Table of Contents Author Guidelines Submit a Manuscript
BioMed Research International
Volume 2017, Article ID 8193892, 14 pages
https://doi.org/10.1155/2017/8193892
Review Article

DNA Damage as a Driver for Growth Delay: Chromosome Instability Syndromes with Intrauterine Growth Retardation

1Laboratorio de Citogenética, Instituto Nacional de Pediatría, Mexico City, Mexico
2Programa de Doctorado en Ciencias Biomédicas, UNAM, Mexico City, Mexico
3Universidad Anáhuac, Mexico City, Mexico
4Departamento de Genética, Instituto Nacional de Perinatología, Mexico City, Mexico
5Instituto de Investigaciones Biomédicas, UNAM, Mexico City, Mexico

Correspondence should be addressed to Sara Frías; xm.manu.sacidemoib@sairfaras

Received 4 February 2017; Revised 16 June 2017; Accepted 17 July 2017; Published 12 November 2017

Academic Editor: Vassilios Fanos

Copyright © 2017 Benilde García-de Teresa et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. K. W. J. Derks, J. H. J. Hoeijmakers, and J. Pothof, “The DNA damage response: The omics era and its impact,” DNA Repair, vol. 19, pp. 214–220, 2014. View at Publisher · View at Google Scholar · View at Scopus
  2. S. P. Jackson and J. Bartek, “The DNA-damage response in human biology and disease,” Nature, vol. 461, no. 7267, pp. 1071–1078, 2009. View at Publisher · View at Google Scholar · View at Scopus
  3. J. H. J. Hoeijmakers, “DNA damage, aging, and cancer,” The New England Journal of Medicine, vol. 361, no. 15, pp. 1475–1485, 2009. View at Publisher · View at Google Scholar · View at Scopus
  4. G. Spivak, “Nucleotide excision repair in humans,” DNA Repair, vol. 36, pp. 13–18, 2015. View at Publisher · View at Google Scholar · View at Scopus
  5. J. Vijg, X. Dong, B. Milholland, and L. Zhang, “Genome instability: a conserved mechanism of ageing?” Essays in Biochemistry, vol. 61, no. 3, pp. 305–315, 2017. View at Publisher · View at Google Scholar
  6. J. I. Garaycoechea and K. J. Patel, “Why does the bone marrow fail in Fanconi anemia?” Blood, vol. 123, no. 1, pp. 26–34, 2014. View at Publisher · View at Google Scholar · View at Scopus
  7. R. Ceccaldi, B. Rondinelli, and A. D. D'Andrea, “Repair Pathway Choices and Consequences at the Double-Strand Break,” Trends in Cell Biology, vol. 26, no. 1, pp. 52–64, 2016. View at Publisher · View at Google Scholar · View at Scopus
  8. R. Biehs, M. Steinlage, O. Barton et al., “DNA Double-Strand Break Resection Occurs during Non-homologous End Joining in G1 but Is Distinct from Resection during Homologous Recombination,” Molecular Cell, vol. 65, no. 4, pp. 671–684.e5, 2017. View at Publisher · View at Google Scholar · View at Scopus
  9. A. Ciccia and S. J. Elledge, “The DNA damage response: making it safe to play with knives,” Molecular Cell, vol. 40, no. 2, pp. 179–204, 2010. View at Publisher · View at Google Scholar · View at Scopus
  10. L. H. Pearl, A. C. Schierz, S. E. Ward, B. Al-Lazikani, and F. M. G. Pearl, “Therapeutic opportunities within the DNA damage response,” Nature Reviews Cancer, vol. 15, no. 3, pp. 166–180, 2015. View at Publisher · View at Google Scholar · View at Scopus
  11. S.-F. Yang, C.-W. Chang, R.-J. Wei, Y.-L. Shiue, S.-N. Wang, and Y.-T. Yeh, “Involvement of DNA damage response pathways in hepatocellular carcinoma,” BioMed Research International, vol. 2014, Article ID 153867, 2014. View at Publisher · View at Google Scholar · View at Scopus
  12. M. He, W. Zhou, C. Li, and M. Guo, “MicroRNAs, DNA damage response, and cancer treatment,” International Journal of Molecular Sciences, vol. 17, no. 12, article no. 2087, 2016. View at Publisher · View at Google Scholar · View at Scopus
  13. K. A. Cimprich and D. Cortez, “ATR: an essential regulator of genome integrity,” Nature Reviews Molecular Cell Biology, vol. 9, no. 8, pp. 616–627, 2008. View at Publisher · View at Google Scholar · View at Scopus
