nature genetics, Nov 2012: whether mitochondrial diseases will be inherited is largely decided when the mother herself is still an embryo
Max Planck researcher Christoph Freyer sheds light on hereditary processes with new model system
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. But how and when is the proportion of pathogenic mtDNA mutations that will be inherited determined? Up to now there has been no suitable model system available to explore this question. Max Planck researcher Christoph Freyer has developed a new model and, together with an international research team, has got some answers: Intra-family differences in the degree of mutation of the mitochondrial genes are largely established before the mother herself is born.
These basic research findings uncover a feature of maternal genetics that may pave the way to novel possibilities for genetic diagnosis.
Read our detailed press release.
Learn more about the research on mitochondrial biology carried out at the Max Planck Institute for Biology of Ageing: Department Larsson