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Gene Review

IS1  -  Adolescent idiopathic scoliosis

Homo sapiens

Synonyms: AIS, AIS1
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Disease relevance of AIS

  • Converse degrees of spinal stability may predispose to the respective curvature deformities of AIS and the enthesopathy lesions of AS [1].
  • We obtained from 32 experienced Fellows of the Scoliosis Research Society and members of the Spinal Deformities Study Group the detailed preoperative planning for three AIS patients with Lenke curve types 1A, 3A and 5C [2].
  • Early detection and treatment of AIS-related osteopenia might help in maximizing peak bone mass during peripubertal growth that thereby minimizing risks of developing osteoporotic fractures later in life [3].
  • In conclusion, AIS girls were found to have lower body weight and BMI, longer segmental lengths and generalized low bone mass [4].
  • Health professionals involved with the management of persons with AIS need to consider this important outcome and need to put in place procedures for the identification, investigation, prevention, and treatment of back pain [5].

Psychiatry related information on AIS

  • However, studies linking calcium-intake (CA), weight-bearing physical-activity (PA) and bone mass of AIS are lacking [4].
  • The CP range was larger and the root mean square (RMS) of the CP velocity was more variable for AIS than for control participants when ankle proprioception was perturbed [6].
  • The relationship between a diagnosis of AIS and low body-weight may indicate disordered eating and is thus a cause for concern, particularly in the light of the well-established relationship between eating psychopathology and osteoporosis [7].
  • In particular, the development of an early AIS deformity at a time of rapid spinal growth the association of CNS maturational delay results in the CNS attempting to balance a lateral spinal deformity in a moving upright trunk that is larger than the information on personal space (self) already established in the brain by that time of development [8].
  • Multisurgeon assessment of surgical decision-making in adolescent idiopathic scoliosis: curve classification, operative approach, and fusion levels [9].

High impact information on AIS

  • The technique involves induction of an IS1 transposase gene carried by a plasmid which also includes an IS1-based transposable element [10].
  • Further high-density mapping and informative recombinations defined the AIS critical region in the vicinity of D19S216, flanked by D19S894 and D19S1034, spanning 5.2 cM on the sex-averaged genetic map on chromosome 19p13.3 [11].
  • A genetic locus for adolescent idiopathic scoliosis linked to chromosome 19p13.3 [11].
  • In vitro splicing experiments with one such mutant (insertion suppressor 1 [IS1]) revealed that exon 1 and lariat-exon 2 intermediates were produced (step 1) but the exons were not efficiently ligated (step 2) [12].
  • In vitro analysis of p94 autolysis showed that autolysis in IS1 proceeds without immediate disassembly into fragments and that the newly identified cryptic autolytic site in IS2 is critical for disassembling autolyzed fragments [13].

Chemical compound and disease context of AIS

  • To investigate the change of melatonin receptor mRNA expression in bilateral paravertebral muscles in AIS, congenital scoliosis (CS) and controls in order to analyze its relationship to the pathogenesis of AIS [14].

Biological context of AIS


Anatomical context of AIS

  • The cord appeared more roundish and was deviated to the concavity at apical vertebra in AIS [17].
  • The present study for the first time revealed that over 86% of osteopenic AIS patients had persistently low BMD, at both distal tibia and femoral neck regions, at the time of skeletal maturity [3].
  • Sagittal magnetic resonance imaging (MRI) of hindbrain was performed on both of 205 AIS patients with a Cobb angle greater than 40 degrees and 86 healthy controls [18].
  • This study is an investigation into the position of the cerebellar tonsils in AIS with severe curves and any relationship it has with age, sex, curve severity and curve pattern [18].
  • Extra-spinal skeletal length asymmetry have been reported for the upper limbs and periapical ribs of patients with thoracic adolescent idiopathic scoliosis [19].

Associations of AIS with chemical compounds

  • Many studies have demonstrated the role of melatonin in the etiology of AIS [15].
  • In AIS and controls, the mean position of the cerebellar tonsil was 0.9 and 2.9 mm above the BO line, respectively [18].
  • This is the first study that specifically evaluates the sagittal and coronal sacropelvic morphology in AIS [20].
  • CONCLUSION: Selective thoracic fusion of main thoracic-compensatory lumbar C modifier AIS curves with pedicle screws allowed for better thoracic correction and less postoperative coronal decompensation than seen with hooks [21].
  • Fifty patients with AIS were randomly divided into two groups: Group I (N = 25) treated with 40 mg/day with simvastatin within 24 hours after the onset of stroke and Group II (N = 25) non-treated with statin [22].

