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Original Research

Identification of genetic variants associated with skeletal muscle function deficit in childhood acute lymphoblastic leukemia survivors

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Pages 33-45 | Published online: 11 Apr 2019

References

  • Canadian Cancer Society’s Advisory Committee on Cancer Statistics. Canadian Cancer Statistics 2016 . Toronto (ON): Canadian Cancer Society; 2017.
  • American Cancer Society. Cancer facts and figures 2014. Available from: http://www.cancer.gov/types/leukemia/hp/child-all-treatment-pdq#cit/section_1.5. Accessed 1117, 2017.
  • Siegel RL, Miller KD, Jemal A. Cancer statistics. CA Cancer J Clin. 2016;66:7–30. doi:10.3322/caac.2133226742998
  • Ness KK, Baker KS, Dengel DR, et al. Body composition, muscle strength deficit and mobility limitations in adult survivors of childhood acute lymphoblastic leukemia. Pediatr Blood Cancer. 2007;49:975–981. doi:10.1002/pbc.2109117091482
  • Casillas J, Sakamoto KM. Topics in paediatric leukemia–acute lymphoblastic leukemia and late effects in long-term survivors. MedGenMed. 2005;7:22–37.
  • Karakurt H, Sarper N, Kilic SC, Gelen SA, Zengin E. Screening survivors of childhood acute lymphoblastic leukemia for obesity, metabolic syndrome, and insulin resistance. Pediatr Hematol Oncol. 2012;29:551–561. doi:10.3109/08880018.2012.70889222897748
  • Krajinovic M, Elbared J, Drouin S, et al. Polymorphisms of ABCC5 and NOS3 genes influence doxorubicin cardiotoxicity in survivors of childhood acute lymphoblastic leukemia. Pharmacogenomics J. 2016;16:530–535. doi:10.1038/tpj.2015.6326345518
  • Jacola LM, Krull KR, Pui CH, et al. Longitudinal assessment of neurocognitive outcomes in survivors of childhood acute lymphoblastic leukemia treated on a contemporary chemotherapy protocol. J Clin Oncol. 2016;34:1239–1247. doi:10.1200/JCO.2015.64.320526858334
  • Akyay A, Olcay L, Sezer N, Atay Sonmez C. Muscle strength, motor performance, cardiac and muscle biomarkers in detection of muscle side effects during and after acute lymphoblastic leukemia treatment in children. J Pediatr Hematol Oncol. 2014;36:594–598. doi:10.1097/MPH.000000000000006725330012
  • Marcoux S, Drouin S, Laverdiere C, et al. The PETALE study: late adverse effects and biomarkers in childhood acute lymphoblastic leukemia survivors. Pediatr Blood Cancer. 2016;64:1–8.
  • Vuotto SC, Krull KR, Li C, et al. Impact of chronic disease on emotional distress in adult survivors of childhood cancer: a report from the Childhood Cancer Survivor Study. Cancer. 2017;123:521–528. doi:10.1002/cncr.3034827764524
  • Scheede-Bergdahl C, Jagoe RT. After the chemotherapy: potential mechanisms for chemotherapy-induced delayed skeletal muscle dysfunction in survivors of acute lymphoblastic leukaemia in childhood. Front Pharmacol. 2013;4:49–71. doi:10.3389/fphar.2013.0004923626576
  • Gouspillou G, Scheede-Bergdahl C, Spendiff S, et al. Anthracycline-containing chemotherapy causes long-term impairment of mitochondrial respiration and increased reactive oxygen species release in skeletal muscle. Sci Rep. 2015;5:8717–8740. doi:10.1038/srep0871725732599
  • Jn R, Dl W, Ta G. Skeletal muscle Ca(2+) mishandling: another effect of bone-to-muscle signaling. Semin Cell Dev Biol. 2016;49:24–29. doi:10.1016/j.semcdb.2015.11.00726593325
  • Bianchi L, Volpato S. Muscle dysfunction in type 2 diabetes: a major threat to patient’s mobility and independence. Acta Diabetol. 2016;53:879–889. doi:10.1007/s00592-016-0880-y27393005
  • Hirsch JA, Winters M, Sims-Gould J, et al. Developing a comprehensive measure of mobility: mobility over varied environments scale (MOVES). BMC Public Health. 2017;17:513–537. doi:10.1186/s12889-017-4450-128545433
