The inheritance of pathogenic mitochondrial DNA mutations

• Published in: Biochimica et biophysica acta 2009-12, Vol.1792 (12), p.1097-1102
• Main Authors: Cree, L.M., Samuels, D.C., Chinnery, P.F.
• Format: Article
• Language: English
• Subjects: Animals; DNA, Mitochondrial - genetics; Genetic bottleneck; Genetic Diseases, X-Linked - genetics; Humans; Inheritance; Mitochondria; Mitochondrial Diseases - genetics; mtDNA; Mutation - genetics; Review
• ISSN: 0925-4439; 0006-3002; 1879-260X
• DOI: 10.1016/j.bbadis.2009.03.002

Mitochondrial DNA mutations cause disease in >1 in 5000 of the population, and ∼1 in 200 of the population are asymptomatic carriers of a pathogenic mtDNA mutation. Many patients with these pathogenic mtDNA mutations present with a progressive, disabling neurological syndrome that leads to major disability and premature death. There is currently no effective treatment for mitochondrial disorders, placing great emphasis on preventing the transmission of these diseases. An empiric approach can be used to guide genetic counseling for common mtDNA mutations, but many families transmit rare or unique molecular defects. There is therefore a pressing need to develop techniques to prevent transmission based on a solid understanding of the biological mechanisms. Several recent studies have cast new light on the genetics and cell biology of mtDNA inheritance, but these studies have also raised new controversies. Here we compare and contrast these findings and discuss their relevance for the transmission of human mtDNA diseases.