Investigators: Professor Aleksandra Filipovska, Professor Oliver Rackham
Project description
The project will focus on mitochondrial diseases (MDs) which are the most common group of inherited metabolic diseases world-wide. These diseases affect as many as 1 in 5,000 live births. Although each individual mitochondrial disease is rare, taken together mitochondrial disease is almost as common as childhood cancer. MD affects young infants and children and has devastating consequences that include diminished growth, brain and nervous system failure, loss of hearing, motor function, liver dysfunction and heart attacks that result in premature death.
Because of the multitude of symptoms in patients, mitochondrial disease often go undiagnosed or are misdiagnosed for long periods of time. Mutations in mitochondrial DNA (mtDNA) and nuclear genes encoding mitochondrial proteins can cause mitochondrial disease with varying age of onset and severity. Currently it is not known what causes the heterogeneity of mitochondrial diseases, hampering effective diagnosis in the clinic. There are no cures or effective treatments for mitochondrial diseases. Therefore, there is an urgent need for molecular diagnosis and development of cures and treatments for mitochondrial diseases.
Our project is unique because we have developed tools that can specifically target genetic mutations to revert them from a mutated to normal condition. We will use protein based therapeutics and target them specifically to mitochondrial gene mutations. We will develop a delivery system for these therapeutics to enter cells and mitochondria and test them for their ability to correct the mutations and reverse the disease condition.
This project involves the use of a range of techniques in cell biology (such as cell culture, fluorescence microscopy, western blotting), genomics (DNA and RNA sequencing), molecular biology (cloning, quantitative PCR), and proteomics.