Source: Neurosciencenews – https://neurosciencenews.com/asd-genetics-21814/

Researchers have identified 134 genes associated with autism and a variety of genetic alterations associated with ASD. In particular, the study identified changes in copy number variations with likely associations with ASD, including variants associated with autism in 14% from people on the autism spectrum.

Source: Hospital for Sick Children

Researchers at the Hospital for Sick Children (SickKids) have discovered new genes and genetic changes associated with autism spectrum disorder (ASD) in the largest whole-genome sequencing analysis of autism to date, providing a better understanding of the " genomic architecture” underlying this disorder.

The study, published in the journal Cell, used whole genome sequencing (WGS) to examine the complete genomes of more than 7,000 people with autism, as well as an additional 13,000 siblings and relatives.

The team found 134 ASD-related genes and discovered a variety of genetic changes, particularly gene copy number variations (CNVs), that are likely associated with autism, including rare variants associated with ASD in about 14 percent of participants with autism.

Most of the data was drawn from the Autism Speaks MSSNG database, the world's largest autism whole genome dataset, which provides autism researchers with free and open access to thousands of sequenced genomes.

“By sequencing the full genome of all participants, and with deep involvement of MSSNG participating families in shaping our research priorities, we maximize discovery potential and enable analysis spanning all variant types, from from the smallest DNA changes to those that affect entire chromosomes,” says Dr. Stephen Scherer, Principal Scientist, Genetics and Genome Biology and Head of Research at SickKids and Director of the McLaughlin Center at the University of Toronto.

Dr. Brett Trost, lead author of the paper and a Research Associate in SickKids' Genetics and Genome Biology program, notes that using WGS enabled researchers to discover types of variants that otherwise would not have been detectable.

These types of variants include complex DNA rearrangements as well as tandem repeat expansions, a finding supported by recent SickKids research into the link between autism and highly repeating segments of DNA.

The role of maternally inherited mitochondrial DNA was also examined in the study and found to account for two percent of autism.

The paper also points out important nuances in the genetics of autism in families with a single individual with autism compared with families that have multiple individuals with autism, known as multiplex families.

Surprising to the team was that the "polygenic score," an estimate of the probability that an individual will have autism, calculated by aggregating the effects of thousands of common variants across the genome, was not higher among multiplex families.

“This suggests that autism in multiplex families is more likely to be related to rare and high-impact variants inherited from a parent. Because both the genetics and clinical traits associated with autism are so complex and varied, large data sets like the ones we use are critical to providing researchers with a clearer understanding of the genetic architecture of autism," says Trost.

The research team says the study data may help further research into the variety of variants that might be linked to ASD, as well as efforts to better understand the contributors to the 85 percent of autistic people for whom the genetic cause remains unresolved.

In a linked study of 325 families with ASD from Newfoundland published earlier this month in Nature Communications, Dr. Scherer's team discovered that combinations of spontaneous genetic, rare inherited, and polygenic factors coming together in the same individual can potentially lead to different autism subtypes.

Suzanne Lewis, a BC Children's Hospital Research Institute geneticist and researcher who diagnosed many of the families enrolled in the study, said: "Collectively, these latest findings represent a major step forward in better understanding the complex genetic and biological circuitry associated with ASDs. .

"This rich data set also offers the opportunity to further examine other factors that may determine an individual's likelihood of developing this complex condition to help individualize future treatment approaches."

Financing: Funding for this study was provided by the McLaughlin Center at the University of Toronto, Genome Canada/Ontario Genomics, Genome BC, Government of Ontario, Canadian Institutes for Health Research, Canadian Foundation for Innovation, Autism Speaks, Autism Speaks Canada, Brain Child, Kids Brain Health Network, Qatar National Research Fund, Ontario Brain Institute, SFARI, and SickKids Foundation.

Still don't know 𝗘𝗡𝗘𝗩𝗜𝗔 𝗛𝗘𝗔𝗟𝗧𝗛?

𝗘𝗻𝗲𝘃𝗶𝗮 𝗛𝗲𝗮𝗹𝘁𝗵 It is the first website specialized in neurodevelopmental pathologies, where you will find 𝗺𝗮𝗺𝗮 𝟭𝟬𝟬𝘁𝗲𝘀𝘁 𝗱𝗲 𝗹𝗮𝗯𝗼𝗿𝗮𝘁𝗼𝗿𝗶𝗼 𝗺á𝘀 𝗱𝗲 𝟮𝟬 𝗹𝗮𝗯𝗼𝗿𝗮𝘁𝗼𝗿𝗶𝗼𝘀ñ𝗮, 𝗘𝘂𝗿𝗼𝗽𝗮 𝘆 𝗨𝗦𝗔 𝗨𝗦𝗔 𝗨𝗦𝗔 𝗨𝗦𝗔 𝗨𝗦𝗔 𝗽𝗿𝗲𝗰𝗶𝗼𝘀 𝗱𝗲 𝗺𝗮𝘆𝗼𝗿𝗶𝘀𝘁𝗮 𝗺𝗮𝘆𝗼𝗿𝗶𝘀𝘁𝗮 𝗨𝗦𝗔 𝗨𝗦𝗔 𝗨𝗦𝗔 𝗨𝗦𝗔 𝘆 𝘆 𝘆 𝘆 𝘆 𝘆 𝘆 𝘆 𝘆 𝘆 𝘆 

For more information visit the Enevia Health website 

YouTube channel: https://www.youtube.com/c/EneviaHealthSL

Facebook: https://www.facebook.com/eneviahealth

Instagram: @enevia_health

#eneviahealth #neurodevelopment #infant neurodevelopment #autism #autism 1TP4Infant tautism