Calvo Next - Generation Sequencing Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted

sequencing. by Calvo and colleagues will help to calibrate clinicians' expectations regarding the diagnostic use of next-generation possible underscores the challenge of interpreting DNA sequence data for clinical diagnosis. Nevertheless, the study formally proven to be linked to mitochondrial disease. The remaining 50% of patients in whom diagnosis was not mitochondrial disease. An additional 25% of cases could be solved in the coming few years as more genes are sequencing may be able to provide a molecular diagnosis for ~25% of currently unsolved cases of infantile able to show that the mutations caused the mitochondrial disorder. These results suggest that next-generation prioritized recessive mutations in genes not previously linked to disease. For two of these genes, the authors were molecular diagnoses were made in genes previously linked to mitochondrial diseases; 13 patients (31%) had showed fivefold enrichment in the patients compared to that in healthy control individuals. In 10 patients (24%), firm rare in the general population, predicted to disrupt protein function, and inherited in a recessive fashion. Such variants mitochondrial biology. Of all the DNA differences present in the patients, the researchers prioritized those that were previously linked to mitochondrial disease, and the ~1000 additional genes that are known to participate in clinical genetic testing. Then, for each child, they sequenced the DNA of the mitochondrial genome, the 100 genes First, the authors selected 42 unrelated infants with mitochondrial diseases that were refractory to standard clinical presentation. notoriously difficult to diagnose because of the multitude of candidate genes and the highly variable nature of the next-generation sequencing to infants with mitochondrial disorders, a large collection of inherited diseases that are given the challenge of interpreting DNA variations in individual patients. In a new study, Calvo and colleagues apply disease genes. Despite these successes, it is unclear how useful the technology will be for routine clinical diagnosis Next-generation DNA sequencing is being applied with great success in research settings to uncover new Getting to the Genetic Root of Mitochondrial Disease