Neuroscience and Neurobiology Commons^™

The Role Of Placental Genes On Intellectual Disability And Developmental Delay, Maedot A. Yidenk

Dissertations, Theses, and Capstone Projects

The complex interaction between gene expressions and environmental factors plays a key role in the pathogenesis of various diseases, including neurodevelopmental disorders (Lenroot & Giedd, 2008). This study aimed to evaluate first, the magnitude of association between placental gene Methyl-CpG Binding Protein 2 (MeCP2) and intellectual disability (ID) in the offspring and second, the synergy between placental gene Forkhead box protein 1(FOXP1) and developmental delay (DD) in the offspring. We focused on assessing two specific paradigms, i) placental gene expressions of MeCP2 among children that have ID vs. children without ID; and ii) placental gene expression of …

Clinical, Neuroimaging, And Molecular Spectrum Of Tecpr2-Associated Hereditary Sensory And Autonomic Neuropathy With Intellectual Disability, Sonja Neuser, Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O'Grady, Michael Zech, Siddharth Srivastava, Shahnaz Ibrahim, Fatima Khan

Department of Paediatrics and Child Health

Bi-allelic TECPR2 variants have been associated with a complex syndrome with features of both a neurodevelopmental and neurodegenerative disorder. Here, we provide a comprehensive clinical description and variant interpretation framework for this genetic locus. Through international collaboration, we identified 17 individuals from 15 families with bi-allelic TECPR2-variants. We systemically reviewed clinical and molecular data from this cohort and 11 cases previously reported. Phenotypes were standardized using Human Phenotype Ontology terms. A cross-sectional analysis revealed global developmental delay/intellectual disability, muscular hypotonia, ataxia, hyporeflexia, respiratory infections, and central/nocturnal hypopnea as core manifestations. A review of brain magnetic resonance imaging scans demonstrated a …

Molecular Characterization Of A Unique Population Of Human Cortical Interneurons; Implications For Primate-Specific Development, Crina Peterson

Biomedical Sciences ETDs

The human brain consists of 86 billion neurons compared to rodent brain, which consists of 75 million neurons, and the underlying mechanisms for the increased complexity of the primate cortex are not fully elucidated. However, an increase in specific cell populations, including calretinin-expressing (CALB2/CR) interneurons (INs), has been identified. In my thesis work, I demonstrate that human pluripotent stem cells (hPSCs) differentiated to neurons by default patterning give rise to this CR population in vitro, providing a method to study their development.

Chapter I reviews cortical development and hPSCs as an appropriate proxy for studying human cortical development. Chapter …

The Effects Of Mapk Signaling On The Development Of Cerebellar Granule Cells, Kerry Morgan

University Scholar Projects

The granule cells are the most abundant neuronal type in the human brain. Rapid proliferation of granule cell progenitors results in dramatic expansion and folding of the cerebellar cortex during postnatal development. Mis-regulation of this proliferation process causes medulloblastoma, the most prevalent childhood brain tumor. In the developing cerebellum, granule cells are derived from Atoh1-expressing cells, which arise from the upper rhombic lip (the interface between the roof plate and neuroepithelium). In addition to granule cells, the Atoh1 lineage also gives rise to different types of neurons including cerebellar nuclei neurons. In the current study, I have investigated the …

The Effects Of Mapk Signaling On The Development Of Cerebellar Granule Cells, Kerry Morgan

Honors Scholar Theses

The granule cells are the most abundant neuronal type in the human brain. Rapid proliferation of granule cell progenitors results in dramatic expansion and folding of the cerebellar cortex during postnatal development. Mis-regulation of this proliferation process causes medulloblastoma, the most prevalent childhood brain tumor. In the developing cerebellum, granule cells are derived from Atoh1-expressing cells, which arise from the upper rhombic lip (the interface between the roof plate and neuroepithelium). In addition to granule cells, the Atoh1 lineage also gives rise to different types of neurons including cerebellar nuclei neurons. In the current study, I have investigated the …

In Utero And Postnatal Oxycodone Exposure: Implications For Intergenerational Effects, Katherine E. Odegaard

Theses & Dissertations

Prescription opioid abuse during and after pregnancy is a rising public health concern. Adding a layer of complexity is the role of heredity in the overall development of these exposed offspring. The present work uses a preclinical rat model mimicking oxycodone (oxy) exposure in utero (IUO) and postnatally (PNO) to investigate comparative and intergenerational effects in the two different exposure groups.

