Malfunctioning of the mitochondria can lead to metabolic disorders in the person affected. Furthermore, mutations in the mitochondrial DNA (mtDNA) are causing muscle weakness, neurodegenerative diseases, cardiac disorders as well as diabetes, and are linked to the ageing process.
Opinions have been divided as to exactly how and when health-endangering mitochondrial mutations are inherited, as the transmission of mtDNA does not follow the classic Mendelian laws of inheritance whereby both mother and father contribute to each piece of hereditary information. This prompted Christoph Freyer, research scientist at the Max Planck Institute for Biology of Ageing in Cologne and the Karolinska Institute in Stockholm, to develop a new mouse model: The main player here is a pathogenic, i.e. a disease-inducing mutation in a mitochondrial gene known as “tRNA methionine”. Mutations in mitochondrial tRNA genes cause a high percentage of the known mitochondrial diseases, although tRNA genes constitute only a fraction of the total mtDNA. This discrepancy has never been satisfactorily explained.
With these scientific findings, the researchers uncovered a feature of maternal genetics that may pave the way to novel possibilities for genetic diagnosis.
Moreover, the observation that in this model, too, the mice mitochondria try to compensate potential defects caused by mutations provides further insight into the hereditary mechanisms underlying mitochondrial disease. “Perhaps,” suggests Freyer, “this compensation could be stimulated by medical means.” The young researcher plans to use his mouse model in future to test therapies that could possibly prevent the hereditary transmission of mtDNA mutations.
Sabine Dzuck | Max-Planck-Institut
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