What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegeneration

Clinical Genetics

Volumn 81, Issue 4, 2012, Pages 325-333

  Ketelaar, M E ^a,b   Hofstra, R M W ^b   Hayden, M R ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

Disease discordance; Epigenetics; Genetics; Monozygotic twins; Neurodegeneration

Indexed keywords

ALZHEIMER DISEASE; DIFFUSE LEWY BODY DISEASE; EPIGENETICS; EYE MOVEMENT; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC DIFFERENCE; GENETIC VARIABILITY; GENOTYPE ENVIRONMENT INTERACTION; HUMAN; HUNTINGTON CHOREA; MEDICAL GENETICS; MONOZYGOTIC TWINS; NERVE DEGENERATION; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SPINOCEREBELLAR DEGENERATION; TWIN DISCORDANCE;

ALZHEIMER DISEASE; DNA METHYLATION; EPIGENESIS, GENETIC; HUMANS; HUNTINGTON DISEASE; NEURODEGENERATIVE DISEASES; PHENOTYPE; SPINOCEREBELLAR ATAXIAS; TWINS, MONOZYGOTIC;

EID: 84858294466     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01795.x     Document Type: Review

References (68)

1. Bertram L, Tanzi RE. The genetic epidemiology of neurodegenerative disease. J Clin Invest 2005: 115: 1449-1457.
2. Urdinguio RG, Sanchez-Mut JV, Esteller M. Epigenetic mechanisms in neurological diseases: genes, syndromes, and therapies. Lancet Neurol 2009: 8: 1056-1072.
3. Bertram L, Tanzi RE. Alzheimer disease: new light on an old CLU. Nat Rev Neurol 2010: 6: 11-13.
4. Brickell KL, Leverenz JB, Steinbart EJ et al. Clinicopathological concordance and discordance in three monozygotic twin pairs with familial alzheimer's disease. J Neurol Neurosurg Psychiatry 2007: 78: 1050-1055.
5. Gatz M, Pedersen NL, Crowe M, Fiske A. Defining discordance in twin studies of risk and protective factors for late life disorders. Twin Res 2000: 3: 159-164.
6. Durr A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol 2010: 9: 885-894.
7. Sturrock A, Leavitt BR. The clinical and genetic features of huntington disease. J Geriatr Psychiatry Neurol 2010: 23: 243-259.
8. Fraga MF, Ballestar E, Paz MF et al. Epigenetic differences arise during the lifetime of monozygotic twins. Proc Natl Acad Sci U S A 2005: 102: 10604-10609.
9. Kaminsky ZA, Tang T, Wang SC et al. DNA methylation profiles in monozygotic and dizygotic twins. Nat Genet 2009: 41: 240-245.
10. Bruder CE, Piotrowski A, Gijsbers AA et al. Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet 2008: 82: 763-771.
11. Maiti S, Kumar KH, Castellani CA, O'Reilly R, Singh SM. Ontogenetic de novo copy number variations (CNVs) as a source of genetic individuality: studies on two families with MZD twins for schizophrenia. PLoS One 2011: 6: e17125.
12. Boomsma D, Busjahn A, Peltonen L. Classical twin studies and beyond. Nat Rev Genet 2011: 3: 872-882.
13. Weksberg R, Shuman C, Caluseriu O et al. Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for beckwith-wiedemann syndrome. Hum Mol Genet 2002: 11: 1317-1325.
14. Anca MH, Gazit E, Loewenthal R, Ostrovsky O, Frydman M, Giladi N. Different phenotypic expression in monozygotic twins with huntington disease. Am J Med Genet 2004: 124A: 89-91.
15. Bird TD, Omenn GS. Monozygotic twins with huntington's disease in a family expressing the rigid variant. Neurology 1975: 25: 1126-1129.
16. Oepen H. Discordant features of MZ twin sisters with Huntington's chorea. Adv Neurol 1973: 1: 199-201.
17. Friedman JH, Trieschmann ME, Myers RH, Fernandez HH. Monozygotic twins discordant for huntington disease after 7 years. Arch Neurol 2005: 62: 995-997.
18. Georgiou N, Bradshaw JL, Chiu E, Tudor A, O'Gorman L, Phillips JG. Differential clinical and motor control function in a pair of monozygotic twins with huntington's disease. Mov Disord 1999: 14: 320-325.
19. Gomez-Esteban JC, Lezcano E, Zarranz JJ et al. Monozygotic twins suffering from huntington's disease show different cognitive and behavioural symptoms. Eur Neurol 2007: 57: 26-30.
