Deciphering the Role of LZTR1 in Schwannomatosis
Abstract
Schwannomatosis is a rare genetic disorder that affects around 1 in 40,000 people. Schwann cells are responsible for protecting the nerves; however, in schwannomatosis, abnormal growth of these cells occurs around the spinal and peripheral nerves. As a result, they form multiple noncancerous tumors called schwannomas. Individuals with schwannomatosis often experience chronic pain in early adulthood as well as other symptoms such as numbness, weakness, and vision changes. These symptoms can vary between individuals depending on a number of factors like the size, number, and location of the tumors. To date, treatments for schwannomatosis include the surgical removal of schwannomas and pain management. However, there is no cure or medication for schwannomatosis. The cause of schwannomatosis is unclear; however, in a number of cases, it has been found to be linked to a gene called LZTR1, which provides the instructions to make the LZTR1 protein. It has been hypothesized that LZTR1 regulates the growth of cells. However, in schwannomatosis, the LZTR1 gene is modified. As a result, the protein no longer functions like normal, and cells instead grow in an uncontrolled manner, which ultimately leads to the development of tumors. Currently, there are no studies that explain how the modified LZTR1 gene leads to the development of schwannomatosis. Therefore, my research proposal aims to identify how this modified LZTR1 gene leads to the development of tumors in schwannomatosis. From this research, I hope to identify therapeutic targets that will form the foundation of a drug discovery pipeline. Ultimately, my research proposal will aim to improve our understanding of this understudied genetic disorder and aid the development of a potential therapy for schwannomatosis.
Document Details
- Document Type
- DoD Grant Award
- Publication Date
- Jan 04, 2024
- Source ID
- HT94252310248
Entities
People
- Stephanie Mo
Organizations
- Grossman School of Medicine
- United States Army