Autism breakthrough.

Dr Valerie W Hu and colleagues have made a breakthrough in autism, by studying genetic expression in identical twins where only one has autism, and in identical twins with autism compared to siblings without it.

Since identical twins have the same genes, Hu was looking at epigenetics (epi meaning over or above). The team investigated differences in DNA methylation in the twins.

DNA methylation is involved in many functions including gene transcription, nervous system development, cell death/survival, and other biological processes implicated in autism. It is also known to play a role in many cancers.

Hu found 2 genes involved in this type of autism. BCL-2 was already known, but RORA is linked to autism for the first time.

Hu confirmed the genetic test by examining tissue samples from brain regions involved in autism.

Apart from finding that RORA is involved, Hu’s work opens up 2 interesting avenues.

First, the existence of a genetic test means people can be checked to see if they have this type or not, leading to appropriate personalised treatment.

Second, the DNA methylation route is already being tackled successfully in some cancers, which raises the hope that treatment can be developed to reverse this form of autism.

Hu’s work appears in the FASEB Journal.