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Sorokina, O.

Publications and source records attributed to Sorokina, O..

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Protein trafficking and synaptic demand configure complex and dynamic synaptome architectures of individual neurons

Excitatory synapses are the most abundant synapse type in the brain. Being essential for behaviour and are implicated in hundreds of brain disorders, these synapses exhibit striking structural and functional diversity. Synaptome mapping at single-synapse resolution reveals that synaptic protein diversity is spatially organised along the dendritic tree of individual neurons and varies with age and cell-type. However, the cell biological mechanisms underlying the generation of these complex spatial synaptic patterns remain poorly understood. Potential mechanisms include somatic and dendritic protein synthesis, protein trafficking, and local regulatory mechanisms such as activity-dependent degradation. Here we developed computational models to test how combinations of these processes account for empirical synaptome data. We found that a combination of molecular transport mechanisms and local synaptic demand for proteins was sufficient to explain very complex profiles of synaptic protein distributions observed in young, mature and old mice and in different cell types. Our findings suggest the highly complex and dynamic synaptome architecture of the brain is an emergent property of a minimal set of cell biological processes. Our model sets the stage for simulations of brain tissue incorporating molecularly diverse neuronal and synaptic types in a synaptome and connectome architecture.

neuroscience↗

SynaptopathyDB: a resource for studying the genetic and synaptic basis of nervous system disorders

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. 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.

neuroscience↗

BioNAR: An Integrated Biological Network Analysis Package in Bioconductor

Biological function in protein complexes emerges from more than just the sum of their parts: Molecules interact in a range of different subcomplexes and transfer signals/information around internal pathways. Modern proteomic techniques are excellent at producing a parts-list for such complexes, but more detailed analysis demands a network approach linking the molecules together and analyzing the emergent architectural properties. Methods developed for the analysis of networks in social sciences have proven very useful for splitting biological networks into communities leading to the discovery of sub-complexes enriched with molecules associated with specific diseases or molecular functions that are not apparent from the constituent components alone. Here we present the Bioconductor package BioNAR which supports step-by-step analysis of biological/biomedical networks with the aim of quantifying and ranking each of the networks vertices based on network topology and clustering. Examples demonstrate that while BioNAR is not restricted to proteomic networks, it can predict a proteins impact within multiple complexes, and enables estimation of the co-occurrence of meta-data, i.e., diseases and functions across the network, identifying the clusters whose components are likely to share common function and mechanisms. The package is available from Bioconductor release 3.16: https://bioconductor.org/packages/release/bioc/html/BioNAR.html Author BiographiesColin McLean holds a PhD in Experimental Particle Physics from the University of Edinburgh. He is currently a Senior Research Fellow in Health Economics and Data Science at the Institute for Genetics and Cancer at the University of Edinburgh. His research interests include applied network and data science in the biomedical domain. Anatoly Sorokin holds PhD Degree in Biophysics and is a Senior computational biologist in the Biological Systems Unit, Okinawa Institute of Science and Technology. His research interests include graph-based analysis, constraint-base, dynamics and rule-based modelling and application areas include systems biology, bioinformatics and microbiomics. Ian Simpson has a DPhil in Genetics (Oxford 2000) and is currently Director of the UKRI Centre for Doctoral Training in Biomedical Artificial Intelligence and a Reader in Biomedical Informatics in the School of Informatics at The University of Edinburgh. His research interests lie at the boundary between Informatics and Biomedicine and focus on jointly modelling molecular and clinical data to improve our understanding of genetic disease. J Douglas Armstrong holds a PhD in Molecular Genetics (Glasgow 1995) and is currently Professor of Systems Neurobiology at the School of Informatics at Edinburgh University. His research interests focus on structure/function mapping in the brains of model organisms. Oksana Sorokina holds a PhD in Systems Biology (Edinburgh 2010) and is a Senior Researcher at the School of Informatics at Edinburgh University. Her expertise is in the computational analysis of complex datasets primarily proteomics and the integration of genetic and other omic data types to understand molecular complexes at the systems biology level.

bioinformatics↗

Modelling eNvironment for Isoforms (MoNvIso): A general platform to predict structural determinants of protein isoforms in genetic diseases

The seamless integration of human disease-related mutation data into protein structures is an essential component of any attempt to correctly assess the impact of the mutation. The key step preliminary to any structural modelling is the identification of the correct isoform onto which mutations should be mapped because there are several functionally different protein isoforms from the same gene. To handle large sets of data coming from omics techniques, this challenging task should be automatized. Here we present our code MoNvIso (Modelling eNvironment for Isoforms), which pinpoints the correct isoform associated with the mutation of interest and builds a structural model of both the wild type isoform and the related variants starting from the name of the gene and the list of mutations of interest.

bioinformatics↗

A configurable model of the synaptic proteome reveals the molecular mechanisms of disease co-morbidity.

