Pseudomitochondrial genome haunts disease studies

The accidental amplification of nuclear mitochondrial pseudogenes (NUMTs) can pose a serious problem for mitochondrial disease studies. This report shows that the mutation spectrum left by spurious amplification of a NUMT can be detected because it usuall

We thank Dr M Rosa Chaig, Dr T Kivisild and Dr P Oefner for information about the primer pairs for mtDNA amplification and sequencing and the reviewers for helpful comments. We are grateful to Dr V Labay for alerting us about lack repeatability of certain