New research from the lab of Adrian Bird, a molecular geneticist at the University of Edinburgh, Scotland, reveals that abnormally high levels of a protein called Uqcrc1 in the brains of mouse models of Rett Syndrome cause mitochondria--the cells' powerhouses--to work overtime.
"This is the first time a mitochondrial gene has been linked to Rett Syndrome
," says Dr Bird
Co-author Skirmantas Kriaucionis, now at Rockefeller University
in New York City, hopes the finding will lead to treatments for the disorder.
"Knowledge of specific physiological defects will, in the future, provide targets for therapeutic intervention," he