DIAGNOSIS, THERAPY AND CELLULAR AND ANIMAL MODELS FOR DISEASES ASSOCIATED WITH MITOCHONDRIAL DEFECTS

摘要

The present invention relates to genetic mutations in mitochondrial cytochrome c oxidase genes that segregate with Alzheimer's disease (AD), diabetes mellitus, Parkinson's disease and other diseases of mitochindrial origin. The invention provides methods for detecting these mutations, either before of after the onset of clinical symptoms. The invention further provides treatment of cytchrome c oxidase dysfunction. Cybrid cell lines which have utility as model systems for the study of disorders that are associated with mitochondrial defects are also described. The cybrids are constructed by treating immortal cell lines with an agent that irreversibly disables mitochondrial electron transport, and then transfecting the cells with mitochondria isolated from diseased tissue samples. One such cybrid was constructed using neuroblastoma cells and mitochondria from a patient suffering from Alzheimer's Disease. Methods for using such cybrids for screening drugs and therapies for utility in treating such disorders are also provided. In addition, cybrid animals, methods of producing them, and methods of using them in drug and therapy screening are also provided.