Retrotransposon activity could be one cause of the movement disorder ataxia, a study published on September 6 in Neuron suggests. These so-called jumping genes have the ability to create copies of themselves, which then insert in new places in the genome, potentially altering genes or gene expression. The researchers found that overactivating retrotransposons called LINE-1 elements in the cerebellums of mice gave the animals problems with movement and other symptoms of ataxia, a disorder that affects balance and speech in humans. The team also found increased activity of these retrotransposons in the cerebella of patients with an inherited form of the condition.
This research “is adding to the idea of a really important role of LINE-1 in neurodegenerative diseases. And not only as a bystander, but as a potential driver,” says Julia Fuchs, a physician researcher at the College de France who studies the pathophysiology of transposable elements in the ...
