4.7 Review

Genetic factors in intervertebral disc degeneration

Journal

GENES & DISEASES
Volume 3, Issue 3, Pages 178-185

Publisher

ELSEVIER
DOI: 10.1016/j.gendis.2016.04.005

Keywords

Genetic factor; Intervertebral disc; Intervertebral disc degeneration; Low back pain; Polymorphism

Funding

  1. National Institute of Arthritis and Musculoskeletal and Skin Diseases of the National Institutes of Health (NIH) [R01 AR059088]
  2. Mary A. & Paul R. Harrington Distinguished Professorship Endowment

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Low back pain (LBP) is a major cause of disability and imposes huge economic burdens on human society worldwide. Among many factors responsible for LBP, intervertebral disc degeneration (IDD) is the most common disorder and is a target for intervention. The etiology of IDD is complex and its mechanism is still not completely understood. Many factors such as aging, spine deformities and diseases, spine injuries, and genetic factors are involved in the pathogenesis of IDD. In this review, we will focus on the recent advances in studies on the most promising and extensively examined genetic factors associated with IDD in humans. A number of genetic defects have been correlated with structural and functional changes within the intervertebral disc (IVD), which may compromise the disc's mechanical properties and metabolic activities. These genetic and proteomic studies have begun to shed light on the molecular basis of IDD, suggesting that genetic factors are important contributors to the onset and progression of IDD. By continuing to improve our understanding of the molecular mechanisms of IDD, specific early diagnosis and more effective treatments for this disabling disease will be possible in the future. Copyright (C) 2016, Chongqing Medical University. Production and hosting by Elsevier B.V.

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