  • Janiszewski PM, Oeffinger KC, Church TS, et al. Abdominal obesity, liver fat, and muscle composition in survivors of childhood acute lymphoblastic leukemia. J Clin Endocrinol Metab. 2007;92:3816–3821. doi:10.1210/jc.2006-217817652222
  • Sato AY, Richardson D, Cregor M, et al. Glucocorticoids induce bone and muscle atrophy by tissue-specific mechanisms upstream of E3 ubiquitin ligases. Endocrinology. 2017;158:664–677. doi:10.1210/en.2016-177928359087
  • Wang X, Jia Q, Xiao J, Jiao H, Lin H. Glucocorticoids retard skeletal muscle development and myoblast protein synthesis through a mechanistic target of rapamycin (mTOR)-signaling pathway in broilers (Gallus gallus domesticus). Stress. 2015;18:686–698. doi:10.3109/10253890.2015.108355126371871
  • Dong Y, Silva KA, Dong Y, Zhang L. Glucocorticoids increase adipocytes in muscle by affecting IL-4 regulated FAP activity. FASEB J. 2014;28:4123–4132. doi:10.1096/fj.14-25401124948596
  • Veilleux LN, Rauch F. Reproducibility of jumping mechanography in healthy children and adults. J Musculoskelet Neuronal Interact. 2010;10:256–266.21116062
  • Sumnik Z, Matyskova J, Hlavka Z, Durdilova L, Soucek O, Zemkova D. Reference data for jumping mechanography in healthy children and adolescents aged 6–18 years. J Musculoskelet Neuronal Interact. 2013;13:297–311.23989251
  • Kaji H. Interaction between muscle and bone. J Bone Metab. 2014;21:29–40. doi:10.11005/jbm.2014.21.1.2924707465
  • Guerrero F, Herencia C, Almaden Y, et al. TGF-beta prevents phosphate-induced osteogenesis through inhibition of BMP and Wnt/beta-catenin pathways. PLoS One. 2014;9:e89179–98. doi:10.1371/journal.pone.008917924586576
  • Sims NA, Vrahnas C. Regulation of cortical and trabecular bone mass by communication between osteoblasts, osteocytes and osteoclasts. Arch Biochem Biophys. 2014;561:22–28. doi:10.1016/j.abb.2014.05.01524875146
  • Estrada K, Styrkarsdottir U, Evangelou E, et al. Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nat Genet. 2012;44:491–501. doi:10.1038/ng.224922504420
  • Gunton JE, Girgis CM, Baldock PA, Lips P. Bone muscle interactions and vitamin D. Bone. 2015;80:89–94. doi:10.1016/j.bone.2015.02.02925745883
  • Karol SE, Yang W, Van Driest SL, et al. Genetics of glucocorticoid-associated osteonecrosis in children with acute lymphoblastic leukemia. Blood. 2015;126:1770–1776. doi:10.1182/blood-2015-05-64360126265699
  • Yao W, Cheng Z, Busse C, Pham A, Nakamura MC, Lane NE. Glucocorticoid excess in mice results in early activation of osteoclastogenesis and adipogenesis and prolonged suppression of osteogenesis: a longitudinal study of gene expression in bone tissue from glucocorticoid-treated mice. Arthritis Rheum. 2008;58:1674–1686. doi:10.1002/art.2345418512788
  • Riksen NP, Rongen GA, Smits P, van Riel P, Barrera P. Effect of the 34C>T variant in the AMPD1 gene on the clinical response to methotrexate in patients with rheumatoid arthritis: comment on the article by Wessels et al. Arthritis Rheum. 2007;56:694 author reply 694–5. doi:10.1002/art.22862.17265507
  • Eden E, Navon R, Steinfeld I, Lipson D, Yakhini Z. GOrilla: a tool for discovery and visualization of enriched GO terms in ranked gene lists. BMC Bioinformatics. 2009;10:48–61. doi:10.1186/1471-2105-10-4819192299
  • Spinella JF, Healy J, Saillour V, et al. Whole-exome sequencing of a rare case of familial childhood acute lymphoblastic leukemia reveals putative predisposing mutations in Fanconi anemia genes. BMC Cancer. 2015;15:539–552. doi:10.1186/s12885-015-1549-626201965
  • Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25:1754–1760. doi:10.1093/bioinformatics/btp32419451168
  • Picard: set of command line tools for manipulating high-throughput sequencing (HTS) data. Available from: https://broadinstitute.github.io/picard/. Accessed 1120, 2017.