20. Levy G, Nobre ME, Cimini VT, Raskin S, Engelhardt E. Juvenile huntington's disease confirmed by genetic examination in twins. Arq Neuropsiquiatr 1999: 57: 867-869.
21. Norremolle A, Hasholt L, Petersen CB et al. Mosaicism of the CAG repeat sequence in the huntington disease gene in a pair of monozygotic twins. Am J Med Genet 2004: 130A: 154-159.
22. Panas M, Karadima G, Markianos M, Kalfakis N, Vassilopoulos D. Phenotypic discordance in a pair of monozygotic twins with huntington's disease. Clin Genet 2008: 74: 291-292.
23. Sudarsky L, Myers RH, Walshe TM. Huntington's disease in monozygotic twins reared apart. J Med Genet 1983: 20: 408-411.
24. Anderson JH, Christova PS, Xie TD, Schott KS, Ward K, Gomez CM. Spinocerebellar ataxia in monozygotic twins. Arch Neurol 2002: 59: 1945-1951.
25. Harder A, Titze S, Herbst L et al. Monozygotic twins with neurofibromatosis type 1 (NF1) display differences in methylation of NF1 gene promoter elements, 5′ untranslated region, exon and intron 1. Twin Res Hum Genet 2010: 13: 582-594.
26. Warby SC, Visscher H, Collins JA et al. HTT haplotypes contribute to differences in huntington disease prevalence between europe and east asia. Eur J Hum Genet 2011: 19: 561-566.
27. Warby SC, Graham RK, Hayden MR. Huntington disease. GeneReviews. Seattle: University of Washington, 1993.
28. Langbehn DR, Brinkman RR, Falush D, Paulsen JS, Hayden MR. A new model for prediction of the age of onset and penetrance for huntington's disease based on CAG length. Clin Genet 2004: 65: 267-277.
29. Kimani JW, Yoshiura K, Shi M et al. Search for genomic alterations in monozygotic twins discordant for cleft lip and/or palate. Twin Res Hum Genet 2009: 12: 462-468.
30. Reynolds CA, Finkel D, Gatz M, Pedersen NL. Sources of influence on rate of cognitive change over time in swedish twins: an application of latent growth models. Exp Aging Res 2002: 28: 407-433.
31. MacDonald ME, Barnes G, Srinidhi J et al. Gametic but not somatic instability of CAG repeat length in huntington's disease. J Med Genet 1993: 30: 982-986.
32. Hayden MR. Huntington's chorea. Berlin: Springer-Verlag, 1993, 54-55.
33. Jelgersma HC. Monozygotic twins with concordant huntington's chorea and discordant hemiplegia. Folia Psychiatr Neurol Neurochir Neerl 1957: 60: 50-52.
34. Myrianthopoulos NC, Rowley PT. Monozygotic twins concordant for huntington's chorea. Neurology 1960: 10: 506-511.
35. Schiottz-Christensen E. Chorea huntington and epilepsy in monozygotic twins. Eur Neurol 1969: 2: 250-255.
36. Paulson HL. The spinocerebellar ataxias. J Neuroophthalmol 2009: 29: 227-237.
37. van de Warrenburg BP, Hendriks H, Durr A et al. Age at onset variance analysis in spinocerebellar ataxias: a study in a dutch-french cohort. Ann Neurol 2005: 57: 505-512.
38. Bekris LM, Yu CE, Bird TD, Tsuang DW. Genetics of alzheimer disease. J Geriatr Psychiatry Neurol 2010: 23: 213-227.
39. Thies W, Bleiler L. 2011 Alzheimer's disease facts and figures. Alzheimers Dement 2011: 7: 208-244.
40. Gatz M, Reynolds CA, Fratiglioni L et al. Role of genes and environments for explaining alzheimer disease. Arch Gen Psychiatry 2006: 63: 168-174.
41. Khachaturian AS, Corcoran CD, Mayer LS, Zandi PP, Breitner JC. Apolipoprotein E epsilon4 count affects age at onset of alzheimer disease, but not lifetime susceptibility: the cache county study. Arch Gen Psychiatry 2004: 61: 518-524.
42. Breitner JC, Welsh KA, Gau BA et al. Alzheimer's disease in the national academy of sciences-national research council registry of aging twin veterans III; detection of cases, longitudinal results, and observations on twin concordance. Arch Neurol 1995: 52: 763-771.
43. Steffens DC, Plassman BL, Helms MJ, Welsh-Bohmer KA, Newman TT, Breitner JC. APOE and AD concordance in twin pairs as predictors of AD in first-degree relatives. Neurology 2000: 54: 593-598.
