Researchers from the laboratory of Adrian Bird, a molecular geneticist at the University of Edinburgh, Scotland, had announced on 23rd June// that the abnormally high levels of a protein called Uqcrc1 in the brains of mouse used as models of Rett Syndrome is causing its mitochondria, which are the powerhouses of the cells to work overtime. Dr. Bird stated that this is the first time that mitochondrial gene has been linked to Rett Syndrome. The co-author of the study Skirmantas Kriaucionis, who is now attached with the Rockefeller University in New York City, hopes that these finding will lead to treatments for the disorder. He said, “Knowledge of specific physiological defects will, in the future, provide targets for therapeutic intervention”. The research, appears in the July issue of the journal Molecular and Cellular Biology, is being funded partly by the Rett Syndrome Research Foundation.

Rett Syndrome (RTT), a devastating neurological disorder, strikes 1 in 10,000 young children, almost all of them girls. In fact, RTT is the leading genetic cause of severe impairment in girls. Symptoms include neuromuscular problems, autonomic dysregulation, seizures and seizure-like episodes, stereotypical hand movements and the inability to speak. Many children are wheelchair-bound, scoliosis is common, and though the majority live to adulthood, they require total care for every aspect of life.

RTT, which is an autism-spectrum disorder, is caused by mutations in a gene called MECP2. Previous research has shown that the protein made by MECP2 is a master controller of other genes, turning them on and off, and scientists have been searching for these genes. Several have been identified, the best known being brain-derived neurotrophic factor, or BDNF, which normally promotes neuronal growth. To find other genes that MECP2 controls, Bird, Kriaucionis, and other colleagues turned to male mice in which MECP2 has been “knocked out”, meaning they lack the prote
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