Mouse Model of Cardiac and Muscle Disease and Cancer Caused by a Mitochondrial DNA Point Mutation
Background: It is becoming increasingly clear that mitochondrial DNA (mtDNA) base substitution mutations are a common cause of age-related degenerative diseases as well as cancer. However, no mouse model has been generated in which a mtDNA base substitution has been stably introduced into the mouse germline and resulted in an inherited predisposition to and age-related disease or cancer. Technology: UCI researchers report the introduction of a mtDNA harboring a missense mutation in the COI gene into the mouse that predisposes the mice to develop myopathy and hypertrophic cardiomyopathy as well as certain hyperproliferative conditions in an age-related manner. This is the first mouse model for investigating the mitochondrial etiology of age-related diseases and cancer and for use in screening for and determining the efficacy of therapeutic agents to treat these common life threatening disorders. Application: The primary commercial use of these mice will be in screening for the toxicity and efficacy of preventative therapeutics for age related degenerative disease and cancer.
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