Huge Leap Forward In Understanding Autism: 18 New Genes Identified


After years of arduous study, scientists are still uncovering new elements that help shed light on this condition and its developmental patterns. The latest genetic analysis revealed 18 additional genes linked to the onset of autism, expanding the knowledge on this affliction's genetic origin.

The research, carried out by Autism Speaks, unraveled autism symptoms are often triggered by a series of unique genetic mutations, present in large numbers in each individual — on average 73 mutations per case. Scientists note some of these DNA changes might be altered through medication and highlight that mutation patterns are unique in each person with autism.

In essence, the new study comprised the DNA scan of over 5,000 people, targeting the genome analysis of 2,600 children diagnosed with autism, as well as their families'. Part of the Autism Speaks MSSNG project, the research stands out as the largest whole genome study of autism to date.

Featured in the Journal Nature Neuroscience, the research pinpoints 18 unknown genetic variations found to increase the risk of autism. This discovery is an undeniable breakthrough, considering every newly identified gene offers hope to autism patients.

"With each new gene discovery, we're able to explain more cases of autism, each with its own set of behavioral effects and many with associated medical concerns," points out in a statement Mathew Pletcher, Autism Speaks' vice president for genomic discovery.

New Clues Into Autism Spectrum

Upon scrutinizing the entire DNA sequence in a cell, the team was able to analyze the disparities that occurred from one person to another. They then discovered that all of the 18 new genes associated with autism play an active part in brain cell communication.

After laborious investigations, researchers reached the conclusion that some DNA changes affect the genes directly (with large numbers of mutations targeting a single gene), while other alterations influence the genes' activation.

This suggests the genetic predisposition to autism may vary for each individual case, supporting the team's previous findings that genetic mutations differ even among siblings with autism.

According to senior author Dr Stephen Scherer, from The Centre for Applied Genomics at Toronto's Hospital for Sick Children, the study's extensive database facilitates a more comprehensive examination of the entire autism spectrum, which ranges from mild social awkwardness, including Asperger's syndrome, to profound mental retardation, debilitating repetitive behaviors, and an inability to communicate.

As many cases showed, some of the studied genetic mutations were identified in families with members affected by autism to various degrees. Typically, one person had a more severe form of the condition, while the others were experiencing milder symptoms.

This speaks to the neurodiversity found in the autism spectrum, Scherer indicates, adding the wide MSSNG database enabled them to also identify "resilient individuals who carry autism-associated gene variations without developing autism".

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