Lysosomal Diseases and Neuropsychiatry: Opportunities to Rebalance the Mind.
Authors
Publication Date
2020Journal Title
Front Mol Biosci
ISSN
2296-889X
Publisher
Frontiers Media SA
Volume
7
Language
en
Type
Article
This Version
VoR
Metadata
Show full item recordCitation
Cox, T. (2020). Lysosomal Diseases and Neuropsychiatry: Opportunities to Rebalance the Mind.. Front Mol Biosci, 7 https://doi.org/10.3389/fmolb.2020.00177
Abstract
The brain is the physical organ of the mind but efforts to understand mental illness within a neurobiological context have hitherto been unavailing. Mental disorders (anxiety, depression, bipolar disorder, and schizophrenia) affect about one fifth of the population and present an almost endless societal challenge at the frontier of human sciences. Prodigious technological advances in functional neuroimaging and large-scale genetics have not yet delivered the prospect of refined molecular understanding of mental illness beyond early anatomical descriptions of brain metabolism. However, intensive clinical phenotyping and quantitative metabolic studies using sophisticated radio-ligands in positron-emission tomography, persistently favor the neurobiological approach. This Perspective pursues a familiar maxim in Medicine, aptly summarized in the words of Arthur Koestler: "Nature is generous in her senseless experiments on mankind." Hitherto, studies in neuropsychiatry have largely ignored rare genetic disorders but derangements of specific components within the cerebral laboratory offer rich opportunities for mechanistic exploration. Aberrant psychic behavior is characteristic of many inborn errors of metabolism and although each disorder represents a universe of its own, we are at a threshold for understanding, since contemporary genetics and cell biology furnish abundant materials to take on the perturbing enigma of mental derangement. A further development relates to orphan drugs with actions on defined molecular targets: these represent new ways to study the pathogenesis of psychiatric phenomena associated with rare diseases and in a manner not formerly possible. Here we introduce the frontier of schizophrenia and its strong association with late-onset Tay-Sachs disease as a paradigm to explore.
Keywords
Molecular Biosciences, psychiatric manifestations, schizophrenia, lysosomal diseases, sphingolipids, late-onset Tay-Sachs disease, GM2 gangliosidoses, Thudichum, substrate-reduction therapy
Sponsorship
Medical Research Council (MR/K015338/1)
Medical Research Council (MR/K025570/1)
Identifiers
External DOI: https://doi.org/10.3389/fmolb.2020.00177
This record's URL: https://www.repository.cam.ac.uk/handle/1810/310049
Rights
Attribution 4.0 International (CC BY 4.0)
Licence URL: https://creativecommons.org/licenses/by/4.0/
Statistics
Total file downloads (since January 2020). For more information on metrics see the
IRUS guide.