To understand the direct effects of IUO and PNO exposure on the F1 generation, we employed a systems biology approach encompassing proton magnetic resonance spectroscopy (¹H-MRS), electrophysiology RNA-sequencing, and pain assessment to elucidate molecular and behavioral changes …

355— Topographical Individualized Neuromarkers In The Analysis Of The Brain Functioning Of Social-Emotional Development, Maya Pellitteri, Daniella Leone, Emma Piwko, Michael Schulz, Sarina Singh, Bradley Taber-Thomas

GREAT Day Posters

Topographical Individualized Neuromarkers (TIN) are spatially arranged patterns of brain function used to develop novel brain markers of social-emotional functioning and development. The current study focuses on developing markers of risk for psychological problems in children. We are expanding on previous research that indicates the brains of shy children differ from the brains of non-shy children, where shy children present with a topographical pattern of brain function that may be considered an internally hypervigilant neuromarker (Taber-Thomas et al., 2016). Using the online software, Neurosynth, we will extend our research into neuromarkers for other disorders using publicly available data. This program …

Corticospinal Excitability During A Perspective Taking Task As Measured By Tms-Induced Motor Evoked Potentials, Elizabeth Murray, Janet Brenya, Katherine Chavarria, Karen J. Kelly, Anjel Fierst, Nathira Ahmad, Caroline Anton, Layla Shaffer, Kairavi Kapila, Logan Driever, Kayla Weaver, Caroline Dial, Maya Crawford, Iso Hartman, Tommy Infantino, Fiona Butler, Abigail Straus, Shakeera L. Walker, Brianna Balugas, Matthew Pardillo, Briana Goncalves, Julian Keenan

Department of Biology Faculty Scholarship and Creative Works

Only by understanding the ability to take a third-person perspective can we begin to elucidate the neural processes responsible for one’s inimitable conscious experience. The current study examined differences in hemispheric laterality during a first-person perspective (1PP) and third-person perspective (3PP) taking task, using transcranial magnetic stimulation (TMS). Participants were asked to take either the 1PP or 3PP when identifying the number of spheres in a virtual scene. During this task, single-pulse TMS was delivered to the motor cortex of both the left and right hemispheres of 10 healthy volunteers. Measures of TMS-induced motor-evoked potentials (MEPs) of the contralateral abductor …

The Influence Of Autism Linked Gene Topoisomerase 3b (Top3b) On Neural Development In Zebrafish, Sydney Doolittle

Honors College Theses

Autism Spectrum Disorder is a class of developmental disabilities characterized by a spectrum of social, communication, and behavioral impairments in affected individuals. Studies have shown these defects stem from abnormal brain development during critical periods during early development. The underlying genetic cause of these impairments is not well understood but is believed to be a combination of a complex pairing of genetic and environmental factors. One of the genetic factors that has been recognized to influence the phenotypic symptoms of ASD is the enzyme topoisomerase 3β (top3β.) Topoisomerases are responsible for the prevention of supercoiling during DNA replication. Top3β is …

Pornography: Social, Emotional And Mental Implications Among Adolescents, William Kelly Canady

National Youth Advocacy & Resilience Conference

This presentation will explain the historical development of pornography. It will highlight four segments: 1- Porn’s impact on brain development of reward pathways, ultimately increasing the appetite for more porn. 2- Porn can be a false substitute for real intimacy, resulting in decreased sexual satisfaction with a real person and increased verbal and physical aggression. 3- Porn promotes sex trafficking, promotes multiple sex partners and reduced STD prevention. 4- A review of interventions available to assist clients in navigating a lifestyle away from pornography.

White-Matter Tract Connecting Anterior Insula To Nucleus Accumbens Predicts Greater Future Motivation In Adolescents, Josiah K. Leong, Tiffany C. Ho, Natalie L. Colich, Lucinda Sisk, Brian Knutson, Ian H. Gotlib

Psychological Science Faculty Publications and Presentations

The motivation to approach or avoid incentives can change during adolescence. Advances in neuroimaging allow researchers to characterize specific brain circuits that underlie these developmental changes. Whereas activity in the nucleus accumbens (NAcc) can predict approach toward incentive gain, activity in anterior insula (AIns) is associated with avoidance of incentive loss. Recent research characterized the structural white-matter tract connecting the two brain regions, but the tract has neither been characterized in adolescence nor linked to functional activity during incentive anticipation. In this study, we collected diffusion MRI and characterized the tract connecting the AIns to the NAcc for the first …

A Pathogenic Ufsp2 Variant In An Autosomal Recessive Form Of Pediatric Neurodevelopmental Anomalies And Epilepsy, Min Ni, Bushra Afroze, Chao Xing, Chunxiao Pan, Yanqiu Shao, Ling Cai, Brandi L. Cantarel, Jimin Pei, Nick V. Grishin, Stacy Hewson

