Diseases caused by triplet expansion;Enfermedades causadas por expansión de tripletes

Revista de Neurologia

Volumn 49, Issue 2, 2009, Pages 79-87

  Rosales Reynoso, M A ^a   Ochoa Hernandez A B ^a   Barros Núñez, Patricio ^a  

^a CENTRO DE INVESTIGACIÓN BIOMÉDICA DE OCCIDENTE   (Mexico)

Author keywords

Dynamic mutation mechanisms; Fragile X syndrome; Huntington's disease; Myotonic dystrophy; Neurodegenerative diseases; Spinocerebellar ataxia; Triplet expansion

Indexed keywords

ANDROGEN RECEPTOR; ATAXIN 1; ATAXIN 3; ATAXIN 7; DNA; HUNTINGTIN; POLYGLUTAMINE; TRINUCLEOTIDE;

CEREBELLAR ATAXIA; DENTATORUBROPALLIDOLUYSIAN ATROPHY; FRAGILE X SYNDROME; FRIEDREICH ATAXIA; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC RECOMBINATION; HAPLOTYPE; HUMAN; HUNTINGTON CHOREA; KENNEDY DISEASE; MACHADO JOSEPH DISEASE; MOLECULAR INTERACTION; MUSCLE ATROPHY; MYOTONIC DYSTROPHY; PATHOGENESIS; PATHOPHYSIOLOGY; PHENOTYPE; PREMATURE OVARIAN FAILURE; REVIEW; SPINAL MUSCULAR ATROPHY; SPINOCEREBELLAR DEGENERATION; TRINUCLEOTIDE REPEAT;

EID: 69449093682     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.4902.2008633     Document Type: Review

References (63)

