glutathione- new mito test from Stanford

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*New Mito test -* February 9, 2009

From Stanford University

*Posted :* Mon, 09 Feb 2009 22:01:46 GMT

*Author :* Stanford University Medical Center

*Category :* Press Release <http://www.earthtimes.org/articles/pg/0.html>

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STANFORD, Calif. - (Business Wire) Scientists at Stanford University

School of Medicine have devised a much-needed way to monitor and find

treatments 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 and Lucile Packard

Children?s Hospital has *discovered a biological marker they can use to

monitor the diseases*. The finding will enable researchers to hunt for

treatments and help physicians check patients? status before health

crises erupt. *The research will be published online Feb. 9 in the

Proceedings of the National Academy of Sciences. *

*?When a car engine doesn?t work right, it smokes,? said senior study

author Greg Enns, MB, ChB, who is professor of pediatrics at Stanford

University School of Medicine and director of the 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 gunk. Defective mitochondria produce 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 defense

systems. And they found it._*

*_?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. It is the first time such signs have been uniformly shown in

the blood of patients across a wide range of mitochondrial disorders, he

added.

The team saw that levels of *_glutathione_*, the body?s primary

antioxidant, were significantly reduced in white blood cells from the 20

mitochondrial disease patients in the study. The observation means

patients? antioxidant defenses were indeed depleted. *_Glutathione was

also diminished in nine patients with organic acidemias, another group

of metabolic diseases that researchers think may be associated with

aberrant mitochondrial function._*

*_A second finding gave the researchers a big hint about where to hunt

for treatments. Patients taking antioxidant supplements did not have

depleted glutathione, they found._* *_Scientists have long suspected

antioxidants such as vitamin C and vitamin E might help patients with

mitochondrial disease or organic acidemias, and doctors sometimes

suggest the supplements to their patients. But no one has been able to

test whether they work_*.

*?As a clinician, one of the most frustrating things has been not being

sure if supplements are doing any good,? said Enns. ?Now we?re able to

take a baseline blood reading and see ?before? and ?after? snapshots.? *

Craigen, MD, PhD, the director of the metabolic clinic at Texas

Children?s Hospital, called this finding ?the beginning of insight into

the mechanisms of mitochondrial disease.? Craigen, who is also medical

director for the mitochondrial diagnostic lab at Baylor College of

Medicine, was not involved in the Stanford study. ?This new research

provides an opportunity to start treating a heterogeneous group of

diseases in a single fashion, with a simple and easy-to-administer

treatment, potentially improving patients? long-term outcomes,? he

added.*_ _*

*_Glutathione measurements could also help diagnose patients, Enns said,

by giving physicians a clear indication that something is awry in the

mitochondria._* Genetic and molecular tests have already led to

increases in the number of diagnoses, but the diagnosis is still

difficult to pin down.

*_The method Enns? team used to measure glutathione, called

high-dimensional flow cytometry,_* has limitations: it requires very

fresh blood samples, uses expensive equipment only available in research

labs, and provides relative rather than absolute glutathione

measurements. Now that the team knows what metabolic change to look for,

they?re working to develop a more broadly applicable measurement technique.

And glutathione measurements could help scientists unravel other disease

mysteries, too. ?You name the disease, you can postulate mitochondrial

involvement,? Enns said. ?It?s been proposed for everything from poor

vision to hearing loss, kidney disease, liver disease,* autism spectrum

disorders*, diabetes, Alzheimer disease, cancers. Our work could lead to

research on therapies for a broad range of disorders.?

Enns collaborated with research associate Kondala Atkuri, PhD; associate

professor of pathology Tina Cowan, PhD; professor emeritus of genetics

Leonard Herzenberg, PhD; and research professor of genetics Leonore

Herzenberg, PhD, who is also a member of the Stanford Cancer Center. The

Herzenbergs have a financial interest in BioAdvantex, a company whose

dietary supplement, PharmaNAC, is intended to increase glutathione

levels. The study was funded by grants from the United Mitochondrial

Disease Foundation, the Lucile Packard Children?s Hospital Pediatric

Health Research Fund and the Arline and Pete Harman Scholarship.

*Stanford University Medical Center integrates research, medical

education and patient care at its three institutions ? Stanford

University School of Medicine, Stanford Hospital & Clinics and Lucile

Packard Children?s Hospital at Stanford. For more information, please

visit the Web site of the medical center?s Office of Communication &

Public Affairs at http://mednews.stanford.edu

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..*

*Ranked as one of the best pediatric hospitals in the nation by

/U.S.News & World Report and Child /magazine, Lucile Packard Children's

Hospital at Stanford is a 264-bed hospital devoted to the care of

children and expectant mothers. Providing pediatric and obstetric

medical and surgical services and associated with the Stanford

University School of Medicine, Packard Children's offers patients

locally, regionally and nationally the full range of health care

programs and services ? from preventive and routine care to the

diagnosis and treatment of serious illness and injury. For more

information, visit http://www.lpch.org

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Stanford University Medical Center

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