Impacting the Larger Population

The cure for PJS will lead the way to effective treatments for many other life-threatening health issues where LKB1 (STK11) gene mutation is at the center stage. Other diseases linked to LKB1 (STK11) gene mutations include but are not limited to Lung Cancer ("According to the American Cancer Society, an estimated 606,520 Americans will die from cancer in 2020. This equates to 1,680 people dying of cancer each day in 2020, and 70 dying each hour."), Tuberous Sclerosis, Pancreatic Cancer, Breast Cancer, Stomach Cancer, Small intestine Cancer, Cervical Cancer, Uterine Cancer, Testicular Cancer, Esophageal Cancer, Alzheimer's disease, Cowden Syndrome, Bannayan-Riley-Ruvalcaba Syndrome, Lhermitte-Duclos disease, Proteus Syndrome, Polycystic Kidney disease, Obesity & Type 2 Diabetes, Cardiac Hypertrophy, Cardiovascular disease, Proteus Syndrome.

LKB1 (also known as seine-threonine kinase 11, “STK11”) is a regulator of cell polarity, energy metabolism and cell proliferation. It brings its growth suppressing effect by activating a group of kinases, including adenine monophosphate-activated protein (AMPK) and related kinases. AMPK is a necessary element in cell metabolism that is required for maintaining energy homeostasis.

LKB1 tumor suppressor activity depends on the regulation of AMPK signaling and cell polarization. It is proven that activation of AMPK by LKB1 suppresses growth and proliferation when energy and nutrient levels are imbalanced and insufficient for demand. So, when LKB1 is mutated, it may not activate AMPK properly.

Since LKB1 is meant to regularly prevent cells from growing and dividing too rapidly, its mutation alters its function and ability to restrain cell growth. This coupled with the fact that LKB1 and its associated molecular pathways are sensitive to the environment opens the door for cancer to develop.

Research of the molecular mechanism responsible for Peutz-Jeghers Syndrome (PJS) has revealed important insight into cancer development in the larger population.