Prof. Dr. Aslı Tolun at İTÜ MOBGAM is working on the identification of new disease genes. The first gene discovery is related to pulmonary alveolar microlithiasis, which is also the first gene discovery study completely conducted in our country. Another identified gene is responsible for childhood Parkinson disease (PARK19A). Later over 20 other inherited disease genes or new phenotypes or inheritance patterns for known diseases have been discovered. Dr Tolun is a member of the Europe Molecular Biology Organization (EMBO).
Previously Dr Tolun’s research team reported two brothers with a progressive brain disease and a mutation (defect) in gene POLR1A (RNA polymerase I). The recent report is a result of an international collaboration describing two unrelated patients with another mutation. Extensive experiments were performed on skin cells of one of those patients to show the consequences of the mutated POLR1A protein on cell functions. The findings confirmed that non-functional POLR1A protein results in neurodegeneration.