What is a 'novel' mtDNA mutation – and does 'novelty' really matter?

Hans-Jürgen Bandelt, Antonio Salas, Claudio M. Bravi
2006 Journal of Human Genetics  
The hunt for pathogenic mitochondrial DNA (mtDNA) mutations is often fueled by the seeming novelty of mutations that are either nonsynonymous or affect the protein synthesis machinery in patients. In order to determine the novelty of a de tected mutation, the working geneticist nearly always consults MITOMAPoften exclusively. By reanalyz ing some case studies of refractory anemia with ring sideroblasts, prostate cancer, and hearing impairment, we demonstrate that the practice of solely relying
more » ... n MITOMAP can be most misleading. A notorious example is the T1243C mutation, which was assessed to be novel and deemed to be associated with some (rare) disease simply because researchers did not realize that T1243C defines a deep branch in the Eurasian mtDNA phylogeny. pected of being pathogenic are in actual fact known (and presumably neutral) polymorphisms (although unknown to MITOMAP). and this becomes glaringly evident when proper database searches and straight forward Internet queries are carried out.
doi:10.1007/s10038-006-0066-5 pmid:17021933 fatcat:b6osxsjgf5bwfny45qmsghaxny