Sunday, November 18, 2007

Abnormal glutamine repeats interfere with key transcription factor, leading to neurodegeneration

Although repeating sequences of three nucleotides encoding some of the bodies' 20 amino acids are a normal part of protein composition, abnormal expansion of trinucleotide repeats is the known cause of multiple inherited neurodegenerative disorders, including Huntington disease.

Scientists at Emory University School of Medicine, in research with mice, now have discovered more specific information about how this inherited expansion of a normal repeated DNA sequence alters gene expression. The research is reported online in the journal Nature Neuroscience.

The inherited diseases caused by an abnormal number of glutamine repeats (generally, more than 37) are known as polyglutamine, or PolyQ diseases. The diseases lead to a progressive degeneration of nerve cells usually affecting people later in life. Although these diseases share the same abnormal expansion of the repeated glutamine sequence and some symptoms, the repeats for the different PolyQ diseases occur in genes on different chromosomes.

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