Three separate studies validate earlier findings on genetic causes of autismJanuary 11th, 2008 - 2:19 pm ICT by admin
Washington, January 11 (ANI): Three groups of researchers from Yale University, the University of California, Los Angeles and the Johns Hopkins University have replicated the results of a previous study, implicating a gene called CNTNAP2 in the development of the newly defined Type 1 autism.
Dr. Dietrich Stephan, Director of the Neurogenomics Division at the Translational Genomics Research Institutes (TGen), had found in 2006 that a mutation in this gene indicated a predisposition to autism in a specific population of Old Order Amish children from Pennsylvania.
Our previous finding of association between loss of CNTNAP2 function and autistic behaviour has been validated in the general population. This is a very exciting step for autism research. It also highlights the enormous potential of the small science approach, said Dr. Erik Puffenberger, Laboratory Director of the Clinic for Special Children, who was Dr. Stephans collaborator in the previous study.
Our initial work used only four affected Amish children. Careful study of these four patients uncovered the association between CNTNAP2 and autistic behaviours. From that small beginning, CNTNAP2 has now been implicated as a significant risk factor for autism, he added.
The three studies attain significance as replication is considered to be one of the most important principles in science.
The field of genetics is replete with examples where researchers are unable to reproduce results. Here we have independent confirmation in multiple groups using large samples sizes, said Dr. Stephan.
Now that the results of the initial CNTNAP2 gene finding have been replicated, it strongly supports the notion that the broken version of CNTNAP2 is recognized as a cause of autism in the general population, he added.
Researchers at TGen are now collaborating with a nonprofit community-based organization to apply these research findings to children in Arizona who have been diagnosed with ASD.
Dr. Stephan says that the next step of his team is to develop a diagnostic to test for the CNTNAP2 mutation.
According to him, children with autism might have a better chance of developing normally, if behavioural interventions could be implemented early enough.
The research has been reported in the American Journal of Human Genetics. (ANI)
- Two new genes linked to autism - May 03, 2010
- Why autism is more prevalent in boys - Sep 16, 2010
- Scientists successful in creating autism like traits in mice - Mar 22, 2011
- Do gut bacteria contribute to autism? - Jun 08, 2010
- Novel gene variants behind autism and mental retardation discovered - May 26, 2010
- For first time ever, study proves common genetic roots for autism, epilepsy - Apr 09, 2011
- Gene linked to severity of autism's social dysfunction identified - Apr 07, 2011
- Autism study reveals how genetic changes rewire the brain - Nov 04, 2010
- Answers emerge to some mysteries of autism - Oct 21, 2011
- Scientists complete whole-exome sequencing of skin cancer - Apr 16, 2011
- How a gene mutation leads to autism - Dec 17, 2010
- Scientists close to discovering genetic trigger for autism - Jun 10, 2010
- 18 genetic markers for autism spectrum disorders identified - Apr 28, 2011
- Gene linked to alcohol consumption identified - Apr 05, 2011
- Genes identified for childhood obesity - Apr 10, 2012
Tags: amish children, autism research, cause of autism, causes of autism, community based organization, genetic causes, independent confirmation, initial work, johns hopkins university, laboratory director, nonprofit community, old order amish, puffenberger, replete with examples, science approach, small science, stephans, tgen, university of california los angeles, yale university