Department of Paediatrics and Child Health

Purpose: Neurodevelopmental disabilities are common and genetically heterogeneous. We identified a homozygous variant in the gene encoding UFM1-specific peptidase 2 (UFSP2), which participates in the UFMylation pathway of protein modification. UFSP2 variants are implicated in autosomal dominant skeletal dysplasias, but not neurodevelopmental disorders. Homozygosity for the variant occurred in eight children from four South Asian families with neurodevelopmental delay and epilepsy. We describe the clinical consequences of this variant and its effect on UFMylation.
Methods: Exome sequencing was used to detect potentially pathogenic variants and identify shared regions of homozygosity. Immunoblotting assessed protein expression and post-translational modifications in patient-derived fibroblasts. …

From Crib To Bench: Understanding Neonatal Opioid Withdrawal Syndrome (Nows) Using A Novel Rodent Model, Sarah Stevens

Theses, Dissertations and Capstones

As the opioid epidemic continues to grow, opioid use among pregnant women is increasing significantly. This has led to a steady rise in the number of infants born with neonatal opioid withdrawal syndrome (NOWS). Although short-term withdrawal symptoms associated with NOWS are well characterized, there are many gaps in our understanding of the short and long-term effects of prenatal opioid exposure. In CHAPTER 1, we describe the clinical presentation, associated neurodevelopmental challenges, and current treatments of NOWS. Our current understanding of the neuropathology of NOWS is limited, and therefore further research is needed. However, current animal models are limited by …

The Role Of Vps54 In Drosophila Melanogaster Neuronal Development And Age Progressive Neurodegeneration, Emily Wilkinson

Electronic Theses and Dissertations

Vps54 is a subunit of the Golgi-associated retrograde protein (GARP) complex, which is involved in tethering endosome-derived vesicles to the trans-Golgi network (TGN). The “wobbler” mouse is the phenotypic result of a destabilizing point mutation in Vps54. This mutation causes neurodegeneration and is subsequently used as a model for human motor neuron disease. Presently, it is unclear how disruption of GARP complex function leads to motor neuron degeneration. To better understand the role of Vps54 in motor neuron development, function, and age-related neurodegeneration, we disrupted expression of the Vps54 ortholog in Drosophila and examined the impact on larval neuromuscular junction …

Open Neuroscience Initiative, Austin Lim

College of Science and Health Full Text Publications

The Open Neuroscience Initiative is a free-to-use textbook

This project began as a means to overcoming the financial burden that face undergraduate neuroscience students when buying textbooks. By compiling and writing a completely free-to-access textbook that covers the foundations of a typical college introduction to neuroscience course, students would have one less obstacle to overcome in their educational career, allowing them to focus their valuable time and attention on learning rather than finances. To make this project a reality, I began with a humble tweet in May 2019 that managed to gain a tiny bit of traction among the neuroscience …

Estrogen Disruption Of Hypothalamic Neural Activity, Princess Dickson

Cal Poly Humboldt theses and projects

The brain is highly dependent on the endocrine system for proper neurodevelopment, as it plays a key role in many biological processes. Bisphenol A is a chemical found in plastics that has the potential to mimic the effects of Estrogen in the body, at least weakly. People interact with plastic that contains BPA regularly, and people are at risk for exposure even before being born. The abundance of BPA, along with other exogenous estrogens, makes examining the relationship between early exposure and changes in brain activity imperative. The current study aims to establish a relationship between disrupted estrogen function and …

Protocadherin-19 Expression And Function In Vertebrate Brain Review, Makana Mcguire

Williams Honors College, Honors Research Projects

For this project, a systematic review will be conducted on published studies on protocadherin-19 expression and function in vertebrate central nervous system development in the last 10 years. Protocadherin-19 (pcdh19) is a member of the cadherin superfamily. Cadherins are calcium-dependent cell adhesion molecules show to play important roles in vertebrate tissue development including the formation of the central nervous system. Understanding molecular and cellular mechanisms underlying the function of pcdh19 will help aid in understanding disease(s) caused by malfunction of this molecule, and lead to potential strategies for treatment. Data will be collected via online search of databases. The project …

Using Zebrafish To Elucidate The Expression And Gene Regulatory Network Of The Genomic Screen Homeobox Transcription Factors And Bring Innovative Science Learning Experiences To West Virginia, Rebecca Ann Coltogirone

Graduate Theses, Dissertations, and Problem Reports (ETD)

