Bipolar 1 Disorder

Summary

This project investigates the genetic and molecular underpinnings of Bipolar 1 Disorder (BP-1), focusing on single nucleotide polymorphisms (SNPs) in the BDNF, CACNA1C, and ANK3 genes. BP-1 is characterized by extreme mood swings between manic and depressive states, with symptoms including high energy, irritability, and suicidal ideation. Environmental factors, such as stress and substance abuse, exacerbate the disorder's severity and frequency. The BDNF gene, responsible for brain-derived neurotrophic factor, regulates neuroplasticity and synaptic function. Mutations in BDNF disrupt neurogenesis and neurotransmitter balance, contributing to mood instability. CACNA1C, encoding a calcium channel subunit, affects neuronal excitability and neurotransmitter release, with mutations causing hyperactive calcium signaling linked to manic episodes. ANK3 plays a role in neuronal structure and action potential regulation, and mutations impair sodium and potassium ion channel function, disrupting neuronal communication. Treatment typically involves mood stabilizers such as lithium and lamotrigine, which regulate neurotransmitter levels and neuronal activity. Lithium reduces dopamine and glutamate activity, while lamotrigine stabilizes neuronal membranes. However, treatment outcomes remain inconsistent, highlighting the need for personalized therapeutic strategies. The study underscores the need for deeper research into the gene-environment interactions influencing BP-1, with the goal of developing targeted therapies addressing the genetic and neurobiological roots of the disorder.

Optimal circuitry arrangements and behavior, resulting in plasticity and survival.
(Figure representation created by the authors:Oliver Bodden-Howard and Marissa Miller)

Neuron location of expression of genes-of-interest BDNF(red square), CACNA1C(cloud-gray/light blue horizontally oriented oval), ANK3(neutral blue triangle)
(Figure representation created by the authors:Oliver Bodden-Howard and Marissa Miller)

Video Presentation

Impact Statement

My name is Marissa Miller, and I am currently a senior at the International High School of San Francisco. Our research project investigates how single-nucleotide polymorphisms in the genes BDNF, CACNA1C, and ANK3 collectively contribute to the pathophysiological mechanisms underlying Bipolar-1 Disorder. Through the Extended Research Program at Elio Academy, I was able to build upon my previous knowledge of psychiatric disorders by critically analyzing scientific literature and utilizing different biomedical databases. Combined with the weekly lectures that explored the principles of disease research as well as things like protein structure, genes, and cell therapy, I will be well equipped for any future research I pursue. This program also helped me bring together multiple disciplines like neuroscience, pharmacology, and genetics to explore the relationship between genetic variations and treatment outcomes, enabling me to apply these skills to my future career.

Report White Paper

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By: Oliver Bodden-Howard and Marissa Miller. The opinions expressed here are the views of the writer and do not necessarily reflect the views and opinions of Elio Academy.

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