New test to track mysterious metabolic diseases developed

February 12th, 2009 - 4:55 pm ICT by IANS  

Washington, Feb 12 (IANS) Scientists have devised a much-needed way to monitor and find treatment for a mysterious and devastating group of metabolic diseases that arise from mutations in cells’ fuel-burning mechanism.
Mitochondrial disorders can cause organ failure, seizures, stroke-like episodes and premature death. The diseases - more than three dozen in total - arise from genetic errors of the mitochondria, the cell structures that process oxygen and turn food molecules into useable energy.

Mitochondrial disorders affect one in 4,000 kids and one in 8,500 adults. They are difficult to diagnose, and no treatments or cures exist.

But that could soon change. A team at Stanford University School of Medicine (SUSM) and Lucile Packard Children’s Hospital has discovered a biological marker they can use to monitor the diseases.

“When a car engine doesn’t work right, it smokes,” said senior co-author Greg Enns, professor of paediatrics at SUSM and director, biochemical genetics program at Packard. “What we looked for is, in essence, biochemical smoke.”

Like a car engine, when mitochondria are not burning fuel cleanly, they kick out nasty residues or large quantities of oxygen free radicals - highly reactive molecules that damage DNA and cell structures.

Comparing patients who have a mitochondrial disorder with healthy people in the control group, Enns’ team searched for signs that free radicals overtax patients’ natural antioxidant defence systems. And they found it, said a SUSM release.

“Even when these patients are coming into the clinic looking pretty healthy, they have evidence of extra metabolic stress,” Enns said, noting the findings were surprising because none of the patients were in the midst of a health crisis such as organ failure when blood samples were taken.

The research was published online in the February edition of the Proceedings of the National Academy of Sciences.

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