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骨科实践中的遗传学。

Genetics in orthopaedic practice.

机构信息

Department of Musculoskeletal Disorders, School of Medicine and Surgery, University of Salerno, Fisciano, Italy.

San Giovanni di Dio e Ruggi D'Aragona Hospital "Clinica Ortopedica" Department, Hospital of Salerno, Salerno, Italy.

出版信息

J Biol Regul Homeost Agents. 2019 Mar-Apr;33(2 Suppl. 1):103-117. XIX Congresso Nazionale S.I.C.O.O.P. Societa' Italiana Chirurghi Ortopedici Dell'ospedalita' Privata Accreditata.

PMID:31169010
Abstract

DNA holds genetic information in the nucleus of eukaryotic cells; and has three different functions: replication, storage of hereditary information, and regulation of cell division. Most studies described the association of single nucleotide polymorphism (SNP) to common orthopaedics diseases and the susceptibility to develop musculoskeletal injuries. Several mutations are associated with osteoporosis, musculoskeletal ailments and other musculoskeletal deformity and conditions. Several strategies, including gene therapy and tissue engineering with mesenchymal stem cells (MSC), have been proposed to enhance healing of musculoskeletal tissues. Furthermore, a recent technique has revolutionized gene editing: clustered regulatory interspaced short palindromic repeat (CRISPR) technology is characterized by simplicity in target design, affordability, versatility, and high efficiency, but needs more studies to become the preferred platform for genome editing. Predictive genomics DNA profiling allows to understand which genetic advantage, if any, may be exploited, and why a given rehabilitation protocol can be more effective in some individual than others. In conclusion, a better understanding of the genetic influence on the function of the musculoskeletal system and healing of its ailments is needed to plan and develop patient specific management strategies.

摘要

DNA 存在于真核细胞的细胞核中,具有三种不同的功能:复制、存储遗传信息和调节细胞分裂。大多数研究描述了单核苷酸多态性 (SNP) 与常见骨科疾病的关联,以及易患肌肉骨骼损伤的倾向。一些突变与骨质疏松症、肌肉骨骼疾病和其他肌肉骨骼畸形和疾病有关。已经提出了几种策略,包括基因治疗和间充质干细胞 (MSC) 的组织工程,以增强肌肉骨骼组织的愈合。此外,最近的一项技术彻底改变了基因编辑:成簇的规则间隔短回文重复序列 (CRISPR) 技术的特点是目标设计简单、经济实惠、多功能和高效率,但需要更多的研究才能成为基因组编辑的首选平台。预测基因组学 DNA 分析允许了解如果有任何遗传优势可以被利用,以及为什么给定的康复方案在某些个体中比在其他个体中更有效。总之,需要更好地了解遗传对肌肉骨骼系统功能和疾病愈合的影响,以便计划和制定针对患者的管理策略。

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