  14. B. M. Sirbu and D. Cortez, “DNA damage response: three levels of DNA repair regulation,” Cold Spring Harbor Perspectives in Biology, vol. 5, article a012724, no. 8, 2013. View at Google Scholar · View at Scopus
  15. C. Beck, I. Robert, B. Reina-San-Martin, V. Schreiber, and F. Dantzer, “Poly(ADP-ribose) polymerases in double-strand break repair: focus on PARP1, PARP2 and PARP3,” Experimental Cell Research, vol. 329, no. 1, pp. 18–25, 2014. View at Publisher · View at Google Scholar · View at Scopus
  16. D. W. Meek, “Tumour suppression by p53: a role for the DNA damage response?” Nature Reviews Cancer, vol. 9, no. 10, pp. 714–723, 2009. View at Publisher · View at Google Scholar · View at Scopus
  17. A. Rodríguez, L. Torres, U. Juárez et al., “Fanconi anemia cells with unrepaired DNA damage activate components of the checkpoint recovery process,” Theoretical Biology and Medical Modelling, vol. 12, no. 1, article 11, 2015. View at Publisher · View at Google Scholar · View at Scopus
  18. H. Wang, X. Zhang, L. Teng, and R. J. Legerski, “DNA damage checkpoint recovery and cancer development,” Experimental Cell Research, vol. 334, no. 2, pp. 350–358, 2015. View at Publisher · View at Google Scholar
  19. P. A. Jeggo, L. H. Pearl, and A. M. Carr, “DNA repair, genome stability and cancer: A historical perspective,” Nature Reviews Cancer, vol. 16, no. 1, pp. 35–42, 2016. View at Publisher · View at Google Scholar · View at Scopus
  20. F. S. Alkuraya, “Primordial dwarfism: An update,” Current Opinion in Endocrinology, Diabetes and Obesity, vol. 22, no. 1, pp. 55–64, 2015. View at Publisher · View at Google Scholar · View at Scopus
  21. P. Fortini, C. Ferretti, and E. Dogliotti, “The response to DNA damage during differentiation: pathways and consequences,” Mutation Research—Fundamental and Molecular Mechanisms of Mutagenesis, vol. 743-744, pp. 160–168, 2013. View at Publisher · View at Google Scholar · View at Scopus
  22. B. R. Adams, S. E. Golding, R. R. Rao, and K. Valerie, “Dynamic dependence on ATR and ATM for double-Strand break repair in human embryonic stem cells and neural descendants,” PLoS ONE, vol. 5, article e10001, no. 4, 2010. View at Publisher · View at Google Scholar · View at Scopus
  23. A. Klingseisen and A. P. Jackson, “Mechanisms and pathways of growth failure in primordial dwarfism,” Genes & Development, vol. 25, no. 19, pp. 2011–2024, 2011. View at Publisher · View at Google Scholar · View at Scopus
  24. H. Mokrani-Benhelli, L. Gaillard, P. Biasutto et al., “Primary Microcephaly, Impaired DNA Replication, and Genomic Instability Caused by Compound Heterozygous ATR Mutations,” Human Mutation, vol. 34, no. 2, pp. 374–384, 2013. View at Publisher · View at Google Scholar · View at Scopus
  25. M. O'Driscoll, A. R. Gennery, J. Seidel, P. Concannon, and P. A. Jeggo, “An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome,” DNA Repair, vol. 3, no. 8-9, pp. 1227–1235, 2004. View at Publisher · View at Google Scholar · View at Scopus
  26. P. Khetarpal, S. Das, I. Panigrahi, and A. Munshi, “Primordial dwarfism: overview of clinical and genetic aspects,” Molecular Genetics and Genomics, vol. 291, no. 1, pp. 1–15, 2016. View at Publisher · View at Google Scholar · View at Scopus
  27. T. Ogi, S. Walker, T. Stiff et al., “Identification of the First ATRIP-Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR-ATRIP Seckel Syndrome,” PLoS Genetics, vol. 8, no. 11, Article ID e1002945, 2012. View at Publisher · View at Google Scholar · View at Scopus
  28. A. Verloes, S. Drunat, and P. Gressens, Primary autosomal recessive microcephalies and Seckel syndrome spectrum disorders, 2013.
