LAM Treatment Alliance Fast Tracking Treatment Research

LAM is a disease that kills women from all races, classes and countries -- primarily while in their child bearing years. It affects the lungs, kidneys, lymphatic system, and at times the brain. There is no known cure, but we are working hard to find one. Learn More About LAM

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Glossary

Akt (also called protein kinase B, or PKB): An enzyme that plays a key role in cell proliferation and survival. One of Akt's major functions is to block programmed cell death (apoptosis).
AMPK (AMP-activated protein kinase): An enzyme that is activated during times of metabolic stress, to turn off energy-consuming processes and turn on energy-producing processes.
Cyanosis: A physical sign causing bluish discoloration of the skin and mucous membranes. Cyanosis is caused by a lack of oxygen in the blood. Cyanosis is associated with cold temperatures, heart failure, lung diseases, and smothering.
Hamartin: A protein made by the TSC1 gene. Hamartin and tuberin, a protein produced by the TSC2 gene, function together in cells to regulate cell growth and prevent the overgrowth of cells into tumors.
Hemoptysis: Hemoptysis is the coughing up of blood or bloody sputum from the lungs or airway. It may be either self-limiting or recurrent.
Lymphangioleiomyomatosis (LAM): A rare, fatal lung disease that affects women in their childbearing years. In LAM, abnormal smooth muscle-like cells proliferate in the lungs, pulmonary airway, parenchyma, lymphatics, and blood vessels, ultimately leading to respiratory failure.
mTOR (mammalian target of rapamycin): A protein that inhibits the process by which cells break down their own components to recycle the building blocks from which they are made. The mTOR pathway plays a fundamental role in cell growth via the regulation of protein synthesis.
NIH Roadmap for Medical Research: A set of initiatives developed by the U.S. National Institutes of Health aimed at accelerating medical research. The Roadmap identifies the most compelling opportunities in three arenas: new pathways to discovery, research teams of the future, and reengineering the clinical research enterprise.
Proof of concept trials: Clinical trials, performed with a small number of patients, which are aimed at validating understanding of a disease mechanism while giving initial data about the efficacy and safety of an investigational treatment chosen to address that mechanism.
Rapamycin (sirolimus): An immunosuppressive drug commonly given to transplant patients to avoid organ rejection. Rapamycin binds to and inhibits a key regulatory protein called the target of rapamycin (TOR).
Rheb (Ras homolog enriched in brain): A protein that appears to activate nutrient signaling input to mTOR, in combination with the tuberin-hamartin complex.
Systems biology: The study of the dynamic networks of interacting biological elements. (R Aebersold. Institute for Molecular Systems Biology, Zürich, Switzerland)
TOR (target of rapamycin): A key regulatory protein that processes biochemical signals necessary for a cell to progress from the G1 phase to the S phase.
Translational research: An approach to research in which basic science discoveries are translated into clinical applications and clinical observations in turn generate research projects for basic sciences.
TSC1, TSC2: Genes that, when mutated, produce the tuberous syndrome complex. TSC1 and TSC2 produce the proteins hamartin and tuberin, respectively.
Tuberin: A protein made by the TSC2 gene. Tuberin and hamartin, a protein produced by the TSC1 gene, function together in cells to regulate cell growth and prevent the overgrowth of cells into tumors.
Tuberous sclerosis complex (TSC): A complex genetic (inherited) condition characterized by seizures and tumor growth in the brain, kidneys, heart, eyes, lungs and skin. Developmental delay, mental retardation and autism may also be associated with the disease. The disease affects some people severely, while others are mildly affected. Nearly 1 million people worldwide are known to have Tuberous Sclerosis. There are many undiagnosed cases due to the obscurity of the disease and the mild form symptoms may take in some people. Approximately 39 percent of women with TSC also have LAM.