Central nervous system (CNS) development requires a code of regionally expressed transcription factors that impart initial neuronal cell identity, connectivity, and function. The absence of a transcription factor code would eliminate the neurodevelopmental logic producing diverse cell types in the CNS. Furthermore, early disruptions in transcription factor expression can affect later connectivity and function of neuronal circuits mediating sensory processing, defects in which are often observed as comorbid with various neurodevelopmental disorders (NDDs). Characterizing transcription factor expression and function is therefore an essential step in discerning the molecular mechanisms underlying human NDDs. genomic screen homeobox 1 and 2 (gsx1 …

The Role Of Glt-1 Signaling In Oligodendrocytes During Development And Myelin Repair, Elizabeth Thomason

Theses and Dissertations

The differentiation of oligodendrocyte progenitor cells (OPCs) into myelinating oligodendrocytes (OLGs) requires an increase in the complexity of process morphology, alterations in membrane trafficking, and the production of myelin proteins. Branching and process extension have already been shown to follow glutamate signaling through OLG-expressed excitatory amino acid transporters (EAATs), mostly via GLT-1. It is of note that glutamate homeostasis often goes awry in multiple sclerosis (MS), the main demyelinating disease in humans. Thus, we have sought to gain an understanding of the role that GLT-1 plays under the myelination and remyelination conditions that arise during natural development of OLGs and …

Neurocounseling And The Counseling Profession: Integrating Neuroscience Into The Practice Of Counseling, Sherri Clark

Dissertations, Theses, and Projects

Neurocounseling integrates Neuroscience into mental health counseling by using psychoeducation, teaching, and illustrations as well as other forms of therapy (CBT, Interpersonal Psychotherapy, Narrative Therapy, etc.) to assist clients in understanding the neurological basis of many mental and behavioral health concerns. Clients can benefit from Neurocounseling as they gain a more comprehensive understanding of the central nervous system and brain function in connection to the body, cognition, mood, and behaviors, also known as the mind and body connection. Neuroplasticity and neurogenesis allow us to understand the brain’s amazing capability to grow and change. Understanding neuroscience allows for more integrated case …

Prenatal Alcohol Exposure Alters Transcriptional Expression Of Stress And Tlr4-Related Immune Signaling Factors In The Brain Following Early Life Stress, Chaselyn D. Ruffaner-Hanson

Biomedical Sciences ETDs

Background: Depression and anxiety disorders, believed to be caused by stress-related neuropeptides and pro-inflammatory molecules in the brain, are prevalent comorbidities of fetal alcohol spectrum disorders (FASD).

Methods: Brain tissue was collected following a 4-hour maternal separation stress during the early postnatal period, postnatal days 10 and 12, from mice subjected to 1^st and 2^nd trimester prenatal alcohol exposure (PAE).

Hypothesis: We hypothesized that PAE leads to glucocorticoid receptor insensitivity, stress molecule overexpression, and potentiated toll-like receptor 4 (TLR4) pathway inflammatory responses in the brain following early life stress.

Results: PAE and stress increased mRNA expression of TLR4 …

Qki-Mediated Cholesterol Biosynthesis In Eye Lens And Myelin Of The Central Nervous System, Seula Shin, Seula Shin

Dissertations and Theses (Open Access)

Cells obtain cholesterol in two ways, de novo biosynthesis and uptake from circulation. While most tissues utilize both sources, eye lens and brain depend extensively on cholesterol biosynthesis due to the limited supply from circulation. Lens cell membrane consists of highest portion of cholesterol. Brain is the most cholesterol-rich organ, which accounts for 23% of total cholesterol. Genetic mutations of cholesterol biosynthesis enzymes in humans and animal models present cataracts and hypomyelinating disorders linked to neurological impairment. Yet, it remains unclear how gene expression of cholesterol biosynthesis is regulated in lens and brain. Therefore, studying cholesterol biosynthesis in both tissues …

Qki-Mediated Cholesterol Biosynthesis In Eye Lens And Myelin Of The Central Nervous System, Seula Shin, Seula Shin

Dissertations and Theses (Open Access)

Cells obtain cholesterol in two ways, de novo biosynthesis and uptake from circulation. While most tissues utilize both sources, eye lens and brain depend extensively on cholesterol biosynthesis due to the limited supply from circulation. Lens cell membrane consists of highest portion of cholesterol. Brain is the most cholesterol-rich organ, which accounts for 23% of total cholesterol. Genetic mutations of cholesterol biosynthesis enzymes in humans and animal models present cataracts and hypomyelinating disorders linked to neurological impairment. Yet, it remains unclear how gene expression of cholesterol biosynthesis is regulated in lens and brain. Therefore, studying cholesterol biosynthesis in both tissues …

