Autism Research: 19 Dec, 2014 Week In Review


Master Controller gene for autism identified

In a path breaking new study, researchers from NYU Langone Medical Centre have identified the master gene that stimulates and controls many other genes. In early brain development. Published in this week’s issue of the journal Nature, the study was lead by Danny Reinberg. He and his team found that chemical alterations to DNA can either suppress or stimulate genes that are involved in brain development and autism spectrum disorders. Instead of repressing a gene by blocking a particular protein complex, these epigenetic changes lead to gene activation instead. The scientists are hopeful that their theory of old brain pathways controlling widespread changes in the brain in ASDs leads to greater insight into the condition with progress to targeted drug therapy.

Slicing enzyme that trims neurons for optimal functioning discovered

Researchers from the prestigious Yale School of Medicine have identified a new enzyme that slices and shapes brain cells along with aiding replenishment of neurons. The findings of the study led by Ketu Mishra Gorur were published this week in the Neuron. The team’s findings help understand better the molecular pathways of the brain that drive neurodevelopmental conditions. They found 5 severe mutations of the KATNB1 gene in children with neurodevelopmental disorders. The gene is responsible in trimming neurons to maintain optimal structure for functioning and division.

Tiny genetic fragments associated with brain development discovered

Researchers from the University of Toronto have discovered extremely minute fragments of genes termed as ‘microexons’. They influence interaction of proteins in the nervous system. The findings were published this week in the journal Cell. The study led by Benjamin Blencowe and his colleagues has thrown open the doors of a whole new field in research into the mysteries of what causes autism. They also discovered that many of these microexons were showing dysregulation in individuals with autism, confirming their role in autism. The team found that these microexons played extremely conservative yet functional roles in mice as well as human nervous systems.

Deep learning unravels unexpected genetic heritage for autism

Harnessing the power of computational technology, Brendan Frey has come up with a unique way to rank gene mutations that will be able to determine which genetic mutation will cause what disease. Published in this week’s issue of Science journal, the Canadian researcher from University of Toronto employed genomic sequencing methods to arrive at unexpected answers to determinants of spinal muscular atrophy, hereditary cancers and even autism. His team taught a computer to read DNA the way our bodies do by a new technique called ‘deep learning’.

Fine air pollution particles associated with higher risks for autism

Researchers from the Harvard School of Public Health have corroborated what so many researchers have been saying in the past few years. The team led by Marc Weisskopf from the prestigious university published its findings in Environmental Health Perspectives journal. The team found that exposure to high levels of fine air pollution during pregnancy, especially the third term, led to a two fold risk of child being diagnosed with autism later. They said, the higher the exposure, the greater the risk was.