  29. A. D. Brown, B. W. Sager, A. Gorthi, S. S. Tonapi, E. J. Brown, and A. J. R. Bishop, “ATR suppresses endogenous DNA damage and allows completion of homologous recombination repair,” PLoS ONE, vol. 9, article e91222, no. 3, 2014. View at Publisher · View at Google Scholar · View at Scopus
  30. E. J. Brown and D. Baltimore, “Essential and dispensable roles of ATR in cell cycle arrest and genome maintenance,” Genes & Development, vol. 17, no. 5, pp. 615–628, 2003. View at Publisher · View at Google Scholar · View at Scopus
  31. B. Fitzgerald, M. O'Driscoll, K. Chong, S. Keating, and P. Shannon, “Neuropathology of fetal stage Seckel syndrome: A case report providing a morphological correlate for the emerging molecular mechanisms,” Brain & Development, vol. 34, no. 3, pp. 238–243, 2012. View at Publisher · View at Google Scholar · View at Scopus
  32. L. I. Mullee and C. G. Morrison, “Centrosomes in the DNA damage response—the hub outside the centre,” Chromosome Research, vol. 24, no. 1, pp. 35–51, 2016. View at Publisher · View at Google Scholar · View at Scopus
  33. K. M. Takikawa, A. Kikuchi, A. Yokoyama et al., “Perinatal findings of Seckel syndrome: A case report of a fetus showing primordial dwarfism and severe microcephaly,” Fetal Diagnosis and Therapy, vol. 24, no. 4, pp. 405–408, 2009. View at Publisher · View at Google Scholar · View at Scopus
  34. Y. Ruzankina, C. Pinzon-Guzman, A. Asare et al., “Deletion of the Developmentally Essential Gene ATR in Adult Mice Leads to Age-Related Phenotypes and Stem Cell Loss,” Cell Stem Cell, vol. 1, no. 1, pp. 113–126, 2007. View at Publisher · View at Google Scholar · View at Scopus
  35. N. E. Mamrak, A. Shimamura, and N. G. Howlett, “Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia,” Blood Reviews, vol. 31, no. 3, pp. 93–99, 2017. View at Publisher · View at Google Scholar · View at Scopus
  36. B. P. Alter, “Diagnosis, Genetics, and Management of Inherited Bone Marrow Failure Syndromes,” International Journal of Hematology, vol. 2007, no. 1, pp. 29–39, 2007. View at Publisher · View at Google Scholar
  37. L. B. Pontel, I. V. Rosado, G. Burgos-Barragan et al., “Endogenous Formaldehyde Is a Hematopoietic Stem Cell Genotoxin and Metabolic Carcinogen,” Molecular Cell, vol. 60, no. 1, pp. 177–188, 2015. View at Publisher · View at Google Scholar · View at Scopus
  38. G. Pagano, P. Degan, M. D'Ischia et al., “Oxidative stress as a multiple effector in Fanconi anaemia clinical phenotype,” European Journal of Haematology, vol. 75, no. 2, pp. 93–100, 2005. View at Publisher · View at Google Scholar · View at Scopus
  39. P. F. Giampietro, P. C. Verlander, J. G. Davis, and A. D. Auerbach, “Diagnosis of Fanconi anemia in patients without congenital malformations: An International Fanconi Anemia Registry study,” American Journal of Medical Genetics, vol. 68, no. 1, pp. 58–61, 1997. View at Publisher · View at Google Scholar · View at Scopus
  40. P. F. Giampietro, B. Adler-Brecher, P. C. Verlander, S. G. Pavlakis, J. G. Davis, and A. D. Auerbach, “The need for more accurate and timely diagnosis in Fanconi anemia: A report from the International Fanconi Anemia Registry,” Pediatrics, vol. 91, no. 6, pp. 1116–1120, 1993. View at Google Scholar · View at Scopus
