Structural analysis of mitochondrial mutations reveals a role for bigenomic protein interactions in human disease.

ABSTRACT: Mitochondria are the energy producing organelles of the cell, and mutations within their genome can cause numerous and often severe human diseases. At the heart of every mitochondrion is a set of five large multi-protein machines collectively known as the mitochondrial respiratory chain (MRC). This cellular machinery is central to several processes important for maintaining homeostasis within cells, including the production of ATP. The MRC is unique due to the bigenomic origin of its interacting proteins, which are encoded in the nucleus and mitochondria. It is this, in combination with the sheer number of protein-protein interactions that occur both within and between the MRC complexes, which makes the prediction of function and pathological outcome from primary sequence mutation data ext

SUBMITTER: Lloyd RE 

PROVIDER: S-EPMC3706435 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature