Mercuri Antonella, Turchi Stefano, Borghini Andrea, Chiesa Maria Rosa, Lazzerini Guido, Musacchio Laura, Zirilli Ottavio, Andreassi Maria Grazia
U.O. Biobank, CNR, Institute of Clinical Physiology, Pisa, Italy.
Curr Cardiol Rev. 2013 Aug;9(3):253-9. doi: 10.2174/1573403x113099990035.
Biobanks play a crucial role in "-Omics" research providing well-annotated samples to study major diseases, their pathways and mechanisms. Accordingly, there are major efforts worldwide to professionalize biobanks in order to provide high quality preservation and storage of biological samples with potentially greater scientific impact. Biobanks are an important resource to elucidate relevant disease mechanisms as well as to improve the diagnosis, prognosis, and treatment of both pediatric and adult cardiovascular disease. High-quality biological sample collections housed in specialized bio-repositories are needed to discover new genetic factors and molecular mechanisms of congenital heart disease and inherited cardiomyopathies in order to prevent the potential risk of having a fatal cardiac condition as well as to facilitate rational drug design around molecular diseases (personalized medicine). Biological samples are also required to improve the understanding the environmental mechanisms of heart disease (environmental cardiology). The goal of this paper is to focus on preanalytical issues (informed consent, sample type, time of collection, temperature and processing procedure) related to collection of biological samples for research purposes. In addition, the paper provides an overview of the efforts made recently by our Institute in designing and implementing a high-security liquid nitrogen storage system (-196°C). We described the implementations of reliable preservation technologies and appropriate quality control (the right temperature, the right environment, fully traceable with all possible back-up systems) in order to ensure maximum security for personnel as well as the quality and suitability of the stored samples.
生物样本库在“组学”研究中发挥着关键作用，为研究重大疾病、其发病途径和机制提供注释完善的样本。因此，全球都在做出重大努力以使生物样本库专业化，以便高质量地保存和存储生物样本，从而可能产生更大的科学影响。生物样本库是阐明相关疾病机制以及改善儿科和成人心血管疾病诊断、预后和治疗的重要资源。为了发现先天性心脏病和遗传性心肌病的新遗传因素和分子机制，以预防致命心脏疾病的潜在风险，并促进围绕分子疾病的合理药物设计（个性化医疗），需要在专门的生物储存库中保存高质量的生物样本集。还需要生物样本以增进对心脏病环境机制的理解（环境心脏病学）。本文的目标是关注与用于研究目的的生物样本采集相关的分析前问题（知情同意、样本类型、采集时间、温度和处理程序）。此外，本文概述了我们研究所最近在设计和实施高安全性液氮储存系统（-196°C）方面所做的努力。我们描述了可靠保存技术和适当质量控制（合适的温度、合适的环境、通过所有可能的备用系统实现完全可追溯）的实施情况，以确保人员的最大安全以及所存储样本的质量和适用性。
