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Related Concept Videos

Degenerative Disc Disease I: Introduction01:27

Degenerative Disc Disease I: Introduction

Degenerative disc disease is a chronic condition in which intervertebral discs gradually lose structure and function. It is not infectious or autoimmune; rather, it results from age-related biochemical and mechanical changes, influenced by genetic, metabolic, and environmental factors.Structure and Function of DiscsThe spine contains 23 intervertebral discs that absorb load, distribute forces, maintain spacing, and allow flexibility. Each disc consists of a nucleus pulposus, a gel-like core...
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The symptoms of degenerative disc disease arise from a combination of mechanical compression, vascular compromise, and biochemical inflammation, which together disrupt nerve function and produce pain.Mechanical CompressionDisc degeneration reduces height and elasticity, predisposing to herniation of the nucleus pulposus, a major cause of radicular pain. Herniations may be protrusion (bulging with intact annulus), extrusion (nucleus extends beyond disc but remains connected), or sequestration...
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Intervertebral disc herniation refers to the displacement of the nucleus pulposus (the gel-like inner core of the disc) through a tear or weakened area in the annulus fibrosus (the outer fibrous ring). The displaced disc material extends beyond the normal boundaries of the disc space and may compress or irritate nearby spinal nerve roots or, less commonly, the spinal cord.Etiology and Risk FactorsHerniation commonly results from degeneration, in which aging reduces disc hydration and...
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The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
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Related Experiment Video

Updated: May 12, 2026

Optical Sectioning and Visualization of the Intervertebral Disc from Embryonic Development to Degeneration
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Genetic polymorphisms associated with intervertebral disc degeneration.

Jillian E Mayer1, James C Iatridis, Danny Chan

  • 1Leni and Peter W. May Department of Orthopaedics, Mount Sinai Medical Center, 5 East 98th St, 9th Floor, New York, NY 10029, USA.

The Spine Journal : Official Journal of the North American Spine Society
|March 30, 2013
PubMed
Summary
This summary is machine-generated.

Genetic factors, including specific gene polymorphisms, are linked to disc degeneration (DD). Understanding these genetic associations may help predict and manage painful DD risk.

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Area of Science:

  • Genetics and Molecular Biology
  • Orthopedics and Musculoskeletal Diseases
  • Biochemistry

Background:

  • Disc degeneration (DD) is a complex condition affecting intervertebral disc structure and function, often leading to pain.
  • The exact causes of DD are not fully understood, but genetic factors are suspected contributors to disease risk.

Purpose of the Study:

  • To review genetic factors, specifically polymorphisms, associated with DD.
  • To explore the role of these genetic variations in the pathophysiology of disc degeneration.
  • To identify potential genetic markers for early intervention in high-risk individuals.

Main Methods:

  • Literature review of studies investigating genetic polymorphisms and their association with DD.
  • Analysis of genetic associations across 20 different genes.

Main Results:

  • Genetic polymorphisms in 20 genes were analyzed for their association with DD.
  • Key genes with promising associations include vitamin D receptor, aggrecan, Type IX collagen, asporin, MMP3, IL1, and IL6.
  • Each studied polymorphism involves proteins with a functional role in DD pathogenesis.

Conclusions:

  • Several genetic polymorphisms are associated with DD.
  • Specific polymorphisms in vitamin D receptor, aggrecan, Type IX collagen, asporin, MMP3, IL1, and IL6 show significant potential.
  • Genetic analysis can aid in understanding DD mechanisms and developing predictive models for symptomatic DD risk.