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Pivotal role for proteins -- from helping turn carbs into energy to causing devastating disease
Date:5/24/2012

pc1 and Mpc2 are critical for pyruvate entry into mitochondria. When Mpc1 and Mpc2 are eliminated or mutated, pyruvate cannot enter into mitochondria and ATP is not efficiently produced and that's when serious health problems can arise, including the neuromuscular disorder that in its most severe forms is deadly.

The ramifications of this study go beyond the production of ATP and birth defects seen in the neuromuscular disorder. The findings may be useful in understanding some of the metabolic defects associated with cancer and heart disease, according to Rutter. Cancer cells typically don't consume their pyruvate in the production of ATP at the same rate as normal cells. Instead, they convert the pyruvate to lactate. This property of cancer cells is called the Warburg Effect and is named after Nobel laureate and cancer researcher Otto Heinrich Warburg. Some forms of heart disease have a similar problem.

Further study based on the current research may provide important information regarding those diseases, according to Rutter. "That might be the most important outcome of our studies in the long run," he says.

The study's first author is Daniel K. Bricker, a doctoral student in human genetics at the University of Utah. Researchers from Harvard University, and the Laboratoire de Biochimie and the Institut de Genetique et de Biologie Moleculaire et Cellulaire, both in France, also contributed to the study.


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Contact: Phil Sahm
phil.sahm@hsc.utah.edu
801-581-2517
University of Utah Health Sciences
Source:Eurekalert

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