Driving Mechanism of Autism Identified!

Causal gene in autism model mice that have the chromosomal abnormality called copy number variation has been uncovered by a study at the Kobe University, published in the journal Nature Communications.

Autism spectrum disorder (ASD) is a broad spectrum of disorders due to neurodevelopmental delay. It is primarily characterized by social, communication, and behavioral challenges.

‘Causal gene in autism model mice that have the chromosomal abnormality called copy number variation � NDN gene. This helps formulate new treatment strategies for developmental disorders including autism.’

Autism spectrum disorder has witnessed a dramatically increased incidence from 1 in 5,000 people in 1975 to 1 in 68 in 2014. Although the autism cases have been greatly increased, several aspects of this developmental disorder are hidden beyond exploration.

The Causal Gene

The study team conducted a screening test based on synaptic expression in an animal model of the disorder (15q dup mouse). A specific gene called "Ndn" was identified as a causal gene of autism. This gene is responsible for regulating the synapse development during the developmental stage.

The team previously had succeeded in developing a mouse model of 15q11-q13 duplication (15q dup mouse). The exact gene responsible for autism-like behavior in this region was difficult to understand as it contains many non-coding RNA molecules and genes that code proteins.

Artificial regulation of these functions or identifying and controlling their downstream factors helps the researchers to understand the onset mechanism of developmental disorders like autism. They further hope to clarify the NDN gene's functions for contributing to the development of new treatment strategies.

Source: Medindia