Genotyping of autism

[CharonY]

Yesterday a paper was published that describes the use of genotyping arrays to detect genetic determinants of autism:

 

Here the abstract:

The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviours1. Individuals with an ASD vary greatly in cognitive development, which can range from above average to intellectual disability2. Although ASDs are known to be highly heritable (~90%)3, the underlying genetic determinants are still largely unknown. Here we analysed the genome-wide characteristics of rare (<1% frequency) copy number variation in ASD using dense genotyping arrays. When comparing 996 ASD individuals of European ancestry to 1,287 matched controls, cases were found to carry a higher global burden of rare, genic copy number variants (CNVs) (1.19 fold, P = 0.012), especially so for loci previously implicated in either ASD and/or intellectual disability (1.69 fold, P = 3.4 × 10-4). Among the CNVs there were numerous de novo and inherited events, sometimes in combination in a given family, implicating many novel ASD genes such as SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53–PTCHD1 locus. We also discovered an enrichment of CNVs disrupting functional gene sets involved in cellular proliferation, projection and motility, and GTPase/Ras signalling. Our results reveal many new genetic and functional targets in ASD that may lead to final connected pathways.

 

Pinto et al. Nature (2010) (online)

 

One interesting finding is that no single locus was found to be responsible for the condition, but that many pathways are involved. However, the identification of these pathways may prove to be crucial for the understanding of the underlying mechanisms.

[Cap'n Refsmmat]

One interesting finding is that no single locus was found to be responsible for the condition, but that many pathways are involved. However, the identification of these pathways may prove to be crucial for the understanding of the underlying mechanisms.

 

I'm not surprised. Autism is such a broad condition that I'm sure there are numerous different ways to be diagnosed with it. However, understanding what leads to it will certainly help provide cures.

 

Now that research like this has turned up, why aren't anti-MMR campaigners driving donations to support further research along these lines? Unlike the assorted weird untested remedies that have popped up for autism, this shows genuine progress in understanding the disorder, and real potential in stopping it.

 

Or is it not worth fighting for something when the Big Evil Pharmaceutical Companies aren't out to stop you?