Gene expression profiling of lymphoblastoid cell lines from monozygotic twins discordant in severity of autism reveals differential regulation of neurologically relevant genes. Hu VW, Frank BC, Heine S, Lee NH, Quackenbush J. BMC Genomics. 2006 May 18;7:118.Well, there's a lot here. For starters, this was published not in a traditional journal, but rather on BioMed Central -- very cutting edge. Secondly, it begins with a very concise and quite excellent definition of autism spectrum disorder. Thirdly, we see again that twins who share the same genes may regulate gene expression them very differently, and thus become quite different people. Why do they express genes differently? Ahh, that's the next level of the great game.
BACKGROUND: The autism spectrum encompasses a set of complex multigenic developmental disorders that severely impact the development of language, non-verbal communication, and social skills, and are associated with odd, stereotyped, repetitive behavior and restricted interests...
RESULTS: Here we demonstrate, for the first time, that lymphoblastoid cell lines from monozygotic twins discordant with respect to severity of autism and/or language impairment exhibit differential gene expression patterns on DNA microarrays. Furthermore, we show that genes important to the development, structure, and/or function of the nervous system are among the most differentially expressed genes, and that many of these genes map closely in silico to chromosomal regions containing previously reported autism candidate genes or quantitative trait loci.
CONCLUSION: Our results provide evidence that novel candidate genes for autism may be differentially expressed in lymphoid cell lines from individuals with autism spectrum disorders. This finding further suggests the possibility of developing a molecular screen for autism based on expressed biomarkers in peripheral blood lymphocytes, an easily accessible tissue. In addition, gene networks are identified that may play a role in the pathophysiology of autism.
Fourthly, there's a prospect for using microarrays to study gene expression using blood samples in autism -- a great research tool. Lastly, the rate of progress in the last year is breathtaking.
This, of course, does not translate into therapy, management, optimization or prevention ... yet.