New research paper published - novel genetic analysis approach for Leigh Syndrome

Dr David Stroud, a NHMRC Doherty Fellow from our lab, co-lead a study with collaborators from the Murdoch Children’s Research Institute, investigating the genetic underpinnings and proteomic changes of patients with Leigh Syndrome.  

Their research revealed that mutations in the MRPS34 gene, a component of the mitoribosome, leading to severe effects on the protein synthesis of mitochondrial encoded proteins required for mitochondrial respiration and energy production. 

A link to the news post on the BDI homepage can be found here.

The publication in the American Journal of Human Genetics can be found here.