Genomic Variation, Evolvability, and the Paradox of Mental Illness
| Autor: | Camillo Thomas Gualtieri |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
lcsh:RC435-571
genomic variability autism Biology evolvability 03 medical and health sciences neural Darwinism 0302 clinical medicine Missing heritability problem lcsh:Psychiatry Hypothesis and Theory Intellectual disability medicine Copy-number variation 030304 developmental biology Psychiatry 0303 health sciences Natural selection copy number variation medicine.disease Mental illness Evolvability schizophrenia Psychiatry and Mental health Evolutionary biology missing heritability Epistasis Autism 030217 neurology & neurosurgery |
| Zdroj: | Frontiers in Psychiatry Frontiers in Psychiatry, Vol 11 (2021) |
| ISSN: | 1664-0640 |
| DOI: | 10.3389/fpsyt.2020.593233 |
| Popis: | Twentieth-century genetics was hard put to explain the irregular behavior of neuropsychiatric disorders. Autism and schizophrenia defy a principle of natural selection; they are highly heritable but associated with low reproductive success. Nevertheless, they persist. The genetic origins of such conditions are confounded by the problem of variable expression, that is, when a given genetic aberration can lead to any one of several distinct disorders. Also, autism and schizophrenia occur on a spectrum of severity, from mild and subclinical cases to the overt and disabling. Such irregularities reflect the problem of missing heritability; although hundreds of genes may be associated with autism or schizophrenia, together they account for only a small proportion of cases. Techniques for higher resolution, genomewide analysis have begun to illuminate the irregular and unpredictable behavior of the human genome. Thus, the origins of neuropsychiatric disorders in particular and complex disease in general have been illuminated. The human genome is characterized by a high degree of structural and behavioral variability: DNA content variation, epistasis, stochasticity in gene expression, and epigenetic changes. These elements have grown more complex as evolution scaled the phylogenetic tree. They are especially pertinent to brain development and function. Genomic variability is a window on the origins of complex disease, neuropsychiatric disorders, and neurodevelopmental disorders in particular. Genomic variability, as it happens, is also the fuel of evolvability. The genomic events that presided over the evolution of the primate and hominid lineages are over-represented in patients with autism and schizophrenia, as well as intellectual disability and epilepsy. That the special qualities of the human genome that drove evolution might, in some way, contribute to neuropsychiatric disorders is a matter of no little interest. |
| Databáze: | OpenAIRE |
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