Failure of neuronal homeostasis results in common neuropsychiatric phenotypes

Melissa B. Ramocki and Huda Y. Zoghbi
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Melissa B. Ramocki: Section of Pediatric Neurology and Developmental Neuroscience, Baylor College of Medicine, 1 Baylor Plaza, MS 225, BCMT-T807
Huda Y. Zoghbi: Section of Pediatric Neurology and Developmental Neuroscience, Baylor College of Medicine, 1 Baylor Plaza, MS 225, BCMT-T807

Nature, 2008, vol. 455, issue 7215, 912-918

Abstract: Abstract Failure of normal brain development leads to mental retardation or autism in about 3% of children. Many genes integral to pathways by which synaptic modification and the remodelling of neuronal networks mediate cognitive and social development have been identified, usually through loss of function. Evidence is accumulating, however, that either loss or gain of molecular functions can be deleterious to the nervous system. Copy-number variation, regulation of gene expression by non-coding RNAs and epigenetic changes are all mechanisms by which altered gene dosage can cause the failure of neuronal homeostasis.

Date: 2008
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DOI: 10.1038/nature07457

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