Leigh's Syndrome News and Research

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Researchers study about abnormal gene functioning in mitochondria

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.

25 Sep 2009

Study on mitochondria function

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."

25 Sep 2009

Discovery of a genetic mutation underlying late-onset Leigh syndrome

Researchers at the Montreal Neurological Institute and Hospital (The Neuro), McGill University have discovered a genetic mutation underlying late-onset Leigh syndrome, a rare inherited metabolic disorder characterized by the degeneration of the central nervous system.

11 Aug 2009

Zebrafish shed light on human mitochondrial diseases

Zebrafish can now be used to study COX deficiencies in humans, a discovery that gives scientists an unprecedented window to view the earliest stages of mitochondrial impairments that lead to potentially fatal metabolic disorders, according to researchers at the University of Oregon.

13 Sep 2007

Babe on life support granted a reprieve

A judge in Texas has granted a family's request to keep their critically ill baby alive and ruled against the hospital's wishes, that his life support should not be switched off.

11 Apr 2007