Global differential expression of genes located in the Down Syndrome Critical Region in normal human brain

Topic: Brain proteins, microglia and lab models

Background The information of gene expression obtained from databases, have made possible the extraction and analysis of data related with several molecular processes involving not only in brain homeostasis but its disruption in some neuropathologies; principally in Down syndrome and the Alzheimer disease. Objective To correlate the levels of transcription of 19 genes located in the Down Syndrome Critical Region (DSCR) with their expression in several substructures of normal human brain. Methods There were obtained expression profiles of 19 DSCR genes in 42 brain substructures, from gene expression values available at the database of the human brain of the Brain Atlas of the Allen Institute for Brain Sciences", (http://human.brain-map.org/). The co-expression patterns of DSCR genes in brain were calculated by using multivariate statistical methods. Results Highest levels of gene expression were registered at caudate nucleus, nucleus accumbens and putamen among central areas of cerebral cortex. Increased expression levels of RCAN1 that encode by a protein involved in signal transduction process of the CNS were recorded for PCP4 that participates in the binding to calmodulin and TTC3; a protein that is associated with differentiation of neurons. That previously identified brain structures play a crucial role in the learning process, in different class of memory and in motor skills. Conclusion The precise regulation of DSCR gene expression is crucial to maintain the brain homeostasis, especially in those areas with high levels of gene expression associated with a remarkable process of learning and cognition.

@article{montoya2014-25767303,
  author  = {Montoya, J. C. and Fajardo, D. and Peña, A. and Sánchez, A. and Domínguez, M. C. and Satizábal, J. M. and García-Vallejo, F.},
  title   = {{Global differential expression of genes located in the Down Syndrome Critical Region in normal human brain}},
  journal = {Colombia medica (Cali, Colombia)},
  year    = {2014},
  doi     = {10.25100/cm.v45i4.1640},
  pmid    = {25767303},
  url     = {https://doi.org/10.25100/cm.v45i4.1640}
}

Key findings

• Results Highest levels of gene expression were registered at caudate nucleus, nucleus accumbens and putamen among central areas of cerebral cortex.
• Increased expression levels of RCAN1 that encode by a protein involved in signal transduction process of the CNS were recorded for PCP4 that participates in the binding to calmodulin and TTC3; a protein that is associated with differentiation of neurons.
• Conclusion The precise regulation of DSCR gene expression is crucial to maintain the brain homeostasis, especially in those areas with high levels of gene expression associated with a remarkable process of learning and cognition.

Why it matters

This database analysis correlated the transcription levels of 19 genes in the Down Syndrome Critical Region with their expression across 42 normal human brain substructures, finding highest expression in the caudate nucleus, nucleus accumbens, and putamen. The authors conclude that precise regulation of these genes is crucial to maintain brain homeostasis, but the study examined normal brain tissue and did not test any treatment or prevention.

Study details

• Evidence strengthLow

Read the original

• DOI: 10.25100/cm.v45i4.1640
• PubMed: 25767303
• Original source →
• Free full text: Colombia medica →

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