Varying mutations lead to varying outcomes
Each and every autism person has a similar set of symptoms but the spectrum is still so vast that the exact severity of a particular set of symptoms is never the same in two people, much like fingerprints. Researchers have now started to look deeper into this mystery to unearth answers to unlocking to autism riddle. This week Nature Neuroscience journal published findings from a group of scientists from the Columbia University Medical Center. The team of investigators lead by Dr. Vitkup pooled in and analyzed almost 1000 genes to discover how individual traits could be traced out to various genetic mutations.
Dr. Vitkup and his team identified numerous genes that if mutated would increase the chances of an ASD. The team observed that the severer the mutation, the worse the outcome. They concluded that children with high-functioning autism had only partially mutated genes or milder mutations compared to low-verbal or nonverbal IQ autism persons.
Gender bias was identified too. Women tended to have lesser autism spectrum disorders than their male counterparts, but when they did, it was on the severe side of the spectrum. The genes in these women tended to be almost twice as active as the normal genes.
The team also identified that autism genes affected and disrupted activity in multiple brain cell types. That is how the high amount of symptom variability is noted in person across the autism spectrum, the team explained. They found strong effects on the neurons that control repetitive motions and behaviors.
These findings are like a ‘coming of age’ for autism research.
Researchers identify ways to recognize and interpret brain impulses
A large amount of research is being carried out over a variable number of aspects of autism spectrum disorders across the globe. Now, researchers from the University College London have invented a way to ‘read’ and ‘write’ signals of the brain. The innovative technique was published in Nature Methods this week and boasts of cutting edge technology applied to medical research to crack clues to this mysterious medical condition.
Lead by Professor Michael Hausser, a team of biomedical scientists figured out a way to light up brain cells. They managed to not just engineer the neurons such that they light up when active but also command and control them to understand better their functioning. All this is an effort in understanding how the brain responds to various activities and apply this information to solving conditions like autism, Asperger’s syndrome, etc. where social skills tend to be affected.
They split up beams of light to activate neurons of their choice that allowed them to observe functioning of hundreds of neurons at the same time, allowing them to ‘get to know them’ literally. They could create patterns of activation and measure the way the circuit responded with this breakthrough new technology.
The scientists are keen to employ this technique to multiple other sets of neurons and understand how the brain stores and interprets information it gathers from its surroundings.