  41. M. P. Wajnrajch, J. M. Gertner, Z. Huma et al., “Evaluation of growth and hormonal status in patients referred to the international fanconi anemia registry,” Pediatrics, vol. 107, no. 4 I, pp. 744–754, 2001. View at Publisher · View at Google Scholar · View at Scopus
  42. N. Giri, D. L. Batista, B. P. Alter, and C. A. Stratakis, “Endocrine abnormalities in patients with fanconi anemia,” The Journal of Clinical Endocrinology & Metabolism, vol. 92, no. 7, pp. 2624–2631, 2007. View at Publisher · View at Google Scholar · View at Scopus
  43. S. R. Rose, K. C. Myers, M. M. Rutter et al., “Endocrine phenotype of children and adults with Fanconi anemia,” Pediatric Blood & Cancer, vol. 59, no. 4, pp. 690–696, 2012. View at Publisher · View at Google Scholar · View at Scopus
  44. A. D. Auerbach, B. Adler, and R. S. K. Chaganti, “Prenatal and postnatal diagnosis and carrier detection of Fanconi anemia by a cytogenetic method,” Pediatrics, vol. 67, no. 1, pp. 128–135, 1981. View at Google Scholar · View at Scopus
  45. A. D. Auerbach, M. Sagi, and B. Adler, “Fanconi anemia: Prenatal diagnosis in 30 fetuses at risk,” Pediatrics, vol. 76, no. 5, pp. 794–800, 1985. View at Google Scholar · View at Scopus
  46. L. Faivre, M. F. Portnoï, G. Pals et al., “Should chromosome breakage studies be performed in patients with VACTERL association?” American Journal of Medical Genetics, vol. 137, no. 1, pp. 55–58, 2005. View at Publisher · View at Google Scholar · View at Scopus
  47. B. P. Alter, P. S. Rosenberg, and L. C. Brody, “Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2,” Journal of Medical Genetics, vol. 44, no. 1, pp. 1–9, 2007. View at Publisher · View at Google Scholar · View at Scopus
  48. K. Myers, S. M. Davies, R. E. Harris et al., “The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations,” Pediatric Blood & Cancer, vol. 58, no. 3, pp. 462–465, 2012. View at Publisher · View at Google Scholar · View at Scopus
  49. B. G. Yoon, H. N. Kim, U. J. Han et al., “Long-term follow-up of Fanconi anemia: Clinical manifestation and treatment outcome,” Korean Journal of Pediatrics, vol. 57, no. 3, pp. 125–134, 2014. View at Publisher · View at Google Scholar · View at Scopus
  50. J. G. Hall, “Review and hypothesis: Syndromes with severe intrauterine growth restriction and very short stature - Are they related to the epigenetic mechanism(s) of fetal survival involved in the developmental origins of adult health and disease?” American Journal of Medical Genetics Part A, vol. 152, no. 2, pp. 512–527, 2010. View at Publisher · View at Google Scholar · View at Scopus
  51. A. Petryk, R. K. Shankar, N. Giri et al., “Endocrine disorders in Fanconi anemia: Recommendations for screening and treatment,” The Journal of Clinical Endocrinology & Metabolism, vol. 100, no. 3, pp. 803–811, 2015. View at Publisher · View at Google Scholar · View at Scopus
  52. S. R. Rose, M. M. Rutter, R. Mueller et al., “Bone mineral density is normal in children with Fanconi anemia,” Pediatric Blood & Cancer, vol. 57, no. 6, pp. 1034–1038, 2011. View at Publisher · View at Google Scholar · View at Scopus
  53. A. Petryk, L. E. Polgreen, J. L. Barnum et al., “Bone mineral density in children with fanconi anemia after hematopoietic cell transplantation,” Biology of Blood and Marrow Transplantation, vol. 21, no. 5, pp. 894–899, 2015. View at Publisher · View at Google Scholar · View at Scopus
