Project: High throughput detection of DNA mutations causing mitochondrial disease


Background

 

Recent Australian studies show that 1 out of 250 people will carry a mitochondrial genetic defect, although most are still unaware.

 

The current method involved in diagnosing suspected mitochondrial disease involves screening for selected known mutations in mitochondrial or DNA. However, this means that the majority of mito patients are left with unidentified mutations in mitochondrial. This is because there more than 100 genes are involved in the structure, functioning and maintenance of mitochondrial disease that are yet to be identified.

 

Mitochondrial disease can present itself in many ways, which means it is not always easy to identify whether a disease is mitochondrial or not.

 

Project Overview

 

The AMDF hopes to fund a post-doctorate scientist to start working on DNA samples from mitochondrial patients. These mito patients whose underlying molecule cause of their disease has not yet been elucidated.

 

Objectives

 

  • To discover the unknown genes involved in the structure, function and maintenance of mitochondria
  • To identify the unknown mutations of in mitochondrial or DNA
  • To determine the underlying molecule cause of patients disease.
  • To evaluate the ways in which mitochondrial disease manifests itself as a result of a particular mutation

 

Benefits

 

Having the ability to identify and understand a patient's exact gene at fault and the mutation, increases the chances of them getting the right treatment sooner.

 

The sooner the patient is accurately diagnosed, the sooner they can be treated, decreasing the chance of passing this horrendous disease to their children. The risk of developing a serious case of mitochondrial disease in the general population is about 1 in 5,000.

 

As we study the illness more , and diagnosis is better that incidence will rise. Without accurate molecular diagnosis, patients are denied potential treatment, therefore the importance of this project is enormous. With the knowledge of mitochondrial disease the AMDF can support and give practical information to sufferers and their families as soon as possible.

 

The more we learn about the complexity of mitochondrial disease, the faster we can stop it in its tracks and even one day find a cure!