The neurons of people with Rett syndrome contain an overabundance of retrotransposons — DNA sequences that copy and insert themselves into new spots throughout the genome — during early development, according to a study published 18 November in Nature.

Retrotransposons, also known as 'jumping genes,' make up nearly half of the mammalian genome. Long labeled as 'junk DNA,' these genes may have a biological function and influence disease, say researchers.

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Image courtesy of Alysson Muotri.

A controversial new approach that quiets the activity of certain neurons in the brain alleviates breathing difficulties in a mouse model of Rett syndrome, according to a study published 4 October in the Proceedings of the National Academy of Sciences.

Rett syndrome, a rare neurodevelopmental disorder diagnosed almost exclusively in girls, shares some features of autism.

Besides loss of speech and motor skills, children with Rett syndrome often have irregular breathing: they often hold their breath, hyperventilate or swallow air.

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Researchers have developed the first stem cell system that makes it possible to study the early development of neurons from people with Rett syndrome, a rare disorder on the autism spectrum.

With the approach, reported 12 November in Cell, the scientists show that stem cells derived from the skin of people with Rett  syndrome generate fewer functional neurons than do those from healthy individuals.

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Image courtesy of Carol Marchetto and Alysson Muotri.