  54. R. Purkait, A. Mukherji, S. Datta, and R. Bhadra, “Renal artery stenosis: An unusual etiology of hypertensive encephalopathy in a child with fanconi anemia,” Saudi Journal of Kidney Diseases and Transplantation, vol. 26, no. 4, pp. 778–782, 2015. View at Publisher · View at Google Scholar
  55. K. H. Chrzanowska, H. Gregorek, B. Dembowska-Bagińska, M. A. Kalina, and M. Digweed, “Nijmegen breakage syndrome (NBS),” Orphanet Journal of Rare Diseases, vol. 7, article 13, 2012. View at Publisher · View at Google Scholar · View at Scopus
  56. L. C. Riches, A. M. Lynch, and N. J. Gooderham, “Early events in the mammalian response to DNA double-strand breaks,” Mutagenesis, vol. 23, no. 5, pp. 331–339, 2008. View at Publisher · View at Google Scholar · View at Scopus
  57. K. Chrzanowska, M. Kalina, H. Rysiewski et al., “Growth pattern in patients with Nijmegen breakage syndrome: evidence from a longitudinal study,” Hormone Research in Paediatrics, vol. 74, article S38, 2010. View at Google Scholar
  58. Group TINBSS, “Nijmegen breakage syndrome,” Archives of Disease in Childhood, vol. 82, pp. 400–406, 2000. View at Google Scholar
  59. M. Digweed and K. Sperling, “Nijmegen breakage syndrome: Clinical manifestation of defective response to DNA double-strand breaks,” DNA Repair, vol. 3, no. 8-9, pp. 1207–1217, 2004. View at Publisher · View at Google Scholar · View at Scopus
  60. E. Seemanová, “An increased risk for malignant neoplasms in heterozygotes for a syndrome of microcephaly, normal intelligence, growth retardation, remarkable facies, immunodeficiency and chromosomal instability,” Mutation Research/Reviews in Genetic Toxicology, vol. 238, no. 3, pp. 321–324, 1990. View at Publisher · View at Google Scholar · View at Scopus
  61. K. H. Chrzanowska, M. Szarras-Czapnik, M. Gajdulewicz et al., “High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage syndrome: Evidence from a longitudinal study,” The Journal of Clinical Endocrinology & Metabolism, vol. 95, no. 7, pp. 3133–3140, 2010. View at Publisher · View at Google Scholar · View at Scopus
  62. C. M. R. Weemaes, T. W. J. Hustinx, J. M. J. C. Scheres, P. J. J. V. Munster, J. A. J. M. Bakkeren, and R. D. F. M. Taalman, “A new chromosomal instability disorder: The nijmegen breakage syndrome,” Acta Paediatrica Scandinavica, vol. 70, no. 4, pp. 557–564, 1981. View at Publisher · View at Google Scholar · View at Scopus
  63. A. J. Green, J. R. W. Yates, A. M. R. Taylor et al., “Severe microcephaly with normal intellectual development: The Nijmegen breakage syndrome,” Archives of Disease in Childhood, vol. 73, no. 5, pp. 431–434, 1995. View at Publisher · View at Google Scholar · View at Scopus
  64. D. Gupta and A. Nagarkar, “Speech impairment in Nijmegen breakage syndrome: A rare anomaly,” International Journal of Pediatric Otorhinolaryngology, vol. 73, no. 6, pp. 873–875, 2009. View at Publisher · View at Google Scholar · View at Scopus
  65. P. Muschke, H. Gola, R. Varon et al., “Retrospective diagnosis and subsequent prenatal diagnosis of Nijmegen breakage syndrome,” Prenatal Diagnosis, vol. 24, no. 2, pp. 111–113, 2004. View at Publisher · View at Google Scholar · View at Scopus
  66. S. Pasic, M. Cupic, T. Jovanovic, S. Djukic, M. Kavaric, and I. Lazarevic, “Nijmegen breakage syndrome and chronic polyarthritis,” Italian Journal of Pediatrics, vol. 39, no. 1, article no. 59, 2013. View at Publisher · View at Google Scholar · View at Scopus
