title: Diseases of the Synaptic Vesicle: A Potential New Group of Neurometabolic Disorders Affecting Neurotransmission.
abstract: The general concept of inborn error of metabolism is currently evolving into the interface between classical biochemistry and cellular biology. Basic neuroscience is providing increasing knowledge about the mechanisms of neurotransmission and novel related disorders are being described. There is a necessity of updating the classic concept of "inborn error of neurotransmitters (NT)" that considers mainly defects of synthesis and catabolism and transport of low weight NT molecules. Monogenic defects of the synaptic vesicle (SV), and especially those affecting the SV cycle are a potential new group of NT disorders since they end up in abnormal NT turnover and release. The most common clinical manifestations include epilepsy, intellectual disability, autism and movement disorders, and are in the continuum symptoms of synaptopathies. Interestingly, brain malformations and neurodegenerative conditions are also present within SV diseases. Metabolomics, proteomics, and other -omic techniques probably will provide biomarkers and contribute to therapeutic targets in the future.
authors.affiliation: From the Laboratory of Synaptic Metabolism, ISCIII, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Neurology, ISCIII, Hospital Sant Joan de Déu, Barcelona, Spain.
authors.forename: E
authors.initials: E
authors.lastname: Cortès-Saladelafont
authors.affiliation: From the Laboratory of Synaptic Metabolism, ISCIII, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Neurology, ISCIII, Hospital Sant Joan de Déu, Barcelona, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Tristán-Noguero
authors.affiliation: CIBERER, ISCIII, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Molecular Biochemistry, Laboratory of Inborn Errors of Metabolism, Hospital Sant Joan de Déu, Barcelona, Spain.
authors.forename: R
authors.initials: R
authors.lastname: Artuch
authors.affiliation: Institute of Neuropathology, Bellvitge Biomedical Research Institute (IDIBELL), L׳Hospitalet de Llobregat, Barcelona, Spain.
authors.forename: X
authors.initials: X
authors.lastname: Altafaj
authors.affiliation: Molecular Physiology of the Synapse Laboratory, Institut d׳Investigació Biomèdica Sant Pau, Barcelona, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Bayès
authors.affiliation: From the Laboratory of Synaptic Metabolism, ISCIII, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Neurology, ISCIII, Hospital Sant Joan de Déu, Barcelona, Spain; CIBERER, ISCIII, Hospital Sant Joan de Déu, Barcelona, Spain. Electronic address: agarcia@hsjdbcn.org.
authors.forename: A
authors.initials: A
authors.lastname: García-Cazorla
mesh_terms: D020739:Brain Diseases, Metabolic, Inborn / Q000150:complications*; D000013:Congenital Abnormalities / Q000209:etiology*; D004827:Epilepsy / Q000209:etiology*; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology*; D009069:Movement Disorders / Q000209:etiology*; D019636:Neurodegenerative Diseases / Q000209:etiology*; D009468:Neuromuscular Diseases / Q000209:etiology*; D009435:Synaptic Transmission / Q000502:physiology*; D013572:Synaptic Vesicles / Q000473:pathology*