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Genetic
alterations in shared biological pathways identified as major risk factor for
Autism Spectrum Disorder
Genetic
alterations in shared biological pathways identified as major risk factor for
Autism Spectrum Disorder
Date:
April 24,
2014
Source:
Mount Sinai Medical Center
Summary:
A substantial proportion of risk for developing autism
spectrum disorders (ASD) resides in genes that are part of specific,
interconnected biological pathways, according to researchers who conducted a
broad study of almost 2,500 families in the United States and throughout the
world. ASD affects about one percent of the population in the United States and
is characterized by impairments in social interaction and communication, as
well as by repetitive and restricted behaviors. ASD ranges from mild to severe
levels of impairment, with cognitive function among individuals from above average
to intellectual disability.
.....................
A substantial proportion of risk for developing autism
spectrum disorders (ASD), resides in genes that are part of specific,
interconnected biological pathways, according to researchers from the Icahn School
of Medicine at Mount Sinai, who conducted a broad study of almost 2,500
families in the United States and throughout the world. The study, titled
"Convergence of Genes and Cellular Pathways Dysregulated in Autism
Spectrum Disorders," was first published online in The American Journal of Human
Genetics on April 24.
ASD affects
about one percent of the population in the United States and is characterized
by impairments in social interaction and communication, as well as by
repetitive and restricted behaviors. ASD ranges from mild to severe levels of
impairment, with cognitive function among individuals from above average to
intellectual disability.
Previously,
ASD has been shown to be highly inheritable, and genomic studies have revealed
that that there are various sources of risk for ASD, including large
abnormalities in whole chromosomes, deletions or duplications in sections of
DNA -- called copy number variants (CNVs), and even changes of single
nucleotides (SNVs) within a gene; genes contain instructions to produce
proteins that have various functions in the cell.
The
researchers reported numerous CNVs affecting genes, and found that these genes
are part of similar cellular pathways involved in brain development, synapse
function and chromatin regulation. Individuals with ASD carried more of these
CNVs than individuals in the control group, and some of them were inherited
while others were only present in offspring with ASD.
An earlier
study, results of which were first published in 2010, highlighted a subset of
these findings within a cohort of approximately 1,000 families in the U.S. and
Europe; this larger study has expanded that cohort to nearly 2,500 families,
each comprising "trios" of two parents and one child. By further
aggregating CNVs and SNVs (the latter identified in other studies), Mount Sinai
researchers discovered many additional genes and pathways involved in ASD.
"We
hope that these new findings will help group individuals with ASD based upon
their genetic causes and lead to earlier diagnosis, and smarter, more focused
therapies and interventions for autism spectrum disorders," said first
author Dalila Pinto, PhD, Assistant Professor of Psychiatry, and Genetics and
Genomic Sciences at the Icahn School of Medicine at Mount Sinai.
Story Source:
The above
story is based on materials provided by Mount Sinai Medical Center. Note: Materials may
be edited for content and length.
Journal
Reference:
- Dalila Pinto, Elsa Delaby, Daniele Merico, Mafalda Barbosa, Alison Merikangas, Lambertus Klei, Bhooma Thiruvahindrapuram, Xiao Xu, Robert Ziman, Zhuozhi Wang, Jacob A.S. Vorstman, Ann Thompson, Regina Regan, Marion Pilorge, Giovanna Pellecchia, Alistair T. Pagnamenta, Bárbara Oliveira, Christian R. Marshall, Tiago R. Magalhaes, Jennifer K. Lowe, Jennifer L. Howe, Anthony J. Griswold, John Gilbert, Eftichia Duketis, Beth A. Dombroski, Maretha V. De Jonge, Michael Cuccaro, Emily L. Crawford, Catarina T. Correia, Judith Conroy, Inês C. Conceição, Andreas G. Chiocchetti, Jillian P. Casey, Guiqing Cai, Christelle Cabrol, Nadia Bolshakova, Elena Bacchelli, Richard Anney, Steven Gallinger, Michelle Cotterchio, Graham Casey, Lonnie Zwaigenbaum, Kerstin Wittemeyer, Kirsty Wing, Simon Wallace, Herman van Engeland, Ana Tryfon, Susanne Thomson, Latha Soorya, Bernadette Rogé, Wendy Roberts, Fritz Poustka, Susana Mouga, Nancy Minshew, L. Alison McInnes, Susan G. McGrew, Catherine Lord, Marion Leboyer, Ann S. Le Couteur, Alexander Kolevzon, Patricia Jiménez González, Suma Jacob, Richard Holt, Stephen Guter, Jonathan Green, Andrew Green, Christopher Gillberg, Bridget A. Fernandez, Frederico Duque, Richard Delorme, Geraldine Dawson, Pauline Chaste, Cátia Café, Sean Brennan, Thomas Bourgeron, Patrick F. Bolton, Sven Bölte, Raphael Bernier, Gillian Baird, Anthony J. Bailey, Evdokia Anagnostou, Joana Almeida, Ellen M. Wijsman, Veronica J. Vieland, Astrid M. Vicente, Gerard D. Schellenberg, Margaret Pericak-Vance, Andrew D. Paterson, Jeremy R. Parr, Guiomar Oliveira, John I. Nurnberger, Anthony P. Monaco, Elena Maestrini, Sabine M. Klauck, Hakon Hakonarson, Jonathan L. Haines, Daniel H. Geschwind, Christine M. Freitag, Susan E. Folstein, Sean Ennis, Hilary Coon, Agatino Battaglia, Peter Szatmari, James S. Sutcliffe, Joachim Hallmayer, Michael Gill, Edwin H. Cook, Joseph D. Buxbaum, Bernie Devlin, Louise Gallagher, Catalina Betancur, Stephen W. Scherer. Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders. The American Journal of Human Genetics, 2014; DOI: 10.1016/j.ajhg.2014.03.018
Cite This
Page:
Mount Sinai Medical Center.
"Genetic alterations in shared biological pathways identified as major
risk factor for Autism Spectrum Disorder." ScienceDaily. ScienceDaily, 24
April 2014. <www.sciencedaily.com/releases/2014/04/140424161533.htm>.
