Mitochondrial genetic screening created

SEATTLE, Oct. 22 (UPI) -- U.S. medical scientists say they've developed an innovative clinical diagnostic test to identify a wide range of mitochondrial disorders.

The scientists from the Seattle Children's Research Institute and the University of Washington said mutations to one of the mitochondrial genes, or to a number of nuclear genes with roles in mitochondrial function, can cause diseases which have very similar symptoms, making them difficult to diagnose and treat.

The researchers' new molecular diagnostic tool uses targeted genetic sequencing to screen a patient's DNA for variations in 362 genes that have been associated with mitochondrial disease or mitochondrial function.

They tested the tool by using it to screen three DNA samples. Two of the samples were taken from patients with mitochondrial disorders, who had been previously diagnosed by traditional sequencing methods, while the third came from a healthy individual. They said they found their new method was able to identify accurately the mutation underlying each patient's condition.

"Early and effective diagnosis (of mitochondrial disorders) is crucial for permitting appropriate management and accurate counseling," lead authors Jay Shendure and Sihoun Hahn said.

Hahn added: "Our study indicates that the use of next generation sequencing technology holds great promise as a tool for screening mitochondrial disorders."

The research is reported in the journal Genome Medicine.