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Genetic animal modeling for idiopathic scoliosis research: history and considerations

  • Genetics
  • Published:
Spine Deformity Aims and scope Submit manuscript

Abstract

Purpose

Idiopathic scoliosis (IS) is defined as a structural lateral spinal curvature ≥ 10° in otherwise healthy children and is the most common pediatric spinal deformity. IS is known to have a strong genetic component; however, the underlying etiology is still largely unknown. Animal models have been used historically to both understand and develop treatments for human disease, including within the context of IS. This intended audience for this review is clinicians in the fields of musculoskeletal surgery and research.

Methods

In this review article, we synthesize current literature of genetic animal models of IS and introduce considerations for researchers.

Results

Due to complex genetic and unique biomechanical factors (i.e., bipedalism) hypothesized to contribute to IS in humans, scoliosis is a difficult condition to replicate in model organisms.

Conclusion

We advocate careful selection of animal models based on the scientific question and introduce gaps and limitations in the current literature. We advocate future research efforts to include animal models with multiple characterized genetic or environmental perturbations to reflect current understanding of the human condition.

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Data and/or code availability

This is a narrative review; no data and or/code was generated.

Abbreviations

IS:

Idiopathic scoliosis

GWAS:

Genome-wide association study

QTL:

Quantitative trait locus

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The authors did not receive support from any organization for the submitted work. No funding was received to assist with the preparation of this manuscript. No funding was received for conducting this study. No funds, grants, or other support was received.

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  1. Department of Orthopedics, University of Colorado Anschutz Medical Campus, 12800 E 19th Ave., P18-3105, MS 8343, Aurora, CO, 80045, USA

    Elizabeth A. Terhune, Anna M. Monley, Melissa T. Cuevas, Cambria I. Wethey & Nancy Hadley-Miller

  2. Musculoskeletal Research Center, Children’s Hospital Colorado, Aurora, CO, 80045, USA

    Anna M. Monley & Nancy Hadley-Miller

  3. Department of Nutritional Sciences, The University of Texas at Austin, Austin, TX, 78712, USA

    Ryan S. Gray

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ET: data collection, writing—original draft preparation, writing—review and editing, approval of final version of manuscript, agree to be accountable for the work. AM: data collection, writing—original draft preparation, writing—review and editing, approval of final version of manuscript, agree to be accountable for the work. MC: data collection, writing—original draft preparation, writing—review and editing, approval of final version of manuscript, agree to be accountable for the work content. CW: data collection, writing—original draft preparation, writing—review and editing, approval of final version of manuscript, agree to be accountable for the work content. RG: data collection, writing—review and editing, approval of final version of manuscript, agree to be accountable for the work. NH-M: writing—review and editing, supervision, approval of final version of manuscript, agree to be accountable for the work.

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Correspondence to Nancy Hadley-Miller.

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Terhune, E.A., Monley, A.M., Cuevas, M.T. et al. Genetic animal modeling for idiopathic scoliosis research: history and considerations. Spine Deform 10, 1003–1016 (2022). https://doi.org/10.1007/s43390-022-00488-7

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