biogenesis and oxidative phosphorylation. I am grateful to CURF and the entire Anderson Lab for this valuable experience and all the support they have provided me.