Featured Research

from universities, journals, and other organizations

Autism and schizophrenia: Family history may not always be a good indicator

Date:
August 27, 2010
Source:
University of Montreal
Summary:
Family history may not be a good predictor of the presence of mutations predisposing to autism or schizophrenia, a new study suggests. The findings show how new or de novo gene mutations -- alterations of the cell's DNA -- play a role in these devastating conditions.

An international study led by University of Montreal scientists suggests family history may not be a good predictor of the presence of mutations predisposing to autism or schizophrenia.

The findings show how new or de novo gene mutations -- alterations of the cell's DNA -- play a role in these devastating conditions. Published in the American Journal of Human Genetics, this study has implications for disease prevalence and severity.

"This study emphasizes the importance of de novo mutations as genetic factors predisposing to autism and schizophrenia. We found an increased frequency of severe de novo mutations in critical brain genes in both of these diseases," says senior author and University of Montreal professor, Guy Rouleau.

"Harmful de novo mutations, as observed in this study, may in part explain the high global incidences of autism and schizophrenia," adds Dr. Rouleau, who is also director of the Sainte-Justine University Hospital Research Center and a scientist at the University of Montreal Hospital Research Centre.

Investigating human mutation rate:

The team analyzed 400 genes that are turned on in nerve cells from patients with autism or schizophrenia spectrum disorders. Their results showed that there is an excess of de novo gene mutations associated with the two diseases.

Their study revealed that DNA taken directly from the patient's blood was superior to that taken from patient-derived cell lines. "The source of biological material is crucial for these types of experiments," says lead author Philip Awadalla, a University of Montreal pediatrics professor, scientist at the Sainte-Justine University Hospital Research Center and scientific director of the CARTaGENE project.

"In the process of confirming our findings, we were also able to provide one of the first direct estimates of the human mutation rate," continues Dr. Awadalla. "The number of mutations per generation is extremely small but on the order of what was previously indirectly inferred for human-chimpanzee comparisons. We also discovered that mutations can be introduced when cell lines are produced, which creates false-positive results. This artefact can significantly bias results and therefore great care needs to taken when analyzing these samples."

About de novo mutations:

Mutations are alterations of the cell's DNA that can occur because of errors in the DNA replication, which happen prior to cell division. Once DNA is changed, this mutation is passed down to a next generation. A mutation that is newly formed and therefore not inherited from either parent is called a de novo mutation.

Contributing authors of this investigation were from the Montreal Heart Institute, McGill University, North Carolina State University, Stanford University, Nathan S. Kline Institute for Psychiatric Research, Université Paris Descartes and INSERM.

This study was funded by Genome Canada, Génome Québec, the University of Montreal and the Canada Foundation for Innovation.


Story Source:

The above story is based on materials provided by University of Montreal. Note: Materials may be edited for content and length.


Journal Reference:

  1. Philip Awadalla, Julie Gauthier, Rachel A. Myers, Ferran Casals, Fadi F. Hamdan, Alexander R. Griffing, Mélanie Côté, Edouard Henrion, Dan Spiegelman, Julien Tarabeux, Amélie Piton, Yan Yang, Adam Boyko, Carlos Bustamante, Lan Xiong, Judith L. Rapoport, Anjené M. Addington, J. Lynn E. DeLisi, Marie-Odile Krebs, Ridha Joober, Bruno Millet, Éric Fombonne, Laurent Mottron, Martine Zilversmit, Jon Keebler, Hussein Daoud, Claude Marineau, Marie-Hélène Roy-Gagnon, Marie-Pierre Dubé, Adam Eyre-Walker, Pierre Drapeau, Eric A. Stone, Ronald G. Lafrenière and Guy A. Rouleau. Direct Measure of the de novo Mutation Rate in Autism and Schizophrenia cohorts. American Journal of Human Genetics, 2010; DOI: 10.1016/j.ajhg.2010.07.019

Cite This Page:

University of Montreal. "Autism and schizophrenia: Family history may not always be a good indicator." ScienceDaily. ScienceDaily, 27 August 2010. <www.sciencedaily.com/releases/2010/08/100826122610.htm>.
University of Montreal. (2010, August 27). Autism and schizophrenia: Family history may not always be a good indicator. ScienceDaily. Retrieved October 23, 2014 from www.sciencedaily.com/releases/2010/08/100826122610.htm
University of Montreal. "Autism and schizophrenia: Family history may not always be a good indicator." ScienceDaily. www.sciencedaily.com/releases/2010/08/100826122610.htm (accessed October 23, 2014).

Share This



More Health & Medicine News

Thursday, October 23, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Orthodontist Mom Jennifer Salzer on the Best Time for Braces

Orthodontist Mom Jennifer Salzer on the Best Time for Braces

Working Mother (Oct. 22, 2014) — Is your child ready? Video provided by Working Mother
Powered by NewsLook.com
U.S. Issues Ebola Travel Restrictions, Are Visa Bans Next?

U.S. Issues Ebola Travel Restrictions, Are Visa Bans Next?

Newsy (Oct. 22, 2014) — Now that the U.S. is restricting travel from West Africa, some are dropping questions about a travel ban and instead asking about visa bans. Video provided by Newsy
Powered by NewsLook.com
US to Track Everyone Coming from Ebola Nations

US to Track Everyone Coming from Ebola Nations

AP (Oct. 22, 2014) — Stepping up their vigilance against Ebola, federal authorities said Wednesday that everyone traveling into the US from Ebola-stricken nations will be monitored for symptoms for 21 days. (Oct. 22) Video provided by AP
Powered by NewsLook.com
Doctors Help Paralysed Man Walk Again, Patient in Disbelief

Doctors Help Paralysed Man Walk Again, Patient in Disbelief

AFP (Oct. 22, 2014) — Polish doctors describe how they helped a paralysed man walk again, with the patient in disbelief at the return of sensation to his legs. Duration: 1:04 Video provided by AFP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:  

Breaking News:

Strange & Offbeat Stories

 

Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:  

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile iPhone Android Web
Follow Facebook Twitter Google+
Subscribe RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins