According to an article from the Augusta Free Press, a research team from Vanderbilt University and the Virginia Tech Carilion Research Institute has successfully managed to uncover the manner in which a genetic mutation is responsible for Von Hippel-Lindau syndrome, a disorder that causes tumors to grow in several of the body’s vital organs. The results of the study were published recently in the journal JCI Insight, which is operated by the American Society for Clinical Investigation.
In Von Hippel-Lindau syndrome, many of the tumors start out as benign but have the potential to become malignant. Symptoms associated with the condition include limb weakness, loss of coordination and balance, headaches, dizziness, high blood pressure, and vision issues. Tumors may affect the central nervous system, the lymphatic system, the adrenal glands, and kidneys. The mutations responsible cannot be reversed, but tumors are often surgically removed if they begin to cause symptoms. Early treatment is essential for improved outcomes and quality of life. People with the condition are subjected to regular screenings in order to detect potential tumors and to intervene before they begin to cause major harm. To learn more about Von Hippel-Lindau syndrome (VHL), click here.
Researchers noted the disorderly and sporadic changes to vasculature that the syndrome caused (which eventually transformed into tumors) and they were curious to discover what led to the changes, especially since, in healthy people, the mutated gene is responsible for tumor suppression. The syndrome causes existing blood vessels to reshape themselves erratically and new blood vessels also grew in abnormal ways.
The Von Hippel-Lindau protein is normally responsible for detecting oxygen levels within the body. This is important because it helps determine the manner in which the vascular cells develop and grow. The mutated gene completely confuses this process, which results in the unusual vessel structure and ultimately the formation of tumors.
The researchers hope that this new mechanism, termed the Notch pathway, can be a possible route for new treatments to be developed that can help treat VHL syndrome. Hopefully, this new data will be able to further advance treatment options for this rare and unusual disease.