Regulatory relationships of AIS


Other interactions of AIS


Analytical, diagnostic and therapeutic context of AIS

  • Newly diagnosed AIS girls (n=596) aged 11-16 years with Cobb angle >/=10 degrees were recruited to compare with age-matched healthy girls (n=302) in a cross-sectional study [4].
  • The results showed that weight and body mass index (BMI) of AIS were lower than the controls (P<0.05) [4].
  • The objective of this study was to analyze the impact of a physical rehabilitation program on respiratory function in surgical patients with AIS [25].
  • OBJECTIVES: To prospectively evaluate sequential pulmonary function tests (PFTs) at a minimum 2-year follow-up after an open anterior spinal fusion (ASF) with instrumentation for thoracic AIS [26].
  • Health outcomes were assessed by a postal questionnaire administered to the AIS cohort and to the control group [27].


  1. Are adolescent idiopathic scoliosis and ankylosing spondylitis counter-opposing conditions? A hypothesis on biomechanical contributions predisposing to these spinal disorders. Masi, A.T., Dorsch, J.L., Cholewicki, J. Clinical and experimental rheumatology. (2003) [Pubmed]
  2. Biomechanical assessment of variable instrumentation strategies in adolescent idiopathic scoliosis: preliminary analysis of 3 patients and 6 scenarios. Robitaille, M., Aubin, C.E., Labelle, H. Studies in health technology and informatics (2006) [Pubmed]
  3. Persistent Osteopenia in Adolescent Idiopathic Scoliosis - Longitudinal Monitoring of Bone Mineral Density until Skeletal Maturity. Cheng, J.C., Hung, V.W., Lee, W.T., Yeung, H.Y., Lam, T.P., Ng, B.K., Guo, X., Qin, L. Studies in health technology and informatics (2006) [Pubmed]
  4. Generalized low bone mass of girls with adolescent idiopathic scoliosis is related to inadequate calcium intake and weight bearing physical activity in peripubertal period. Lee, W.T., Cheung, C.S., Tse, Y.K., Guo, X., Qin, L., Ho, S.C., Lau, J., Cheng, J.C. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA. (2005) [Pubmed]
  5. The Ste-Justine Adolescent Idiopathic Scoliosis Cohort Study. Part III: Back pain. Mayo, N.E., Goldberg, M.S., Poitras, B., Scott, S., Hanley, J. Spine. (1994) [Pubmed]
  6. Sensory deprivation and balance control in idiopathic scoliosis adolescent. Simoneau, M., Richer, N., Mercier, P., Allard, P., Teasdale, N. Experimental brain research. Experimentelle Hirnforschung. Expérimentation cérébrale. (2006) [Pubmed]
  7. Indications of disordered eating behaviour in adolescent patients with idiopathic scoliosis. Smith, F.M., Latchford, G., Hall, R.M., Millner, P.A., Dickson, R.A. The Journal of bone and joint surgery. British volume. (2002) [Pubmed]
  8. Etiologic Theories of Idiopathic Scoliosis: Neurodevelopmental Concept of Maturational Delay of the CNS Body Schema ("Body-in-the-Brain"). Burwell, R.G., Freeman, B.J., Dangerfield, P.H., Aujla, R.K., Cole, A.A., Kirby, A.S., Polak, F., Pratt, R.K., Webb, J.K., Moulton, A. Studies in health technology and informatics (2006) [Pubmed]
  9. Multisurgeon assessment of surgical decision-making in adolescent idiopathic scoliosis: curve classification, operative approach, and fusion levels. Lenke, L.G., Betz, R.R., Haher, T.R., Lapp, M.A., Merola, A.A., Harms, J., Shufflebarger, H.L. Spine. (2001) [Pubmed]
  10. IS1-mediated intramolecular rearrangements: formation of excised transposon circles and replicative deletions. Turlan, C., Chandler, M. EMBO J. (1995) [Pubmed]
  11. A genetic locus for adolescent idiopathic scoliosis linked to chromosome 19p13.3. Chan, V., Fong, G.C., Luk, K.D., Yip, B., Lee, M.K., Wong, M.S., Lu, D.D., Chan, T.K. Am. J. Hum. Genet. (2002) [Pubmed]
  12. Genetic selection for balanced retroviral splicing: novel regulation involving the second step can be mediated by transitions in the polypyrimidine tract. Bouck, J., Fu, X.D., Skalka, A.M., Katz, R.A. Mol. Cell. Biol. (1995) [Pubmed]