1. Ashley CT, Warren ST. Trinucleotide repeat expansion and human disease. Annu Rev Genet 1995; 29: 703-728
2. Sinden RR. Human genetics 99: biological implications of the DNA structures associated with disease causing triplet repeats. Am J Hum Genet 1999; 64: 346-353
3. Galvaó R, Soares LM, Camara J, Jaco I, Carmo-Fonseca M. Triplet repeats, RNA secondary structure and toxic gain-of-function models for pathogenesis. Brain Res Bull 2001; 56: 191-201.
4. Usdin K, Grabczyk E. DNA repeat expansions and human disease. Cell Mol Life Sci 2000; 57: 914-931 (Pubitemid 30461833)
5. Cummings CJ, Zoghbi HY. Trinucleotide repeats: mechanisms and pathophysiology. Annu Rev Genomics Hum Genet 2000; 1: 281-328.
6. Orr HT, Zoghbi HY. Trinucleotide repeat disorders. Annu Rev Neurosci 2007; 30: 575-621.
7. Wells RD. Molecular basis of genetic instability of triplet repeats. J Biol Chem 1996; 71: 2875-2878 (Pubitemid 26055583)
8. Pearson CE, Edamura KN, Cleary JD. Repeat instability: mechanism of dynamic mutations. Nat Rev 2005; 10: 729-742
9. Warren ST, Sherman SL. The fragile X syndrome. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease. 7 ed. New York: McGraw-Hill; 2001. p. 795-810.
10. Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, 2007. URL: http://www.ncbi.nlm.nih.gov/omim.
11. Jin P, Warren ST. Understanding the molecular basis of fragile X syndrome. Hum Mol Genet 2000; 9: 901-908 (Pubitemid 30216101)
12. Glóver-López G, Guillén-Navarro E. Síndrome X frágil. Rev Neurol 2006; 42 (Supl 1): S51-4.
13. Ferrando-Lucas M, Puente-Ferreras A. Niñas con síndrome X frágil: un modelo de los trastornos específicos del desarrollo. Rev Neurol 2008; 46 (Supl 1): S17-9. (Pubitemid 351767852)
14. Hagerman RJ. Physical and behavioral phenotype. In Hagerman RJ, Cronister AC, eds. Fragile X syndrome: diagnosis, treatment and research. 2 ed. Baltimore: Johns Hopkins University Press; 1996. p. 3-87.
15. Siomi H, Siomi MC, Nussbaum RL, Dreyfuss G. The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein. Cell 1993; 74: 291-298 (Pubitemid 23221705)
16. Eichler EE, Richards S, Gibbs RA Nelson DL. Fine structure of the human FMR1 gene. Hum Mol Genet 1993; 2: 1147-1153 (Pubitemid 23244991)
17. Bardoni B, Schenck A, Mandel JL. The fragile X mental retardation protein. Brain Res Bull 2001; 56: 375-382
18. Castro-Volio I, Cuenca-Berger P. Trastornos del neurodesarrollo (síndrome X frágil) y neurodegenerativos (síndrome de temblor/ataxia) asociados al crecimiento de un gen. Rev Neurol 2005; 40: 431-437 (Pubitemid 46639022)
19. Greco CM, Berman RF, Martin RM, Tassone F, Schwartz PH. Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain 2006; 129: 243-255 (Pubitemid 43063775)
20. Hagerman PJ, Hagerman RJ. Fragile X-associated tremor/ataxia syndrome (FXTAS). Ment Retard Dev Disabil Res Rev 2004; 10: 25-30. (Pubitemid 38375350)
21. Hagerman PJ, Greco CM, Hagerman RJ. A cerebellar tremor/ataxia syndrome among fragile X premutation carriers. Cytogenet Genome Res 2003; 100: 206-212 (Pubitemid 37467808)
22. Hessl D, Rivera SM, Reiss AL. The neuroanatomy and neuroendocrinology of fragile X syndrome. Ment Retard Dev Disabil Res Rev 2004; 10: 17-24.
23. Toft M, Aasly J, Bisceglio G, Adler CH, Uitti RJ, Krugowska-Wajs A, et al. Parkinsonism, FXTAS, and FMR1 premutations. Mov Disord 2005; 20: 230-232
24. Wittenberger MD, Hagerman RJ, Sherman SL, McConkie-Rosell A, Welt CK, Rebar RW, et al. The FMR1 premutation and reproduction. Fertility and Reproduction 2007; 87: 456-465
25. Murray A. Premature ovarian failure and the FMR1 gene. Semin Reprod Med 2000; 18: 59-66. (Pubitemid 32182822)
26. Sherman SL. Premature ovarian failure in the fragile X syndrome. Am J Med Genet 2000; 97: 189-194 (Pubitemid 32059206)
27. Harding AE. Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 1981; 104: 589-620.
28. Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996; 271: 1423-1427 (Pubitemid 26089479)
29. Cossee M, Schmitt M, Campuzano V, Reutenauer L, Moutou C, Mandel JL, et al. Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations. Proc Natl Acad Sci U S A 1997; 94: 7452-7457 (Pubitemid 27345336)
30. Montermini L, Andermann E, Labuda M, Richter A, Pandolfo M, Cavalcanti F, et al. The Friedreich ataxia GAA triplet repeat: premutation and normal alleles. Hum Mol Genet 1997; 6: 1261-1266 (Pubitemid 27351065)
31. De Michele G, Cavalcanti F, Criscuolo C, Pianese L, Monticelli A, Filla A, et al. Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia. Hum Mol Genet 1998; 7: 1901-1906 (Pubitemid 28499421)
32. Monrós E, Moltó MD, Martínez F, Cañizares J, Blanca J, Vílchez JJ, et al. Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat. Am J Hum Genet 1997; 61: 101-110 (Pubitemid 27323329)
