Boys and girls are not affected equally when it comes to Autism Spectrum Disorder (ASD) – it affects four times more males than females. In their search to find genes linked to ASD, a team of international researchers led by The Hospital for Sick Children (SickKids) and McMaster University have uncovered a key genetic clue to explaining the gender bias. The study is published in the April 12 advance online edition of The American Journal of Human Genetics.
The researchers analyzed the genes of more than 1,600 people with ASD. The analysis pointed to an alteration in the SHANK1 gene. The SHANK gene family is coded for proteins involved in the formation and function of neural synapses in the brain. SHANK2 and SHANK3 genes have previously been linked to ASD and intellectual disability.
In this study, investigators also identified six people from the same family who carried the SHANK1 mutation. The most significant finding was that only the four males with the genetic change had ASD, while the female carriers did not. Another male from a different family also had a SHANK1 mutation and ASD.
“Now we have more insight as to why males could be more susceptible to ASD than females,” says Dr. Stephen Scherer, Senior Scientist and Director of The Centre for Applied Genomics at SickKids and the McLaughlin Centre at the University of Toronto. “This study indicates that there may be a protective factor preventing these female carriers from developing ASD.”
Scherer says that if researchers can determine why SHANK1 females are being protected from ASD, then this “protective factor may one day be used to prevent or treat the disorder.”
Funding was provided by the University of Toronto McLaughlin Centre, NeuroDevNet, Genome Canada/Ontario Genomics Institute, the Canadian Institutes of Health Research (CIHR), the Canadian Institute for Advanced Research (CIFAR), the Canada Foundation for Innovation, the Ontario Ministry of Economic Development and Innovation, Autism Speaks and SickKids Foundation.
Scherer holds the GlaxoSmithKline-CIHR Pathfinder Chair in Genetics and Genomics at the University of Toronto and SickKids.
About The Hospital for Sick Children
The Hospital for Sick Children (SickKids) is recognized as one of the world’s foremost paediatric health-care institutions and is Canada’s leading centre dedicated to advancing children’s health through the integration of patient care, research and education. Founded in 1875 and affiliated with the University of Toronto, SickKids is one of Canada’s most research-intensive hospitals and has generated discoveries that have helped children globally. Its mission is to provide the best in complex and specialized family-centred care; pioneer scientific and clinical advancements; share expertise; foster an academic environment that nurtures health-care professionals; and champion an accessible, comprehensive and sustainable child health system. SickKids is proud of its vision for Healthier Children. A Better World. For more information, please visit www.sickkids.ca.
About SickKids Centre for Research and Learning
The SickKids Centre for Research and Learning will bring together researchers from different scientific disciplines and a variety of clinical perspectives, to accelerate discoveries, new knowledge and their application to child health — a different concept from traditional research building designs. The facility will physically connect SickKids science, discovery and learning activities to its clinical operations. Designed by award-winning architects Diamond + Schmitt Inc. and HDR Inc. with a goal to achieve LEED® Gold Certification for sustainable design, the Centre will create an architectural landmark as the eastern gateway to Toronto’s Discovery District. The SickKids Centre for Research and Learning is funded by a grant from the Canada Foundation for Innovation, the Government of Ontario, philanthropist Peter Gilgan and community support for the ongoing fundraising campaign. For more information, please visit www.sickkidsfoundation.com/bepartofit.