Work from our lab has shown that mutations in the gene for the Complex I assembly protein TMEM126B can result in mitochondrial disease. In collaboration with an extensive international team including the Murdoch Children’s Research Institute in Melbourne and Newcastle University Medical School in Newcastle upon Tyne, genetic and biochemical analysis investigated the outcome of these genetic defects in a number of individuals carrying various mutations. This work further increases the number of genes that can carry mutations resulting in mitochondrial disease and may help with therapeutic interventions in the future.
Congratulations to Dr. Luke Formosa who is shared-first author of this article.
This work was recently published work the journal American Journal of Human Genetics.