Marina Carlson, PhD, MPhil, BS

1. The role of PTEN in early vertebrate neurodevelopment: I joined Ellen Hoffman’s laboratory in the Child Study Center at Yale School of Medicine for my PhD research. The lab focuses on determining high confidence autism risk gene function in early neurodevelopment using zebrafish. My project analyzes the gene, PTEN, which is associated with autism, congenital hydrocephalus, and cancer. I have also launched a collaboration with another lab at Yale and we recently published a review article on the immense pleiotropy associated with PTEN mutation. I have generated the first CRISPR-induced pten loss of function model in zebrafish. I am currently evaluating neurodevelopment by measuring brain size, brain activity, excitatory and inhibitory circuits, and cell cycle changes. I am also examining larval rest-wake activity patterns and startle stimuli response. I have found that pten heterozygous larvae recapitulate macrocephaly and show startle hypersensitivity, while loss of function mutants have reduced viability and severe morphological changes.

1. DeSpenza T Jr*, Carlson M*, Panchagnula S, Robert S, Duy PQ, Mermin-Bunnell N, Reeves BC, Kundishora A, Elsamadicy AA, Smith H, Ocken J, Alper SL, Jin SC, Hoffman EJ, Kahle KT. (*co-first author) PTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic targets. Trends Neurosci 2021 Oct 5:S0166-2236(21)0016-1. doi: 10.1016/j.tins.2021.08.007.
2. Carlson, M*, Neelakantan, U, Hoffman, EJ. The Role of PTEN in Early Neurodevelopment SACNAS National Diversity in STEM Digital Conference Oct 25 2021 (*presenting author)
3. Carlson, M, The Role of PTEN in Early Vertebrate Neurodevelopment, Training Program in Genetics Seminar Series Sep 23 2021

2. In vivo interactions between BMAA and SOD1 in H4APP neuronal cells: I joined Dr. Joy Goto’s lab at CSU Fresno in August 2017. This lab focuses on environmental contributors to neurodegenerative disease, including Alzheimer’s, Parkinson’s and ALS. My project utilized human H4APP neuroglioma cells to model exposure to toxin beta-N-methylamino-L-alanine (BMAA). I sought to evaluate toxicity, reactive oxygen species production within the mitochondria, total protein concentration, and antioxidant SOD1 protein concentration. I cultured and passaged cells, performed drug treatments, fluorescent microscopy, and western blot to quantify protein levels. We determined that treatment with BMAA caused significant changes in cell shape and morphology, a two-fold increase in cellular protein level, elevated superoxide reactions within the mitochondria, and decreased SOD1 protein.

a. Carlson, M*, Goto, JJ. “In vivo” Interactions between BMAA and SOD1 in H4APP Neuronal Cells Central California Research Symposium Poster Sessions, May 2016, 2017, 2018 (*presenting author); Oral Seminar Series May 2019

b. Carlson, M*, Goto, JJ. “In vivo” Interactions between BMAA and SOD1 in H4APP Neuronal Cells Celebration of Student Research and Projects College Award Ceremony, May 2018 (*presenting author)

c. Carlson, M. “In vivo” Interactions between BMAA and SOD1 in H4APP Neuronal Cells Chemistry Department Thesis Seminar Series, May 2019

d. Carlson, M. “In vivo” Interactions between BMAA and SOD1 in H4APP Neuronal Cells Chemistry Department Undergraduate Thesis Manuscript, internal CSU Fresno CSM database, May 2019

3. The role of Pla2g2f in regulating neural stem cell activation: As part of the Harvard AMGEN scholars program, I conducted research in Dr. Amar Sahay’s laboratory at Massachusetts General Hospital in the summer of 2018. This lab focuses on identifying neurogenic factors in the mouse hippocampus. My project for this REU was to evaluate neurogenesis in mice injected with a construct overexpressing Pla2g2f, an upregulated factor previously identified from RNA-sequencing. I used immunohistochemistry to examine neural stem cell activation, proliferation, and early progenitor cells in the injected mouse dentate gyrus. I also evaluated extracellular lipid droplet accumulation because Pla2g2f is a phospholipase. My preliminary data indicated that neuronal progenitor cell number was not increased and there were no significant effects on extracellular lipid droplets.

a. Carlson, M*, Vicidomini, C, Sahay, A. The Role of Pla2g2f in Regulating Neural Stem Cell Activation ASURH Harvard Summer Research Program Poster Presentations, August 2018 (*presenting author) b. Carlson, M*, Vicidomini, C, Sahay, A. The Role of Pla2g2f in Regulating Neural Stem Cell Activation Harvard-Amgen Scholars Program Oral Presentation Sessions, August 2018 (*presenting author)