44. Gatz M, Pedersen NL, Berg S et al. Heritability for alzheimer's disease: the study of dementia in swedish twins. J Gerontol A Biol Sci Med Sci 1997: 52: M117-M125.
45. Raiha I, Kaprio J, Koskenvuo M, Rajala T, Sourander L. Alzheimer's disease in finnish twins. Lancet 1996: 347: 573-578.
46. Haque FN, Gottesman II, Wong AH. Not really identical: epigenetic differences in monozygotic twins and implications for twin studies in psychiatry. Am J Med Genet C Semin Med Genet 2009: 151C: 136-141.
47. Bell JT, Spector TD. A twin approach to unraveling epigenetics. Trends Genet 2011: 27: 116-125.
48. Libby RT, Hagerman KA, Pineda VV et al. CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination. PLoS Genet 2008: 4: e1000257.
49. Wang Z, Zang C, Rosenfeld JA et al. Combinatorial patterns of histone acetylations and methylations in the human genome. Nat Genet 2008: 40: 897-903.
50. Kastern W, Kryspin-Sorensen I. Penetrance and low concordance in monozygotic twins in disease: are they the results of alterations in somatic genomes? Mol Reprod Dev 1988: 1: 63-75.
51. Cote GB, Gyftodimou J. Twinning and mitotic crossing-over: some possibilities and their implications. Am J Hum Genet 1991: 49: 120-130.
52. Itsara A, Wu H, Smith JD et al. De novo rates and selection of large copy number variation. Genome Res 2010: 20: 1469-1481.
53. Nachman MW, Crowell SL. Estimate of the mutation rate per nucleotide in humans. Genetics 2000: 156: 297-304.
54. Kaplan L, Foster R, Shen Y et al. Monozygotic twins discordant for neurofibromatosis 1. Am J Med Genet 2010: 152A: 601-606.
55. Kondo S, Schutte BC, Richardson RJ et al. Mutations in IRF6 cause van der woude and popliteal pterygium syndromes. Nat Genet 2002: 32: 285-289.
56. Baranzini SE, Mudge J, van Velkinburgh JC et al. Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis. Nature 2010: 464: 1351-1356.
57. Telenius H, Kremer B, Goldberg YP et al. Somatic and gonadal mosaicism of the huntington disease gene CAG repeat in brain and sperm. Nat Genet 1994: 6: 409-414.
58. Swami M, Hendricks AE, Gillis T et al. Somatic expansion of the huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset. Hum Mol Genet 2009: 18: 3039-3047.
59. Kuhlenbaumer G, Hullmann J, Appenzeller S. Novel genomic techniques open new avenues in the analysis of monogenic disorders. Hum Mutat 2011: 32: 144-151.
60. Aparicio SA, Huntsman DG. Does massively parallel DNA resequencing signify the end of histopathology as we know it? J Pathol 2010: 220: 307-315.
61. Lee JM, Zhang J, Su AI et al. A novel approach to investigate tissue-specific trinucleotide repeat instability. BMC Syst Biol 2010: 4: 29.
62. Imelfort M, Batley J, Grimmond S, Edwards D. Genome sequencing approaches and successes. Methods Mol Biol 2009: 513: 345-358.
63. Laird PW. Principles and challenges of genomewide DNA methylation analysis. Nat Rev Genet 2010: 11: 191-203.
64. Wojdacz TK, Moller TH, Thestrup BB, Kristensen JS, Hansen LL. Limitations and advantages of MS-HRM and bisulfite sequencing for single locus methylation studies. Expert Rev Mol Diagn 2010: 10: 575-580.
65. Tanner CM. Advances in environmental epidemiology. Mov Disord 2010: 25 (Suppl. 1): S58-S62.
66. Kell DB. Towards a unifying, systems biology understanding of large-scale cellular death and destruction caused by poorly liganded iron: Parkinson's, Huntington's, Alzheimer's, prions, bactericides, chemical toxicology and others as examples. Arch Toxicol 2010: 84: 825-889.
67. Erlich Y. Blood ties: chimerism can mask twin discordance in high-throughput sequencing. Twin Res Hum Genet 2011: 14: 137-143.
68. Bansal V. A statistical method for the detection of variants from next-generation resequencing of DNA pools. Bioinformatics 2010: 26: i318-i324.