The omics focus on the study of pools of biological molecules (e.g., ions, nucleic acids, proteins, enzymes) in biological samples (e.g., serum, urines, cerebrospinal fluid, saliva, tissues). They analyse, as a whole: (a) DNA genes (genomics) and their functions (functional genomics); (b) DNA transcripts or RNA (transcriptomics); (c) proteins (proteomics); (d) metabolites (metabolomics). Omics also study reciprocal interactions occurring between such molecules (interactomics) and those between these molecules and the intestinal bacterial flora (microbiomics), the environmental bacterial flora (bacteriomics), food and nutrients (foodomics) and the environment (enviromics) or the environmental modifications affecting the structure of DNA (epigenomics). The aim of such holistic approach is to understand, operating via integrative approaches, higher and more complex hierarchical principles [e.g., (complex) systems biology] aimed in turn to reply to higher-level biological queries (e.g., pathogenesis, natural history or successful prognostic/therapeutic accomplishments). From a practical viewpoint omics use methodologies and techniques based on comparative array genome analysis (array-CGH), copy number variation (CNV), whole-genome sequencing or computed-based assays, which analyse dozens, hundreds or thousands of molecules/samples. These methodologies are currently available in a number of international and national laboratories. The present review article focuses on these general and laboratoy aspects and on the practical laboratory/bench-side applications in the field of paediatric neurology: e.g., biomarkers in muscular dystrophies, in immune-mediated diseases of central nervous system, in epileptic and hypoxic-ischaemic encephalopathies, in brain traumas and in neuroncology; new metabolites in neurodegenerative diseases; analysis of neuronal/neural networks and systems in developmental neurobiology.
Le scienze "omiche" si occupano dello studio di pools di molecole biologiche (es., ioni, acidi nucleici, proteine, enzimi) in determinati campioni biologici (es., siero, urine, liquor, saliva, tessuti). Esse analizzano, nel loro insieme: (a) i geni del DNA (genomica) e le loro funzioni (genomica funzionale); (b) i trascritti del DNA, cioè l'RNA (trascrittomica); (c) le proteine (proteomica); (d) i metaboliti all'interno di un organismo (metabolomica). Studiano anche le interazioni tra queste molecole (interattomica) e tra queste molecole e i microrganismi della flora intestinale (microbiomica) o dell'ambiente (infettivoma/infettivomica), i cibi/nutrienti nutribioma/nutribiomica) e l'ambiente in generale (ambientoma/ambientomica) e le modificazioni prodotte da tali interazioni sul DNA (epigenomica). Lo scopo di tale approccio olistico è quello di poter comprendere operando con approcci integrativi, principi operativi di livello più elevato/complesso: biologia dei sistemi. Ciò al fine di potere rispondere a domande biologiche gerarchicamente più complicate (es., patogenesi, storia naturale o successo terapeutico e prognosi di una malattia). Si avvalgono dell'impiego di tecniche di analisi genetica comparativa (array-CGH) o di variazioni del numero di copie del DNA (CNV) o di sequenziamento del DNA o computazionali che analizzano dati di decine, centinaia o migliaia di molecole/campioni. Tali metodiche sono oggi disponibili in svariati laboratori internazionali e nazionali. L'articolo analizza tali aspetti generali e di laboratorio e le applicazioni di ricerca e pratiche in neurologia pediatrica: es., marcatori biologici nelle distrofie muscolari, nelle malattie immuno-mediate del sistema nervoso centrale, nelle encefalopatie epilettiche e ipossico-ischemiche, nei traumi cranici ed in neuroncologia; nuovi metaboliti nelle malattie neurodegenerative; analisi di sistemi e di reti neuronali/neurali in neurobiologia dello sviluppo.
Scienze "omiche" e biologia dei sistemi complessi: applicazioni in neurologia pediatrica
Valentina La Cognata;Giulia Gentile;Sebastiano Cavallaro
2014
Abstract
The omics focus on the study of pools of biological molecules (e.g., ions, nucleic acids, proteins, enzymes) in biological samples (e.g., serum, urines, cerebrospinal fluid, saliva, tissues). They analyse, as a whole: (a) DNA genes (genomics) and their functions (functional genomics); (b) DNA transcripts or RNA (transcriptomics); (c) proteins (proteomics); (d) metabolites (metabolomics). Omics also study reciprocal interactions occurring between such molecules (interactomics) and those between these molecules and the intestinal bacterial flora (microbiomics), the environmental bacterial flora (bacteriomics), food and nutrients (foodomics) and the environment (enviromics) or the environmental modifications affecting the structure of DNA (epigenomics). The aim of such holistic approach is to understand, operating via integrative approaches, higher and more complex hierarchical principles [e.g., (complex) systems biology] aimed in turn to reply to higher-level biological queries (e.g., pathogenesis, natural history or successful prognostic/therapeutic accomplishments). From a practical viewpoint omics use methodologies and techniques based on comparative array genome analysis (array-CGH), copy number variation (CNV), whole-genome sequencing or computed-based assays, which analyse dozens, hundreds or thousands of molecules/samples. These methodologies are currently available in a number of international and national laboratories. The present review article focuses on these general and laboratoy aspects and on the practical laboratory/bench-side applications in the field of paediatric neurology: e.g., biomarkers in muscular dystrophies, in immune-mediated diseases of central nervous system, in epileptic and hypoxic-ischaemic encephalopathies, in brain traumas and in neuroncology; new metabolites in neurodegenerative diseases; analysis of neuronal/neural networks and systems in developmental neurobiology.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
