Abnormal expression of seven myogenesis-related genes in extraocular muscles of patients with concomitant strabismus

Zhu,Yujuan; Deng,Daming; Long,Chongde; Jin,Guorong; Zhang,Qingjiong; Shen,Huangxuan

doi:10.3892/mmr.2012.1149

Abnormal expression of seven myogenesis-related genes in extraocular muscles of patients with concomitant strabismus

Authors:
- Yujuan Zhu
- Daming Deng
- Chongde Long
- Guorong Jin
- Qingjiong Zhang
- Huangxuan Shen
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Affiliations: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, P.R. China
Published online on: October 24, 2012 https://doi.org/10.3892/mmr.2012.1149
Pages: 217-222

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Abstract

Hyperplasia or hypoplasia of muscles gradually leads to strabismus. Myogenesis-related genes are involved in extraocular muscle development, including myogenic differentiation 1 (MYOD1), myogenin (MYOG), retinoblastoma 1 (RB1), cyclin-dependent kinase inhibitor 1A (P21), cyclin‑dependent kinase inhibitor 1C (P57), insulin-like growth factor 1 (IGF1) and muscle creatine kinase (MCK). This study evaluated the expression of the above seven myogenesis-related genes by real-time quantitative RT-PCR in 18 resected extrocular muscles of patients with concomitant strabismus and 12 normal control muscle samples from one presumably healthy male 6 h after sudden mortality. We found that although there was a great divergence among the expression levels of 6 myogenesis-related regulatory factors, the relative expression patterns were similar in all the normal muscles, including the synergistic, antagonistic and yoke muscles. However, their expression levels in the 18 diseased extraocular muscles were abnormal; the expression levels of all the genes, with the exception of P57, were reduced in most of the diseased muscle tissues. These results imply that the abnormal expression of these myogenesis-related genes may contribute to concomitant strabismus.

