The AMDA is excited to announce that the 2012 AMDA Research Grant Recipient is Dr. Nuno Raimundo of the University of Goettingen in Germany for his Project: “MitochondriaParts of the cell that produce energy. and AutophagyThe cell's internal cleanup system that removes damaged or unneeded material. as Therapeutic Targets for Acid Maltase Deficiency.”
LysosomesA small part of the cell that acts like a recycling center, helping break down waste materials. are responsible for recycling damaged cellular material. Lysosomal storage diseasesA group of diseases in which substances build up inside lysosomes because the body cannot break them down properly. like Pompe DiseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup that damages muscles and can affect breathing and, in some cases, the heart. arise from biochemical deficiencies in the recycling machinery of the lysosomes. It is becoming increasingly clear that deficits in lysosomal performance result in impairment of other cellular organelles, particularly mitochondria, which further contributes to the pathology of lysosomal storage disorders.
The long-term goal of Dr. Raimundo’s project is to improve the skeletal muscleMuscles that control movement and are commonly affected in Pompe disease. phenotypes of Pompe’s disease by enhancing both the recycling capacity of lysosomes, and the generation of new mitochondria, using both biological manipulations and pharmacologic approaches with FDA-approved drugs. This strategy will increase the capacity of lysosomes to clear up damaged cellular components, and increase the amount of “healthy” mitochondria.