Tiny But Mighty: Gene Fragments and Autism Spectrum Disorder

Author: Anastasiya Maryukova Pankin

Institution:  University of Toronto


Anastasiya Maryukova Pankin is in her final year of English undergrad at University of Toronto. She enjoys writing poetry as much as she likes writing about cool science stuff. 

Autism is a disorder that affects many children, but very little is known about its cause and development. A new study, conducted by University of Toronto researchers, sheds light on poorly understood tiny gene fragments, called microexons, and their vital role in neuronfunction. Manuel Irimia, a post-doctoral fellow at University of Toronto, and Benjamin Blencowe, a professor at the Donnelly Centre for Cellular and Biomolecular Research, led the study.

Their findings were published in The Cell journal in late December 2014, linking microexons to altered brain development in individuals with autism spectrum disorder.  Before the study, only small numbers of these microexons were known, and the researchers were able to identify hundreds of new ones.

Essential for neuron regulation, microexons are tiny gene fragments, which are spliced into gene messengers known as mRNAs.  The team discovered the absence of many microexons in the genetic structure by analyzing samples of brain tissues in the lab from individuals with autism in They found that microexons determined how neurons in the brain functioned, and if microexons were absent, the neurons had difficulty interacting with each other.

Blencowe and his team used massive amounts of data to search for these neurons. The researchers discovered that they are primarily detected in the nervous system and regulated in a specific manner. This tidbit of information is what was missing from the picture, according to Blencowe.

He also believes that the role played by microexons has been underestimated. The study presented a major step forward. Blencowe is certain it opened up the possibility for future research into the development of autism.

Blencowe is optimistic about the implications of this discovery for potential therapeutic value. He says in a press release: “While a lot more work has to be done to understand the functions of microexons in the nervous system, we were amazed by the extent to which microexons are misregulated in people with autism, which suggests they are an important component of this neurological disorder.”

This news brief was developed under the guidance of Science Writing Mentor Brian Clark Howard.

Photo: http://i.huffpost.com/gen/1105805/thumbs/o-COMMUNICATING-WITH-KIDS-WITH-AUTISM-facebook.jpg (Huffington Post)