Faculty Mentor

Dr. Elaine Vanterpool

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Description

One of the biggest mysteries of cancer today is Neuroblastoma. Neuroblastomas are malignancies originating from the early nerve cells of the sympathetic nervous system, often known as neuroblasts. Neuroblasts can occur anywhere throughout the sympathetic nervous system. About one-third of infants are diagnosed with neuroblastoma by the time they turn one year old and the disease frequently starts in infancy. By the age of five, almost 75% have a diagnosis. Neuroblastomas are present in some newborns, but they are not identified until later, when the child or infant starts exhibiting symptoms. Adult cases of NB are quite rare. The majority of neuroblastomas are caused by genetic alterations in neuroblasts that take place during a child's development, sometimes even prior to birth. With present treatment methods, fewer than half of children with aggressive neuroblastoma will live for more than five years. Right now there are no guaranteed solutions for the three genes that were researched were ALK, PHOX2B, and BRCA2. The ALK gene codes for the production of the protein ALK receptor tyrosine kinase, a member of the receptor tyrosine kinase (RTK) protein family. Through a process known as signal transduction, receptor tyrosine kinases carry signals from the cell surface into the cell. One protein that helps repair damaged DNA is coded for by the tumor suppressor gene BRCA2. It is one of the genes most commonly affected in cases of familial ovarian and breast cancer. Certain changes in the BRCA2 gene, referred to be risky variants or mutations, can result in cancer. The PHOX2B gene provides instructions for making a protein that is important during development before birth. The PHOX2B protein helps support the formation of nerve cells (neurons) and regulates the process by which the neurons mature to carry out specific functions (differentiation). Some people with PHOX2B gene mutations have both neuroblastoma and Hirschsprung disease. Variations in the PHOX2B gene impact the autonomic nervous system and tissues originating from the neural crest, increasing the likelihood of developing both conditions. While abnormalities in the PHOX2B gene impair the normal development of the sympathetic nervous system, mutations in the ALK gene cause irregular growth of neural crest cells. My Hypothesis is that I think I will find a specific gene that Is linked to more aggressive types of cancer besides neuroblastoma. Since Neuroblastoma has no cure or way to detect it, this information is important to find a way to identify the problem before it has affected the child.

Publication Date

2025

City

Huntsville

Disciplines

Biology

Investigating ALK, PHOX2B, and BRCA2 Gene in Relation to Neuroblastoma

Included in

Biology Commons

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