  67. J. P. Patel, J. M. Puck, R. Srinivasan et al., “Nijmegen Breakage Syndrome Detected by Newborn Screening for T Cell Receptor Excision Circles (TRECs),” Journal of Clinical Immunology, vol. 35, no. 2, pp. 227–233, 2015. View at Publisher · View at Google Scholar · View at Scopus
  68. I. Demuth and M. Digweed, “The clinical manifestation of a defective response to DNA double-strand breaks as exemplified by Nijmegen breakage syndrome,” Oncogene, vol. 26, no. 56, pp. 7792–7798, 2007. View at Publisher · View at Google Scholar · View at Scopus
  69. H. Arora, A. H. Chacon, S. Choudhary et al., “Bloom syndrome,” International Journal of Dermatology, vol. 53, no. 7, pp. 798–802, 2014. View at Publisher · View at Google Scholar · View at Scopus
  70. C. de Renty and N. A. Ellis, “Bloom's syndrome: Why not premature aging?: A comparison of the BLM and WRN helicases,” Ageing Research Reviews, vol. 33, pp. 36–51, 2017. View at Publisher · View at Google Scholar · View at Scopus
  71. C. Keller, K. R. Keller, S. B. Shew, and S. E. Plon, “Growth deficiency and malnutrition in Bloom syndrome,” Journal of Pediatrics, vol. 134, no. 4, pp. 472–479, 1999. View at Publisher · View at Google Scholar · View at Scopus
  72. A. Diaz, M. G. Vogiatzi, M. M. Sanz, and J. German, “Evaluation of short stature, carbohydrate metabolism and other endocrinopathies in Bloom's syndrome,” Hormone Research, vol. 66, no. 3, pp. 111–117, 2006. View at Publisher · View at Google Scholar · View at Scopus
  73. C. Ling, J. Huang, Z. Yan et al., “Bloom syndrome complex promotes FANCM recruitment to stalled replication forks and facilitates both repair and traverse of DNA interstrand crosslinks,” Cell Discovery, vol. 2, article 16047, 2016. View at Publisher · View at Google Scholar
  74. J. S. Renes, R. H. Willemsen, A. Wagner, M. J. J. Finken, and A. C. S. Hokken-Koelega, “Bloom syndrome in short children born small for gestational age: A challenging diagnosis,” The Journal of Clinical Endocrinology & Metabolism, vol. 98, no. 10, pp. 3932–3938, 2013. View at Publisher · View at Google Scholar · View at Scopus
  75. M. Maciejczyk, B. Mikoluc, B. Pietrucha et al., “Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome,” Redox Biology, vol. 11, pp. 375–383, 2017. View at Publisher · View at Google Scholar · View at Scopus
  76. R. M. Brosh, M. Bellani, Y. Liu, and M. M. Seidman, “Fanconi Anemia: A DNA repair disorder characterized by accelerated decline of the hematopoietic stem cell compartment and other features of aging,” Ageing Research Reviews, vol. 33, pp. 67–75, 2017. View at Publisher · View at Google Scholar · View at Scopus
  77. S. Yan, M. Sorrell, and Z. Berman, “Functional interplay between ATM/ATR-mediated DNA damage response and DNA repair pathways in oxidative stress,” Cellular and Molecular Life Sciences, vol. 71, no. 20, pp. 3951–3967, 2014. View at Publisher · View at Google Scholar · View at Scopus
  78. L. M. M. Nardozza, A. C. R. Caetano, A. C. P. Zamarian et al., “Fetal growth restriction: current knowledge,” Archives of Gynecology and Obstetrics, vol. 295, no. 5, pp. 1061–1077, 2017. View at Publisher · View at Google Scholar · View at Scopus
  79. M. Tomás Vila, J. P. Verdú, M. R. Piera, and C. O. Alonso, “Nijmegen breakage syndrome phenotype: a disorder to consider in the diagnosis of microcephaly,” Anales De Pediatria, vol. 74, pp. 58–60, 2011. View at Google Scholar