Sunday, July 09, 2006

A deluge of research on the genetics of autism

My online blog reader (bloglines) regularly checks the RSS feed I set up on PubMed to monitor autism genetics. Today I got caught up after a missing a few weeks. Lord, what a deluge. There must be forty articles, including:
  • discussion of animal models for autism (how else to find out if deep brain stimulation would help?)
  • Pten gene deletion in the mouse activates a pathway that produces disordered neurons and dysfunctional social relations (did you say ... animal model?)
  • Yep, Pten might give us an animal model ...
  • A good review (from last year?)
    .... There is no single biological or clinical marker for autism, nor is it expected that a single gene is responsible for its expression; as many as 15+ genes may be involved. However, environmental influences are also important, as concordance in monozygotic twins is less than 100% and the phenotypic expression of the disorder varies widely, even within monozygotic twins. Multiple susceptibility factors are being explored using varied methodologies, including genome-wide linkage studies, and family- and case-control candidate gene association studies. This paper reviews what is currently known about the genetic and environmental risk factors, neuropathology, and psychopharmacology of autism. Discussion of genetic factors focuses on the findings from linkage and association studies, the results of which have implicated the involvement of nearly every chromosome in the human genome. However, the most consistently replicated linkage findings have been on chromosome 7q, 2q, and 15q. The positive associations from candidate gene studies are largely unreplicated, with the possible exceptions of the GABRB3 and serotonin transporter genes. No single region of the brain or pathophysiological mechanism has yet been identified as being associated with autism. Postmortem findings, animal models, and neuroimaging studies have focused on the cerebellum, frontal cortex, hippocampus, and especially the amygdala. The cerebello-thalamo-cortical circuit may also be influential in autism...
  • the usual mixture of articles pounding more stakes into the undead heart of the MMR/thimerasol mercury meme ...
The hounds are lusting for the fox, but there's much confusion ahead ... A mouse model for autism would be a huge boon ...

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