SynaptopathyDB integrates synaptic proteomes, genetic and phenotypic data to advance research on nervous system disorders
Por:
Sorokina, O, Dominic, D, Bayés, A, Armstrong, JD, Grant, SGN
Publicada:
2 dic 2025
Resumen:
Synaptic dysfunction resulting from pathogenic variants in genes encoding synaptic proteins is a major contributor to brain and behavioural disorders, collectively termed synaptopathies. To facilitate research into the genetic basis and clinical manifestations of synaptopathy we have created SynaptopathyDB, an online resource that integrates data from 64 mammalian synapse proteomic studies and multiple genetic and phenotypic resources (www.synaptopathyDB.org). We identified a consensus set of 3,437 mammalian synapse proteins from presynaptic and postsynaptic compartments, which have wide application in genetic and omic studies. Mutations in 954 genes encoding 28% of the consensus synapse proteome were associated with 1,266 OMIM diseases of the central and peripheral nervous system. We present findings that underscore the pervasive role of synaptic gene variants in the phenotypes of neurological, psychiatric, developmental, and systemic disorders highlighting the significant burden they impose on individuals and healthcare systems. SynaptopathyDB is a versatile platform and discovery tool for understanding the role of synapse proteins and genetic variants in human disease phenotypes.
Filiaciones:
Sorokina, O:
Univ Edinburgh, Inst Adapt & Neural Computat, Sch Informat, Edinburgh EH8 9AB, Scotland
Dominic, D:
Univ Edinburgh, Inst Neurosci & Cardiovasc Res, Genes Cognit Programme, Edinburgh EH16 4SB, Scotland
Bayés, A:
Inst Recerca St Pau IR ST PAU, Mol Physiol, Synapse Lab, Barcelona, Spain
Univ Autonoma Barcelona, Bellaterra, Cerdanyola Del, Spain
Armstrong, JD:
Univ Edinburgh, Inst Adapt & Neural Computat, Sch Informat, Edinburgh EH8 9AB, Scotland
Forschungszentrum Julich, Computat Biomed IAS 5 INM 9, Julich, Germany
Grant, SGN:
Univ Edinburgh, Inst Neurosci & Cardiovasc Res, Genes Cognit Programme, Edinburgh EH16 4SB, Scotland
Univ Edinburgh, Euan MacDonald Ctr, Edinburgh EH16 4SB, Scotland
Univ Edinburgh, Ctr Discovery Brain Sci, Simons Initiat Developing Brain, Edinburgh EH8 9XD, Scotland
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