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Related Concept Videos

Mutations01:39

Mutations

Overview
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Herniated Intervertebral Disc l: Introduction01:29

Herniated Intervertebral Disc l: Introduction

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...
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...
Degenerative Disc Disease ll: Pathophysiology01:23

Degenerative Disc Disease ll: Pathophysiology

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...
Inflammatory Bowel Disease III: Crohn's Disease01:25

Inflammatory Bowel Disease III: Crohn's Disease

Crohn’s disease is a chronic, relapsing form of inflammatory bowel disease characterized by segmental, transmural inflammation that can affect any part of the gastrointestinal tract. Its pathogenesis arises from a combination of genetic susceptibility, environmental exposures, epithelial barrier dysfunction, and immune dysregulation. Together, these factors lead to an exaggerated immune response against components of the gut microbiome.Genetic and Environmental InfluencesMultiple genetic...

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Related Experiment Video

Updated: Jul 20, 2026

A Proinflammatory, Degenerative Organ Culture Model to Simulate Early-Stage Intervertebral Disc Disease.
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Genetic Alterations in Intervertebral Disc Disease.

Nikolay L Martirosyan1, Arpan A Patel2, Alessandro Carotenuto2

  • 1Department of Neurosurgery, St. Joseph's Hospital and Medical Center, Barrow Neurological Institute, Phoenix, AZ, USA; Division of Neurosurgery, College of Medicine, University of Arizona, Tucson, AZ, USA.

Frontiers in Surgery
|December 6, 2016
PubMed
Summary

Genetic factors significantly contribute to intervertebral disc degeneration (IVDD). This review details single-nucleotide polymorphisms (SNPs) in genes affecting structural proteins, inflammation, and matrix degradation, offering insights into IVDD development.

Keywords:
back painbiomarkerdegenerationdiscgene expressionherniationpersonalized caresingle-nucleotide polymorphism

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Area of Science:

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

Background:

  • Intervertebral disc degeneration (IVDD) is a multifactorial condition with approximately 75% of its etiology attributed to genetic factors.
  • Recent advancements in genome sequencing have identified numerous single-nucleotide polymorphisms (SNPs) linked to IVDD.
  • Understanding these genetic underpinnings is crucial for developing targeted therapies.

Conclusions:

  • Numerous novel SNPs in both known and previously unrecognized genes associated with IVDD have been discovered in the past decade.
  • A deeper understanding of genetic variants in IVDD pathophysiology can facilitate personalized medicine approaches.
  • This knowledge is key to advancing pharmacotherapeutic strategies for IVDD patients.