  • McKenna A, Hanna M, Banks E, et al. the genome analysis toolkit: a mapreduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20:1297–1303. doi:10.1101/gr.107524.11020644199
  • Genomes PC, Gr A, Altshuler D, et al. A map of human genome variation from population-scale sequencing. Nature. 2010;467:1061–1073. doi:10.1038/nature0953420981092
  • Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;38:e164–81. doi:10.1093/nar/gkq60320601685
  • Wu MC, Lee S, Cai T, Li Y, Boehnke M, Lin X. Rare-variant association testing for sequencing data with the sequence kernel association test. Am J Hum Genet. 2011;89:82–93. doi:10.1016/j.ajhg.2011.05.02921737059
  • Pellegrinelli V, Rouault C, Rodriguez-Cuenca S, et al. Human adipocytes induce inflammation and atrophy in muscle cells during obesity. Diabetes. 2015;64:3121–3134. doi:10.2337/db14-079625695947
  • Krull KR, Bhojwani D, Conklin HM, et al. Genetic mediators of neurocognitive outcomes in survivors of childhood acute lymphoblastic leukemia. J Clin Oncol. 2013;31:2182–2188. doi:10.1200/JCO.2012.46.794423650422
  • Ross JA, Oeffinger KC, Davies SM, et al. Genetic variation in the leptin receptor gene and obesity in survivors of childhood acute lymphoblastic leukemia: a report from the Childhood Cancer Survivor Study. J Clin Oncol. 2004;22:3558–3562. doi: 10.1200/JCO.2004.11.15215337805
  • Bethesda NCBI. U.S. National Library of Medicine. DUOX2. Available from:https://www.ncbi.nlm.nih.gov/gene/50506. Accessed 11 20, 2017.
  • Kizys MML, Louzada RA, Mitne-Neto M, et al. DUOX2 mutations are associated with congenital hypothyroidism with ectopic thyroid gland. J Clin Endocrinol Metab. 2017;102:4060–4071. doi:10.1210/jc.2017-0083228666341
  • Parlato M, Charbit-Henrion F, Hayes P, et al. First identification of biallelic inherited DUOX2 inactivating mutations as a cause of very early onset inflammatory bowel disease. Gastroenterology. 2017;153(609–11):e603. doi:10.1053/j.gastro.2016.12.053
  • Mosekilde L, Eriksen EF, Charles P. Effects of thyroid hormones on bone and mineral metabolism. Endocrinol Metab Clin North Am. 1990;19:35–63.2192868
  • Leal AL, Albuquerque JP, Matos MS, et al. Thyroid hormones regulate skeletal muscle regeneration after acute injury. Endocrine. 2015;48:233–240. doi:10.1007/s12020-014-0271-524798447
  • Bethesda NCBI. U.S. National Library of Medicine. ADAMTS4. Available from: http://www.ncbi.nlm.nih.gov/gene/9507. Accessed 11 20, 2017.
  • Li W, Du C, Wang H, Zhang C. Increased serum ADAMTS-4 in knee osteoarthritis: a potential indicator for the diagnosis of osteoarthritis in early stages. Genet Mol Res. 2014;13:9642–9649. doi:10.4238/2014.November.14.925501175
  • El Khoury LY, Rickaby R, Samiric T, Raleigh SM. Promoter methylation status of the TIMP2 and ADAMTS4 genes and patellar tendinopathy. J Sci Med Sport. 2018;21:378–382. doi:10.1016/j.jsams.2017.08.01628888475
  • Dong H, Du T, Premaratne S, et al. Relationship between ADAMTS4 and carotid atherosclerotic plaque vulnerability in humans. J Vasc Surg. 2018;67(1120–6). doi:10.1016/j.jvs.2017.08.075.
