Peutz Jeghers Syndrome (PJS) & LKB1 (STK11)
LKB1 (also known as seine-threonine kinase 11, "STK11")is a tumor suppressor gene that is mutated or deleted in Peutz-Jeghers Syndrome (PJS) and other life threatening conditions. According to studies, explanation of the molecular mechanism responsible for Peutz-Jeghers Syndrome (PJS) has revealed important insight into cancer development in the larger population.
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. This important information also shines a light on potential research and therapeutic opportunities from emerging fields, including epigenetics, nutrigenomics and biophysics.
LKB1 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 (balanced, stable and constant). 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. More research is also needed to find means to activate AMPK independent of LKB1 in PJS.
“Dear Medical Professionals,
Please identify effective means to stop polyp formation and deter cancerous events. Ultimately, please reverse our mutated tumor suppressor gene, LKB1.”
Keywords: Peutz-Jeghers syndrome; LKB1, STK11; Polyp; Cancer; Polarity; Lung adenocarcinoma; Kinase; AMPK; Mtor: Energy Metabolism; diabetes
Peutz-Jeghers Syndrome (PJS) places an increased risk of developing hamartomatous polyps in the digestive tract and other areas of the body, as well as 93% increased risk of developing cancer throughout life. Cancers associated with PJS include pancreatic, stomach, ovarian, cervical, colon and breast. A hamartoma is a growth of tissue that develps into a benign tumor. However, a benign tumor can become cancerous over time.
Generally growing in the gastrointestinal tract, hamartomatous polyps can bleed, cause blockages, obstructions and intussusception. These issues can be life threatening and may require surgical intervention. Seek medical attention if PJS is present and severe abdominal pain persists or if accompanied by vomiting or blood in the stool.
People with PJS tend to develop dark blue or brown freckling, especially around and in the mouth, lips, fingers and or toes. Freckles generally appear in childhood and often fade with age, often not visible on an adult. This can make later diagnosis difficult, especially notable when cancer is diagnosed, but the patient is unaware that they were born with PJS.
Peutz-Jeghers Syndrome (PJS) & LKB1 (STK11) Tumor Suppressor
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Information on this site is not meant as medical advice. Please contact your doctors for direct and subjective instructions. CurinGenetics has clear a mission to help medical professional find Cures for PJS and LKB1 gene mutations.