Synapses contain highly complex proteomes which control synaptic transmission, cognition and behaviour. Genes encoding synaptic proteins are associated with neuronal disorders many of which show clinical co-morbidity. Our hypothesis is that there is mechanistic overlap that is emergent from the network properties of the molecular complex. To test this requires a detailed and comprehensive molecular network model. We integrated 57 published synaptic proteomic datasets obtained between 2000 and 2019 that describe over 7000 proteins. The complexity of the postsynaptic proteome is reaching an asymptote with a core set of ~3000 proteins, with less data on the presynaptic terminal, where each new study reveals new components in its landscape. To complete the network, we added direct protein-protein interaction data and functional metadata including disease association. The resulting amalgamated molecular interaction network model is embedded into a SQLite database. The database is highly flexible allowing the widest range of queries to derive custom network models based on meta-data including species, disease association, synaptic compartment, brain region, and method of extraction. This network model enables us to perform in-depth analyses that dissect molecular pathways of multiple diseases revealing shared and unique protein components. We can clearly identify common and unique molecular profiles for co-morbid neurological disorders such as Schizophrenia and Bipolar Disorder and even disease comorbidities which span biological systems such as the intersection of Alzheimers Disease with Hypertension.

systems biology↗

Regional diversity in the postsynaptic proteome of the mouse brain

The proteome of the postsynaptic terminal of excitatory synapses comprises over one thousand proteins in vertebrate species and plays a central role in behavior and brain disease. The brain is organized into anatomically distinct regions and whether the synapse proteome differs across these regions is poorly understood. Postsynaptic proteomes were isolated from seven forebrain and hindbrain regions in mice and their composition determined using proteomic mass spectrometry. Seventy-four percent of proteins showed differential expression and each region displayed a unique compositional signature. These signatures correlated with the anatomical divisions of the brain and their embryological origins. Biochemical pathways controlling plasticity and disease, protein interaction networks and individual proteins involved with cognition all showed differential regional expression. Combining proteomic and connectomic data shows that interconnected regions have specific proteome signatures. Diversity in synapse proteome composition is key feature of mouse and human brain structure.

neuroscience↗

Analysis of proteins in computational models of synaptic plasticity

The desire to explain how synaptic plasticity arises from interactions between ions, proteins and other signalling molecules has propelled the development of biophysical models of molecular pathways in hippocampal, striatal and cerebellar synapses. The experimental data underpinning such models is typically obtained from low-throughput, hypothesis-driven experiments. We used high-throughput proteomic data and bioinformatics datasets to assess the coverage of biophysical models.\n\nTo determine which molecules have been modelled, we surveyed biophysical models of synaptic plasticity, identifying which proteins are involved in each model. We were able to map 4.2% of previously reported synaptic proteins to entities in biophysical models. Linking the modelled protein list to Gene Ontology terms shows that modelled proteins are focused on functions such as calmodulin binding, cellular responses to glucagon stimulus, G-alpha signalling and DARPP-32 events.\n\nWe cross-linked the set of modelled proteins with sets of genes associated with common neurological diseases. We find some examples of disease-associated molecules that are well represented in models, such as voltage-dependent calcium channel family (CACNA1C), dopamine D1 receptor, and glutamate ionotropic NMDA type 2A and 2B receptors. Many other disease-associated genes have not been included in models of synaptic plasticity, for example catechol-O-methyltransferase (COMT) and MAO A. By incorporating pathway enrichment results, we identify LAMTOR, a gene uniquely associated with Schizophrenia, which is closely linked to the MAPK pathway found in some models.\n\nOur analysis provides a map of how molecular pathways underpinning neurological diseases relate to synaptic biophysical models that can in turn be used to explore how these molecular events might bridge scales into cellular processes and beyond. The map illustrates disease areas where biophysical models have good coverage as well as domain gaps that require significant further research.\n\nAuthor summaryThe 100 billion neurons in the human brain are connected by a billion trillion structures called synapses. Each synapse contains hundreds of different proteins. Some proteins sense the activity of the neurons connecting the synapse. Depending on what they sense, the proteins in the synapse are rearranged and new proteins are synthesised. This changes how strongly the synapse influences its target neuron, and underlies learning and memory. Scientists build computational models to reason about the complex interactions between proteins. Here we list the proteins that have been included in computational models to date. For good reasons, models do not always specify proteins precisely, so to make the list we had to translate the names used for proteins in models to gene names, which are used to identify proteins. Our translation could be used to label computational models in the future. We found that the list of modelled proteins contains only 4.2% of proteins associated with synapses, suggesting more proteins should be added to models. We used lists of genes associated with neurological diseases to suggest proteins to include in future models.

neuroscience↗