‘Mini-gene’ therapy relieves features of Rett syndrome in mice

Delivering a fragment of the Rett syndrome gene, MECP2, into neurons eases features of the syndrome in mice, according to a new study by Adrian Bird of the Patrick Wild Centre and Stuart Cobb of the University of Glasgow which appeared in the journal Nature.

The MECP2 protein is a master regulator of other genes, and a lack of it leads to Rett syndrome. A portion of the protein is known to play a critical role in regulating other genes. Activating a ‘mini-gene’ that encodes only this portion in mice that lack MECP2 alleviates motor problems and underactivity, the researchers found. The findings bolster the notion that gene therapy might ease features of Rett syndrome in people with the condition.

Rett syndrome is a rare condition characterised by intellectual disability, motor problems and often autism. It stems from mutations that lead to low levels of functional MECP2 protein. Having too much MECP2 leads to another condition with similar features. This means interventions aimed at boosting the protein must operate in a narrow window. According to Adrian Bird, the mini-gene therapy approach could give scientists more control over levels of MECP2.

More information:

Rett Syndrome Research Trust

Spectrum