Laurence Bindoff
Bindoff’s main research focus is the investigation of mitochondrial disease, particularly mechanisms of how mitochondrial dysfunction leads to disease.
Hovedinnhold
This work has included identifying and studying novel mutations of the mitochondrial genome (mtDNA) and nuclear genes that cause mitochondrial dysfunction. One of the major areas of current research focus is how mutations in the mitochondrial DNA polymerase (POLG) cause disease and why these can affect tissues in different ways.
This area of research is also led into the allied areas of neurodegeneration and ageing. It includes both patient based studies using a national register set up and managed through Haukeland University Hospital, and the generation of models with which to study disease mechanisms.
Recently, Bindoff’s group discovered a completely new disease caused by mutations in the mitochondrial protease PITRM1. We found that a defect in PITRM1 causes neurodegeneration and amyloid deposition and we have ongoing studies that seek to understand the mechanism.