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Research Reveals How Mitochondrial Gene Defects Impair Respiration, Other Major Life Functions
Date:9/24/2009

PHILADELPHIA, Sept. 24 /PRNewswire-USNewswire/ -- Researchers are delving into abnormal gene function in mitochondria, structures within cells that power our lives. Mitochondria are the place where energy is generated from the most basic molecules of food. Because this function is essential to life, defects in mitochondria may affect a wide range of organ systems in humans and animals.

Some names of mitochondrial disorders are Leigh's disease, MELAS syndrome and complex I deficiency. These are often severe and progressive conditions that attack brain, muscles and numerous other parts of the body.

Mitochondrial diseases are individually very rare, but because hundreds of them exist, they collectively have a large impact, affecting at least 1 in 5,000 people, and perhaps more, who often remain undiagnosed. In addition to a wide array of diseases originating in the mitochondria itself, malfunctioning mitochondria also contribute to complex disorders like Parkinson's disease, Alzheimer's disease, epilepsy and diabetes, among others.

For such crucial biological actors, much remains unknown about exactly how mitochondria function. A new study, published Aug. 12 in the online journal PLoS One, sheds light on mitochondrial biology.

Using genetic engineering, researchers interrupted the activity of individual genes directly involved in the production of energy within mitochondria. "If we knock down the function of specific system components, what happens?" said study leader Marni J. Falk, M.D., who directs the Mitochondrial-Genetics Disease Clinic at The Children's Hospital of Philadelphia. "Our ultimate goal is to translate the knowledge into targeted therapies, that is, effective ways to intervene. But first we need to understand the underlying disease mechanisms."

Falk's team made use of a simple model organism often studied in biology, Ca
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SOURCE The Children's Hospital of Philadelphia
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