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Open AccessHypothesis

Individual Copy Number of Ribosomal Genes as a Factor of Mental Retardation and Autism Risk and Severity

Research Centre for Medical Genetics, 1 Moskvorechie str., Moscow 115478, Russia
Cells 2019, 8(10), 1151;
Received: 5 September 2019 / Revised: 21 September 2019 / Accepted: 24 September 2019 / Published: 26 September 2019
(This article belongs to the Special Issue Ribosome Biogenesis in Health and Disease)
Autism is a complex multifactorial developmental disorder characterized by deficits in communication and restricted interests, often followed by mental retardation. Autism spectrum disorders (ASD) are caused by defects in miscellaneous molecular mechanisms, many of which remain unclear. But a considerable part of the known pathways converges on protein synthesis or degradation processes at different stages in the dendrites, laying the foundation for a concept of disturbed “translational homeostasis” or “proteostasis” in autism. The protein synthesis is conducted on ribosomes, cellular organelles consisting from a complex of riboproteins and a ribosomal RNA (rRNA) framework. The rRNA is encoded by ribosomal genes (RG) existing in multiple copies in the genome. The more copies of RG that are contained in the genome, the higher is the peak (maximum possible) ribosome abundance in the cell. A hypothesis is proposed that the RG copy number, through determining the quantity of ribosomes available in the dendrites, modulates the level of local dendritic translation and thus is a factor of risk and severity of a series of neuropsychiatric disorders caused by aberrant dendritic translation. A carrier of very low copy number of ribosomal genes is expected to have a milder form of ASD than a subject with the same epigenetic and genetic background, but a higher ribosomal gene dosage. Various ways of evaluation and testing the hypothesis on clinical material and animal models are suggested. View Full-Text
Keywords: autism; ribosome; rDNA; ribosomal gene; TSC; copy number autism; ribosome; rDNA; ribosomal gene; TSC; copy number
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Porokhovnik, L. Individual Copy Number of Ribosomal Genes as a Factor of Mental Retardation and Autism Risk and Severity. Cells 2019, 8, 1151.

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