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1	Ziakas NG, Woodruff G, Smith LK and Thompson JR: A study of heredity as a risk factor in strabismus. Eye (London). 16:519–521. 2002. View Article : Google Scholar : PubMed/NCBI
2	Arora A, Williams B, Arora AK, McNamara R, Yates J and Fielder A: Decreasing strabismus surgery. Br J Ophthalmol. 89:409–412. 2005. View Article : Google Scholar : PubMed/NCBI
3	Hu DN: Prevalence and mode of inheritance of major genetic eye diseases in China. J Med Genet. 24:584–588. 1987. View Article : Google Scholar : PubMed/NCBI
4	Robaei D, Rose KA, Kifley A, Cosstick M, Ip JM and Mitchell P: Factors associated with childhood strabismus: findings from a population-based study. Ophthalmology. 113:1146–1153. 2006. View Article : Google Scholar : PubMed/NCBI
5	Abrahamsson M, Magnusson G and Sjöstrand J: Inheritance of strabismus and the gain of using heredity to determine populations at risk of developing strabismus. Acta Ophthalmol Scand. 77:653–657. 1999. View Article : Google Scholar : PubMed/NCBI
6	Mustari MJ and Ono S: Neural mechanisms for smooth pursuit in strabismus. Ann N Y Acad Sci. 1233:187–193. 2011. View Article : Google Scholar : PubMed/NCBI
7	Wilmer JB and Backus BT: Genetic and environmental contributions to strabismus and phoria: evidence from twins. Vision Res. 49:2485–2493. 2009. View Article : Google Scholar : PubMed/NCBI
8	Michaelides M and Moore AT: The genetics of strabismus. J Med Genet. 41:641–646. 2004. View Article : Google Scholar
9	Kushner BJ: Incomitant strabismus: does extraocular muscle form denote function? Arch Ophthalmol. 128:1604–1609. 2010. View Article : Google Scholar : PubMed/NCBI
10	Chang YH, Ma KT, Lee JB and Han SH: Anterior transposition of inferior oblique muscle for treatment of unilateral superior oblique muscle palsy with inferior oblique muscle overaction. Yonsei Med J. 45:609–614. 2004. View Article : Google Scholar : PubMed/NCBI
11	Yu X, Mai G, Yu H, Deng D, Lin X, Chen J and Wu H: Study on ocular torsion of V patterns strabismus. Yan Ke Xue Bao. 19:160–164. 2003.PubMed/NCBI
12	Mellott ML, Scott WE, Ganser GL and Keech RV: Marginal myotomy of the minimally overacting inferior oblique muscle in asymmetric bilateral superior oblique palsies. J AAPOS. 6:216–220. 2002. View Article : Google Scholar : PubMed/NCBI
13	Novitch BG, Spicer DB, Kim PS, Cheung WL and Lassar AB: pRb is required for MEF2-dependent gene expression as well as cell-cycle arrest during skeletal muscle differentiation. Curr Biol. 9:449–459. 1999. View Article : Google Scholar : PubMed/NCBI
14	Weintraub H, Davis R, Tapscott S, et al: The myoD gene family: nodal point during specification of the muscle cell lineage. Science. 251:761–766. 1991. View Article : Google Scholar : PubMed/NCBI
15	Hasty KA, Wu H, Byrne M, et al: Susceptibility of type I collagen containing mutated alpha 1(1) chains to cleavage by human neutrophil collagenase. Matrix. 13:181–186. 1993. View Article : Google Scholar : PubMed/NCBI
16	Apponi LH, Corbett AH and Pavlath GK: RNA-binding proteins and gene regulation in myogenesis. Trends Pharmacol Sci. 32:652–658. 2011. View Article : Google Scholar : PubMed/NCBI
17	Gu W, Schneider JW, Condorelli G, Kaushal S, Mahdavi V and Nadal-Ginard B: Interaction of myogenic factors and the retinoblastoma protein mediates muscle cell commitment and differentiation. Cell. 72:309–324. 1993. View Article : Google Scholar : PubMed/NCBI
18	Skapek SX, Pan YR and Lee EY: Regulation of cell lineage specification by the retinoblastoma tumor suppressor. Oncogene. 25:5268–5276. 2006. View Article : Google Scholar : PubMed/NCBI
19	Thomas DM, Carty SA, Piscopo DM, Lee JS, Wang WF, Forrester WC and Hinds PW: The retinoblastoma protein acts as a transcriptional coactivator required for osteogenic differentiation. Mol Cell. 8:303–316. 2001. View Article : Google Scholar : PubMed/NCBI
20	Hawke TJ, Meeson AP, Jiang N, Graham S, Hutcheson K, DiMaio JM and Garry DJ: p21 is essential for normal myogenic progenitor cell function in regenerating skeletal muscle. Am J Physiol Cell Physiol. 285:C1019–C1027. 2003. View Article : Google Scholar : PubMed/NCBI