  13. Suppressed disassembly of autolyzing p94/CAPN3 by N2A connectin/titin in a genetic reporter system. Ono, Y., Torii, F., Ojima, K., Doi, N., Yoshioka, K., Kawabata, Y., Labeit, D., Labeit, S., Suzuki, K., Abe, K., Maeda, T., Sorimachi, H. J. Biol. Chem. (2006) [Pubmed]
  14. Asymmetric expression of melatonin receptor mRNA in bilateral paravertebral muscles in adolescent idiopathic scoliosis. Wu, L., Qiu, Y., Wang, B., Yu, Y., Zhu, Z. Studies in health technology and informatics (2006) [Pubmed]
  15. The Role of Melatonin Receptor 1B Gene (MTNR1B) in Adolescent Idiopathic Scoliosis - A Genetic Association Study. Qiu, X.S., Tang, N.L., Yeung, H.Y., Qiu, Y., Qin, L., Lee, K.M., Cheng, J.C. Studies in health technology and informatics (2006) [Pubmed]
  16. Genetic Association Study of Insulin-like Growth Factor-I (IGF-I) Gene with Curve Severity and Osteopenia in Adolescent Idiopathic Scoliosis. Yeung, H.Y., Tang, N.L., Lee, K.M., Ng, B.K., Hung, V.W., Kwok, R., Guo, X., Qin, L., Cheng, J.C. Studies in health technology and informatics (2006) [Pubmed]
  17. Changes in Vertebral Neural Arch Morphometry and Functional Tethering of Spinal Cord in Adolescent Idiopathic Scoliosis - Study with Multi-planar Reformat Magnetic Resonance Imaging. Chu, W.C., Yeung, H.Y., Chau, W.W., Lam, W.W., Ng, B.K., Lam, T.P., Lee, K.M., Cheng, J.C. Studies in health technology and informatics (2006) [Pubmed]
  18. Variations of the position of the cerebellar tonsil in adolescent idiopathic scoliosis with severe curves: a MRI study. Sun, X., Qiu, Y., Zhu, Z. Studies in health technology and informatics (2006) [Pubmed]
  19. Patterns of extra-spinal left-right skeletal asymmetries in adolescent girls with lower spine scoliosis: relative lengthening of the ilium on the curve concavity & of right lower limb segments. Burwell, R.G., Aujla, R.K., Freeman, B.J., Dangerfield, P.H., Cole, A.A., Kirby, A.S., Pratt, R.K., Webb, J.K., Moulton, A. Studies in health technology and informatics (2006) [Pubmed]
  20. Comparison of Sacropelvic Morphology between Normal Adolescents and Subjects with Adolescent Idiopathic Scoliosis. Mac-Thiong, J.M., Labelle, H., de Guise, J.A. Studies in health technology and informatics (2006) [Pubmed]
  21. Selective posterior thoracic fusions for adolescent idiopathic scoliosis: comparison of hooks versus pedicle screws. Dobbs, M.B., Lenke, L.G., Kim, Y.J., Kamath, G., Peelle, M.W., Bridwell, K.H. Spine (2006) [Pubmed]
  22. Simvastatin Could Prevent Increase of the Serum MMP-9/TIMP-1 Ratio in Acute Ischaemic Stroke. Kurzepa, J., Szczepanska-Szerej, A., Stryjecka-Zimmer, M., Malecka-Massalska, T., Stelmasiak, Z. Folia Biol. (Praha) (2006) [Pubmed]
  23. Pineal gland metabolism in patients with adolescent idiopathic scoliosis. Suh, K.T., Lee, S.S., Kim, S.J., Kim, Y.K., Lee, J.S. The Journal of bone and joint surgery. British volume (2007) [Pubmed]
  24. A relook into the association of the estrogen receptor [alpha] gene (PvuII, XbaI) and adolescent idiopathic scoliosis: a study of 540 Chinese cases. Tang, N.L., Yeung, H.Y., Lee, K.M., Hung, V.W., Cheung, C.S., Ng, B.K., Kwok, R., Guo, X., Qin, L., Cheng, J.C. Spine (2006) [Pubmed]
  25. Impact of a physical rehabilitation program on the respiratory function of adolescents with idiopathic scoliosis. dos Santos Alves, V.L., Stirbulov, R., Avanzi, O. Chest (2006) [Pubmed]
  26. Prospective pulmonary function evaluation following open thoracotomy for anterior spinal fusion in adolescent idiopathic scoliosis. Graham, E.J., Lenke, L.G., Lowe, T.G., Betz, R.R., Bridwell, K.H., Kong, Y., Blanke, K. Spine. (2000) [Pubmed]
  27. The Ste-Justine Adolescent Idiopathic Scoliosis Cohort Study. Part II: Perception of health, self and body image, and participation in physical activities. Goldberg, M.S., Mayo, N.E., Poitras, B., Scott, S., Hanley, J. Spine. (1994) [Pubmed]
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