33. Gibson TJ, Koonin EV, Musco G, Pastore A, Bork P. Friedreich's ataxia protein: phylogenetic evidence for mitochondrial dysfunction. Trends Neurosci 1996; 19: 465-468 (Pubitemid 26359860)
34. Wilson RB, Roof DM. Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue. Nat Genet 1997; 16: 352-357
35. Sakamoto N, Chastain PD, Parniewski P, Ohshima K, Pandolfo M, Griffith JD, et al. Sticky DNA: self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia. Mol Cell 1999; 3: 465-475 (Pubitemid 29292603)
36. Bidichandani S, Ashizawa T, Patel PI. The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. Am J Hum Genet 1998; 62: 111-121 (Pubitemid 28093840)
37. Ohshima K, Montermini L, Wells RD, Pandolfo M. Inhibitory effects of expanded GAA-TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo. J Biol Chem 1998; 273: 14588-14595 (Pubitemid 28319183)
38. Bartolo C, Mendell JR, Prior TW. Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies. Am J Med Genet 1998; 79: 396-399 (Pubitemid 28445453)
39. Howeler CJ, Busch HF, Geraedts JP, Niermeijer MF, Staal A. Anticipation in myotonic dystrophy: fact or fiction? Brain 1989; 112: 779-797
40. Harper PS. Myotonic dystrophy. London: Saunders; 1989.
41. Sánchez-Díaz A, Morales-Peydró C, Madrigal-Bajo I. Retraso mental autosómico dominante. Rev Neurol 2006; 42 (Supl 1): S33-7.
42. Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 30 end of a transcript encoding a protein kinase family member. Cell 1992; 68: 799-808.
43. Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992; 255: 1256-1259
44. Hunter A, Tsilfidis C, Mettler G, Jacob P, Mahadevan M, Surh L, et al. The correlation of age of onset with CTG trinucleotide repeats amplification. J Med Genet 1992; 29: 774-779
45. Kinoshita M, Takahashi R, Hasegawa T, Komori T, Nagasawa R, Hirose K, et al. (CTG)n expansions in various tissues from a myotonic dystrophy patient. Muscle Nerve 1996; 19: 240-242 (Pubitemid 26038089)
46. Tsilfidis C, MacKenzie AE, Mettler G, Barcel J, Korneluk RG. Correlation between CTG trinucleotide repeat length and frequency of severe. Nat Genet 1992; 1: 192-195
47. Timchenko LT, Caskey CT. Triplet repeats disorders: discussion of molecular mechanisms. Cell Mol Life Sci 1999; 55: 1432-1447
48. Krahe R, Ashizawa T, Abbruzzese C, Roeder E, Carango P, Giacanelli M, et al. Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing. Genomics 1995; 28: 1-14.
49. Epstein FH. Molecular basis of the neurodegenerative disorders. N Engl J Med 1999; 340: 1970-1980
50. Hayden MR, Fremer B. Huntington disease. In Scriver CR, Sly WS, eds. The metabolic & molecular bases of inherited disease. 8 ed. New York: McGraw-Hill; 2001. p. 5677-5701
51. Sugars KL, Rubinsztein DC. Transcriptional abnormalities in Huntington disease. Trends Genet 2003; 19: 233-238
52. Young AB. Huntingtin in health and disease. J Clin Invest 2003; 111: 299-302.
53. García-Ramos R, Del Val-Fernández J, Catalán-Alonso M, Barcia-Albacar J, Matías-Guiu J. Modelos experimentales de la enfermedad de Huntington. Rev Neurol 2007; 45: 437-441
54. Harjes P, Wanker EE. The hunt for huntingtin function: interaction partners tell many different stories. Trends Biochem Sci 2003; 28: 425-433 (Pubitemid 36976745)
55. Gauthier LR, Charrin BC, Borrell-Pages M, Dompierre JP, Rangone H. Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules. Cell 2004; 118: 127-138 (Pubitemid 38902819)
56. Walker FO. Huntington's disease. Lancet 2007; 369: 218-228
57. Ohara K. Anticipation, imprinting, trinucleotide repeat expansions and psychoses. Prog Neuropsychopharmacol Biol Psychiatry 2001; 25: 167-192 (Pubitemid 32173791)
58. Sobue G, Hashizume Y, Mukai E, Hirayama M, Mitsuma T, Takahashi A. X-linked recessive bulbospinal neuronopathy: a clinicopathological study. Brain 1989; 112: 209-232 (Pubitemid 19056483)
59. Bates G, Leanshrach H. Trinucleotide repeat expansions and human genetic diseases. Bio Essay 1994; 16: 277-284 (Pubitemid 2073511)
60. Bailey CK, Andriola IF, Kampinga HH, Merry DE. Molecular chaperones enhance the degradation of expanded polyglutamine repeat androgen receptor in a cellular model of spinal and bulbar muscular atrophy. Hum Mol Genet 2002; 11: 515-523
61. Zhou ZX, Wong CI, Sar M, Wilson EM. The androgen receptor: an overview. Recent Prog Horm Res 2000; 49: 249-274
62. Chung MY, Ranum LPW, Duvick L, Servadio A, Zoghbi HY, Orr HT. Analysis of the CAG repeat expansion in spinocerebellar ataxia type I: evidence for a possible mechanism predisposing to instability. Nat Genet 1993; 5: 254-258
63. Durr A, Stevanin G, Cancel G, Duyckaerts C, Abbas N, Didierjean O, et al. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular and neuropathological features. Ann Neurol 1996; 39: 490-499 (Pubitemid 26118004)