21	Park CW and Chung JH: Age-dependent changes of p57(Kip2) and p21(Cip1/Waf1) expression in skeletal muscle and lung of mice. Biochim Biophys Acta. 1520:163–168. 2001. View Article : Google Scholar : PubMed/NCBI
22	Reynaud EG, Leibovitch MP, Tintignac LA, Pelpel K, Guillier M and Leibovitch SA: Stabilization of MyoD by direct binding to p57(Kip2). J Biol Chem. 275:18767–18776. 2000. View Article : Google Scholar : PubMed/NCBI
23	Zhang P, Wong C, Liu D, Finegold M, Harper JW and Elledge SJ: p21(CIP1) and p57(KIP2) control muscle differentiation at the myogenin step. Genes Dev. 13:213–224. 1999. View Article : Google Scholar : PubMed/NCBI
24	Guo K, Wang J, Andrés V, Smith RC and Walsh K: MyoD-induced expression of p21 inhibits cyclin-dependent kinase activity upon myocyte terminal differentiation. Mol Cell Biol. 15:3823–3829. 1995.PubMed/NCBI
25	Vaccarello G, Figliola R, Cramerotti S, Novelli F and Maione R: p57Kip2 is induced by MyoD through a p73-dependent pathway. J Mol Biol. 356:578–588. 2006. View Article : Google Scholar : PubMed/NCBI
26	Kandalla PK, Goldspink G, Butler-Browne G and Mouly V: Mechano growth factor E peptide (MGF-E), derived from an isoform of IGF-1, activates human muscle progenitor cells and induces an increase in their fusion potential at different ages. Mech Ageing Dev. 132:154–162. 2011. View Article : Google Scholar : PubMed/NCBI
27	Matheny RW Jr, Nindl BC and Adamo ML: Minireview: Mechano-growth factor: a putative product of IGF-I gene expression involved in tissue repair and regeneration. Endocrinology. 151:865–875. 2010. View Article : Google Scholar : PubMed/NCBI
28	Hill M and Goldspink G: Expression and splicing of the insulin-like growth factor gene in rodent muscle is associated with muscle satellite (stem) cell activation following local tissue damage. J Physiol. 549:409–418. 2003. View Article : Google Scholar : PubMed/NCBI
29	Spencer RF and Porter JD: Biological organization of the extraocular muscles. Prog Brain Res. 151:43–80. 2006. View Article : Google Scholar : PubMed/NCBI
30	Cornelison DD, Olwin BB, Rudnicki MA and Wold BJ: MyoD(−/−) satellite cells in single-fiber culture are differentiation defective and MRF4 deficient. Dev Biol. 224:122–137. 2000.
31	White JD, Scaffidi A, Davies M, McGeachie J, Rudnicki MA and Grounds MD: Myotube formation is delayed but not prevented in MyoD-deficient skeletal muscle: studies in regenerating whole muscle grafts of adult mice. J Histochem Cytochem. 48:1531–1544. 2000. View Article : Google Scholar : PubMed/NCBI
32	Schuierer MM, Mann CJ, Bildsoe H, Huxley C and Hughes SM: Analyses of the differentiation potential of satellite cells from myoD−/−, mdx, and PMP22 C22 mice. BMC Musculoskelet Disord. 6:152005.
33	Mokalled MH, Johnson AN, Creemers EE and Olson EN: MASTR directs MyoD-dependent satellite cell differentiation during skeletal muscle regeneration. Genes Dev. 26:190–202. 2012. View Article : Google Scholar : PubMed/NCBI
34	Lin X, Yang X, Li Q, et al: Protein tyrosine phosphatase-like A regulates myoblast proliferation and differentiation through MyoG and the cell cycling signaling pathway. Mol Cell Biol. 32:297–308. 2011. View Article : Google Scholar : PubMed/NCBI
35	Mastroyiannopoulos NP, Nicolaou P, Anayasa M, Uney JB and Phylactou LA: Down-regulation of myogenin can reverse terminal muscle cell differentiation. Plos One. 7:e298962012. View Article : Google Scholar : PubMed/NCBI
36	Burkhart DL and Sage J: Cellular mechanisms of tumour suppression by the retinoblastoma gene. Nat Rev Cancer. 8:671–682. 2008. View Article : Google Scholar : PubMed/NCBI
37	Chen TT and Wang JY: Establishment of irreversible growth arrest in myogenic differentiation requires the RB LXCXE-binding function. Mol Cell Biol. 20:5571–5580. 2000. View Article : Google Scholar : PubMed/NCBI
38	Sellers WR, Novitch BG, Miyake S, et al: Stable binding to E2F is not required for the retinoblastoma protein to activate transcription, promote differentiation, and suppress tumor cell growth. Genes Dev. 12:95–106. 1998. View Article : Google Scholar
39	Figliola R and Maione R: MyoD induces the expression of p57Kip2 in cells lacking p21Cip1/Waf1: overlapping and distinct functions of the two cdk inhibitors. J Cell Physiol. 200:468–475. 2004. View Article : Google Scholar : PubMed/NCBI