Low “penetrance” of phylogenetic knowledge in mitochondrial disease studies

An up-to-date view of the worldwide mitochondrial DNA (mtDNA) phylogeny together with an evaluation of the conservation of each site is a reliable tool for detecting errors in mtDNA studies and assessing the functional importance of alleged pathogenic mutations. However, most of the published studies on mitochondrial diseases make very little use of the phylogenetic knowledge that is currently available. This drawback has two inadvertent consequences: first, there is no sufficient a posteriori quality assessment of complete mtDNA sequencing efforts; and second, no feedback is provided for the general mtDNA database when apparently new mtDNA lineages are discovered. We demonstrate, by way of example, these issues by reanalysing three mtDNA sequencing attempts, two from Europe and another one from East Asia. To further validate our phylogenetic deductions, we completely sequenced two mtDNAs from healthy subjects that nearly match the mtDNAs of two patients, whose sequences gave problematic results. (c) 2005 Elsevier Inc. All rights reserved.

Special report: Competing on knowledge

Traditionally, the UK has been regarded as good at innovation - with many inventions and scientific breakthroughs. So, can this nation rest easy? No. Based on extensive research by the Advanced Institute of Management Research (AIM), it would appear that the agenda for keeping Britain competitive is a demanding one. Six AIM authors report on what the UK needs to know. And do. © 2008 London Business School.