Cell-type-specific profiling for autism spectrum disorders

  • Awarded: 2012
  • Award Type: Explorer
  • Award #: 265394

Genetic alterations in the tuberous sclerosis complex (TSC) genes, key mediators of protein synthesis, are strongly associated with autism spectrum disorders. Peter Sims and his colleagues at Columbia University Medical Center have developed a novel strategy for cell-type-specific profiling of protein synthesis in the brain, combining ribosome profiling with computational tools.

The researchers used this profiling strategy to study mice with genetic alterations in TSC and found that global upregulation of protein synthesis occurs in specific cell types in the brain. In addition, they discovered a set of genes that exhibit an unusually high increase in the efficiency of protein synthesis in the mutant mice.

This set of genes is enriched in transcription factors, which modulate RNA expression. This suggests a mechanism by which the regulation of protein synthesis can produce a defined program of gene expression at the RNA level.

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