Neurodevelopmental Mechanisms Of Adverse Trauma Outcomes In Emerging Adulthood, Olena Kleshchova

Dissertations, Theses, and Capstone Projects

Background: Exposure to traumatic stress and adversity during the formative years of development can have adverse effects on mental health, neuroendocrine stress system function, and the brain, that persist into adulthood. One candidate mechanism that might confer vulnerability to enduring adverse outcomes of early life trauma is disruption of normal brain maturation. As the brain matures, functional interactions among brain regions change until the functional brain architecture (i.e., the functional connectome) reaches a mature state in adulthood. Given that different neural circuits have distinct developmental trajectories and sensitive periods, traumatic stress at a given point in development might have …

Integrating Affect Perception Tasks From The New York Emotion Battery Into A Comprehensive Measure Of Neuropsychological Change Across The Lifespan, Melinda A. Cornwell

Dissertations, Theses, and Capstone Projects

Background: The ability to perceive others’ emotions is a vital skill for social competency, impacting the success of personal and professional relationships (Brinton & Fujiki, 2011; Cassidy et al., 1992; Côté & Miners, 2006). According to Socioemotional Selectivity Theory (SST; Carstensen, 1991), human motivation develops to become more discerning in choosing milieus that yield the most gratifying return on the investment of personal resources (e.g., time, attention, and effort), perhaps explaining why some research findings indicate that older adults may demonstrate an affect perception (AP) bias described as a positivity effect (Reed et al., 2014). Moreover, AP predicts cognitive and …

Identification Of De Novo Mutations In Prenatal Neurodevelopment-Associated Genes In Schizophrenia In Two Han Chinese Patient-Sibling Family-Based Cohorts, Shan Jiang, Daizhan Zhou, Yin-Ying Wang, Peilin Jia, Chunling Wan, Xingwang Li, Guang He, Dongmei Cao, Xiaoqian Jiang, Kenneth S. Kendler, Ming Tsuang, Travis Mize, Jain-Shing Wu, Yimei Lu, Lin He, Jingchun Chen, Zhongming Zhao, Xiangning Chen

School of Medicine Faculty Research

Schizophrenia (SCZ) is a severe psychiatric disorder with a strong genetic component. High heritability of SCZ suggests a major role for transmitted genetic variants. Furthermore, SCZ is also associated with a marked reduction in fecundity, leading to the hypothesis that alleles with large effects on risk might often occur de novo. In this study, we conducted whole-genome sequencing for 23 families from two cohorts with unaffected siblings and parents. Two nonsense de novo mutations (DNMs) in GJC1 and HIST1H2AD were identified in SCZ patients. Ten genes (DPYSL2, NBPF1, SDK1, ZNF595, ZNF718, GCNT2, SNX9, AACS, KCNQ1, and MSI2) were found to …

Methylmercury Cytotoxicity On Developing Neuronal Lineages And Differences In Susceptibility Based On Media Type, Madeline Henley

The Journal of Purdue Undergraduate Research

No abstract provided.

Characterization Of Neuronal Differentiation And Activity In Human-Induced Pluripotent Neural Stem Cells, Allison Biddinger

The Journal of Purdue Undergraduate Research

No abstract provided.

Sensory Perception, Adrian Rodriguez-Contreras

Open Educational Resources

Different types of sensory systems with their functional modalities will be presented. The biological bases for how these functions are generated and modified will then be described. Scientific information will be integrated into the lectures, such that students use critical skills in interpreting data, proposing hypotheses and designing experiments.

Preliminary Evidence Of The Role Of Medial Prefrontal Cortex In Self-Enhancement: A Transcranial Magnetic Stimulation Study, Birgitta Taylor-Lillquist, Vivek Kanpa, Maya Crawford, Mehdi El Filali, Julia Oakes, Alex Jonasz, Amanda Disney, Julian Keenan

Department of Biology Faculty Scholarship and Creative Works

Humans employ a number of strategies to improve their position in their given social hierarchy. Overclaiming involves presenting oneself as having more knowledge than one actually possesses, and it is typically invoked to increase one’s social standing. If increased expectations to possess knowledge is a perceived social pressure, such expectations should increase bouts of overclaiming. As the medial prefrontal cortex (MPFC) is sensitive to social pressure and disruption of the MPFC leads to decreases in overclaiming, we predicted that transcranial magnetic stimulation (TMS) applied to the MPFC would reduce overclaiming and the effects would be enhanced in the presence of …