Institute of Neuroscience

Mitochondrial gene expression

Mitochondrial gene expression

Correct expression of mitochondrial DNA (mtDNA) is essential for life, and genetic defects perturbing this process are an important cause of mitochondrial disease.

Despite its crucial importance, a detailed understanding of mtDNA expression is still lacking. For example, there is no method for transfecting mammalian mitochondria in intact cells making it impossible to interrogate in vivo RNA/DNA elements implicated in gene expression, not one mitochondrial ribonuclease has been implicated in mtRNA degradation and there is no faithful in vitro reconstituted mitochondrial protein synthesis system. 

To design effective therapies for patients with mitochondrial disease it is essential to increase our understanding of the molecular mechanisms and key factors that underpin human mtDNA expression.

The project aims to:

  • Identify critical factors and pathogenic defects underlying mitochondrial gene expression
  • Address important questions relating to mitochondrial gene expression
  • Establish the genetic basis in patients that will enable families to be counselled with definitive genetic advice.

Newcastle University staff and students linked to the project:

Return to the main Mitochondrial Research page