  • Namgaladze D, Snodgrass RG, Angioni C, et al. AMP-activated protein kinase suppresses arachidonate 15-lipoxygenase expression in interleukin 4-polarized human macrophages. J Biol Chem. 2015;290:24484–24494. doi:10.1074/jbc.M115.67824326276392
  • Magnusson LU, Lundqvist A, Asp J, et al. High expression of arachidonate 15-lipoxygenase and proinflammatory markers in human ischemic heart tissue. Biochem Biophys Res Commun. 2012;424:327–330. doi:10.1016/j.bbrc.2012.06.11722750246
  • Klein RF, Allard J, Avnur Z, et al. Regulation of bone mass in mice by the lipoxygenase gene Alox15. Science. 2004;303:229–232. doi:10.1126/science.109098514716014
  • Herlin M, McGuigan FE, Luthman H, Åkesson K. Polymorphisms in inflammation associated genes ALOX15 and IL-6 are associated with bone properties in young women and fracture in elderly. Bone. 2015;79:105–109. doi:10.1016/j.bone.2015.05.03526036173
  • Fitts RH, McDonald KS, Schluter JM. The determinants of skeletal muscle force and power: their adaptability with changes in activity pattern. J Biomech. 1991;24(Suppl 1):111–122.1791172
  • Bamman MM, Newcomer BR, Larson-Meyer DE, Weinsier RL, Hunter GR. Evaluation of the strength-size relationship in vivo using various muscle size indices. Med Sci Sports Exerc. 2000;32:1307–1313.10912898
  • Tonson A, Ratel S, Le Fur Y, Cozzone P, Bendahan D. Effect of maturation on the relationship between muscle size and force production. Med Sci Sports Exerc. 2008;4:918–925. doi:10.1249/MSS.0b013e3181641bed
  • Hanada M, Sakamoto N, Ishimatsu Y, et al. Effect of long-term treatment with corticosteroids on skeletal muscle strength, functional exercise capacity and health status in patients with interstitial lung disease. Respirology. 2016;21:1088–1093. doi:10.1111/resp.1280727173103
  • Braun TP, Szumowski M, Levasseur PR, et al. Muscle atrophy in response to cytotoxic chemotherapy is dependent on intact glucocorticoid signaling in skeletal muscle. PLoS One. 2014;9(e106489):1–21. doi:10.1371/journal.pone.0106489
  • Chemaitilly W, Li Z, Huang S, et al. Anterior hypopituitarism in adult survivors of childhood cancers treated with cranial radiotherapy: a report from the St Jude Lifetime Cohort study. J Clin Oncol. 2015;33:492–500. doi:10.1200/JCO.2014.56.793325559807
  • Kempf SJ, Moertl S, Sepe S, et al. Low-dose ionizing radiation rapidly affects mitochondrial and synaptic signaling pathways in murine hippocampus and cortex. J Proteome Res. 2015;14:2055–2064. doi:10.1021/acs.jproteome.5b0011425807253
  • Correa-de-Araujo R, Harris-Love MO, Miljkovic I, Fragala MS, Anthony BW, Manini TM. The need for standardized assessment of muscle quality in skeletal muscle function deficit and other aging-related muscle dysfunctions: a symposium report. Front Physiol. 2017;8:87–138. doi:10.3389/fphys.2017.0008728261109
  • Frost RA, Lang CH. Multifaceted role of insulin-like growth factors and mammalian target of rapamycin in skeletal muscle. Endocrinol Metab Clin North Am. 2012;41(297–322). doi:10.1016/j.ecl.2012.04.012
  • Ten BRW, Grefte S, Jw VDH. Regulatory factors and cell populations involved in skeletal muscle regeneration. J Cell Physiol. 2010;224:7–16. doi:10.1002/jcp.2212720232319