Evaluation of pathogenic mechanisms involved in nuclear and mitochondrial DNA-encoded mitochondrial disorders [ 2001 - 2003 ]

Research Grant

Researchers: Prof Carolyn Sue (Principal investigator)

Brief description Mitochondria produce energy for the cell. Disorders of mitochondrial function can cause human disease. These diseases are referred to as the mitochondrial disorders. Mitochondrial disorders usually involve multiple tissues, particularly the muscle and brain.These disorders are usually caused by mutations in two different types of DNA; nuclear and mitochondrial DNA. There are many forms of mitochondrial disorders; some affect young children or infants and others cause adult disease. In some cases, genetic defects may cause the same disease and other mutations may cause a wide range of symptoms. The reason why this occurs is unknown. This study investigates several factors that may determine why some mutations lead to a certain disease and why others may cause different diseases. These factors include the variation in energy levels that are produced by the mutant cells, and the different levels of vunerability that mutated cells may have to induced cell death. The goal of this proposal is to identify the factors that lead to mutations causing different clinical symptoms with the overall aim being to design treatment for these chronic diseases.

Funding Amount $AUD 196,527.54

Funding Scheme NHMRC Project Grants

Notes New Investigator Grant