ASD genetics uncovered
30 April 2009
This is a step in the right direction as research is critical, but it needs to be geared towards early diagnosis and treatment. Early diagnosis will help ensure people get the right help for their needs. 
Geoffrey Maddrell, spokesman for Research Autism
Research published in the journal Nature may help reveal the genetic factors involved in autistic spectrum disorders (ASDs) development.
The National Autistic Society "warmly welcome this authoritative research which might add to our knowledge and understanding of autism, and which could therefore benefit the half a million people with autism in the UK."
Scientists from the Centre for Applied Genomics at the Children's Hospital of Philadelphia have published two papers outlining sections of DNA that seem to be linked to ASDs.
The first study involved two cohort groups of 3,101 people with ASDs and 6,491 in a control group. The group with autism were diagnosed using the Autism Diagnosis Interview-Revised (ADI-R) and Autism Diagnosis Observation Schedule (ADOR).
The researchers found that there were six different sections of DNA between two genes called cadherin 9 (CDH9) and cadherin 10 (CDH10), that may factor in ASDs. These sections are thought to regulate how cells stick together and how cells in the brain develop.
The most significant section, called SNP rs2032597, is found in an area called ubiquitin specific protease 9 Y linked. This area is only present in men as it is linked to the Y chromosome.
DNA is coded using a series of letters. Different sequences mean different proteins are produced which affect the body. There are a number of different codes, or copy number variations (CNV), that can occur.
The researchers found in a separate study that there were 227 distinct types of code (CNV) found in people with ASDs that were not found in people without ASDs. These sections are also thought to be involved in the way the nerve cells stick together and regulate the protein ubiquitin.
Some 859 children with ASDs and 1,409 children without ASDs were involved in this second study.
The National Autistic Society spokesperson added: "There is evidence to suggest that genetic factors are responsible for some forms of autism. However, the difficulty of establishing gene involvement is compounded by the interaction of genes and by their interaction with environmental factors".
Geoffrey Maddrell, spokesman for Research Autism told the health information team: "This is a step in the right direction as research is critical, but it needs to be geared towards early diagnosis and treatment. Early diagnosis will help ensure people get the right help for their needs."
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