Talking Glossary of Genetic Terms
A vacuole is a membrane-bound cell organelle. In animal cells, vacuoles are generally small and help sequester waste products. In plant cells, vacuoles help maintain water balance. Sometimes a single vacuole can take up most of the interior space of the plant cell.
Vacuoles are membrane-bound organelles that can be found in both animals and plants. In a way, they're specialized lysosomes. That is to say that their function is really to handle waste products, and by handle, mean take in waste products and also get rid of waste products. Sometimes the waste product is water, and therefore a vacuole would have as its function to maintain the balance of water inside and outside a cell. Sometimes a vacuole's function is to get rid of harmful toxins or to clear the extracellular space of those harmful toxins by bringing them into the cell for conversion; for chemical conversion into more safe compounds. The vacuoles are quite common in plants and animals, and humans have some of those vacuoles as well. But vacuole also has a more generic term, meaning a membrane-bound organelle that's lysosome-like.
Name: William Gahl, M.D., Ph.D.
Occupation: Clinical Director, NHGRI Medical Genetics Branch; Head, Human Biochemical Genetics Section
Biography: Dr. Gahl studies rare inborn errors of metabolism through the observation and treatment of patients in the clinic, and through biochemical, molecular biological and cell biological investigations in the laboratory. His group focuses on a number of disorders, including cystinosis, Hermansky-Pudlak syndrome, alkaptonuria and sialic acid diseases. Dr. Gahl has a long-standing research interest in cystinosis, a lysosomal storage disorder caused by a mutation in the CTNS gene. Over the past two decades, Dr. Gahl's laboratory has elucidated the pathogenesis of this disease and demonstrated the safety and efficacy of cysteamine (²-mercaptoethylamine) therapy, a treatment that depletes cells of cystine.