Developmental Problems in Genes

A recent study done by scientists based in Oxford, Bologna and Utrecht looked into the genomic characterization and DNA sequencing of a family with two rare microdeletions, in CNTNAP5 and DOCK4. This family has several members that have been diagnosed with autism, dyslexia, and/or learning or social difficulties and it is believed that these microdeletions may have led to these disorders. DNA is unique for each individual which means that it may contain variants that differ from the general population. Some of these varations are referred to as genetic deletions, this is when a section of DNA ‘code’ is missing. These missing codes have significant effects on how the gene functions and may contribute to diseases.

After looking at the genomic characterization if was found that the CNTNAP5 deletion segregated with autism and the DOCK4 deletion was found in individuals without autism yet present in those with reading difficulties. "This report provides further evidence linking CNTNAP genes with autism, one of the most promising gene families in autism research," commented Dr. John Krystal, Editor of Biological Psychiatry. It also sheds light on how complex the connection between genes and syndromes can be. Multiple rare genomic variants within a single family just might lead to the variable phenotypes phenotypes associated with autism.

I feel that research in the spectrum of autism is great thing because the disorder has become so vast that more details can only benefit the treatment of those who are diagnosed. By finding out the specific microdeletions effect on the human body can be detrimental the prevention and diagnoses of the disorder in the future. Knowing that CNTNAP5 is closely related to other genes that may influence vulnerability to autism and that DOCK4 may be involved in the growth and development of the brains nerve cells can give way to research that will help better understand the mechanisms behind these neurological disorders and brain development. The authors of this study have noted that additional studies to confirm these associations are already underway.

Article Link: http://www.sciencedaily.com/releases/2010/08/100817103344.htm

Related Link: http://ghr.nlm.nih.gov/gene/CNTNAP2