Friedreich ataxia from the eye of a molecular biologist

Neurologist

Volumn 20, Issue 3, 2015, Pages 51-55

  Muthuswamy, Srinivasan ^a   Agarwal, Sarita ^a  

^a SANJAY GANDHI POSTGRADUATE INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Frataxin; Friedreich ataxia; FXN gene; GAA repeat expansion

Indexed keywords

FRATAXIN; IRON; IRON BINDING PROTEIN; MITOCHONDRIAL PROTEIN;

ALLELE; ARTICLE; FRIEDREICH ATAXIA; GENE SILENCING; GERMANY; HEART; HEREDITARY ATAXIA; INHERITANCE; IRON OVERLOAD; MOLECULAR BIOLOGY; NERVE CELL; OXIDATIVE STRESS; PANCREAS; PATHOGENESIS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; GENETIC EPIGENESIS; GENETICS; HUMAN; METABOLISM;

EPIGENESIS, GENETIC; FRIEDREICH ATAXIA; HUMANS; IRON; IRON-BINDING PROTEINS; MITOCHONDRIAL PROTEINS; OXIDATIVE STRESS;

EID: 84941913098     PISSN: 10747931     EISSN: None     Source Type: Journal    
DOI: 10.1097/NRL.0000000000000054     Document Type: Article

References (58)

1. 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.
2. Alper G, Narayanan V. Friedreich's ataxia. Pediatr Neurol. 2003;28:335-341.
3. Pandolfo M. Molecular pathogenesis of Friedreich ataxia. Arch Neurol. 1999;56:1201-1208.
4. Puccio H, Koenig M. Recent advances in the molecular pathogenesis of Friedreich ataxia. Hum Mol Genet. 2000;9:887-892.
5. Chamberlain S, Shaw J, Rowland A, et al. Mapping of mutation causing Friedreich's ataxia to human chromosome 9. Nature. 1988;334:248-250.
6. Fujita R, Agid Y, Trouillas P, et al. Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker. Genomics. 1989;4:110-111.
7. Chamberlain S, Farrall M, Shaw J, et al. Genetic recombination events which position the Friedreich ataxia locus proximal to the D9S15/D9S5 linkage group on chromosome 9q. Am J Hum Genet. 1993;52:99-109.
8. Fujita R, Hanauer A, Sirugo G, et al. Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich ataxia. Proc Natl Acad Sci USA. 1990;87:1796-1800.
9. Rodius F, Duclos F, Wrogemann K, et al. Recombinations in individuals homozygous by descent localize the Friedreich ataxia locus in a cloned 450-kb interval. Am J Hum Genet. 1994;54:1050-1059.
10. Montermini L, Rodius F, Pianese L, et al. The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13. Am J Hum Genet. 1995;57:1061-1067.
11. Campuzano V, Montermini L, Molto MD, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996;271:1423-1427.
12. Jiralerspong S, Liu Y, Montermini L, et al. Frataxin shows developmentally regulated tissue-specific expression in the mouse embryo. Neurobiol Dis. 1997;4:103-113.
13. Palka P, Lange A, Burstow D. Doppler myocardial velocity gradient as a new diagnostic index for the assessment of myocardial disease. Pol Merkur Lekarski. 2001;11:72-78.
14. Montermini L, Andermann E, Labuda M, et al. The Friedreich ataxia GAA triplet repeat: premutation and normal alleles. Hum Mol Genet. 1997;6:1261-1266.
15. Cossee M, Schmitt M, Campuzano V, et al. Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations. Proc Natl Acad Sci USA. 1997;94:7452-7457.
16. Egger G, Liang G, Aparicio A, et al. Epigenetics in human disease and prospects for epigenetic therapy. Nature. 2004;429:457-463.
17. Greene E, Mahishi L, Entezam A, et al. Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia. Nucleic Acids Res. 2007;35:3383-3390.
18. Herman D, Jenssen K, Burnett R, et al. Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia. Nat Chem Biol. 2006;2:551-558.
19. Al-Mahdawi S, Pinto RM, Ismail O, et al. The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues. Hum Mol Genet. 2008;17:735-746.
20. Mirkin SM, Frank-Kamenetskii MD. H-DNA and related structures. Annu Rev Biophys Biomol Struct. 1994;23:541-576.
21. Collier DA, Wells RD. Effect of length, supercoiling, and pH on intramolecular triplex formation. Multiple conformers at pur-pyr mirror repeats. J Biol Chem. 1990;265:10652-10658.
22. Ohshima K, Kang S, Larson JE, et al. Cloning, characterization, and properties of seven triplet repeat DNA sequences. J Biol Chem. 1996;271:16773-16783.
23. Aoki T, Koch KS, Leffert HL. Attenuation of gene expression by a trinucleotide repeat-rich tract from the terminal exon of the rat hepatic polymeric immunoglobulin receptor gene. J Mol Biol. 1997;267:229-236.
24. Reaban ME, Griffin JA. Induction of RNA-stabilized DNA conformers by transcription of an immunoglobulin switch region. Nature. 1990;348:342-344.
25. Reaban ME, Lebowitz J, Griffin JA. Transcription induces the formation of a stable RNA. DNA hybrid in the immunoglobulin alpha switch region. J Biol Chem. 1994;269:21850-21857.
26. Grabczyk E, Fishman MC. A long purine-pyrimidine homopolymer acts as a transcriptional diode. J Biol Chem. 1995;270:1791-1797.
27. Sarkar PS, Brahmachari SK. Intramolecular triplex potential sequence within a gene down regulates its expression in vivo. Nucleic Acids Res. 1992;20:5713-5718.
28. Amirhaeri S, Wohlrab F, Wells RD. Differential effects of simple repeating DNA sequences on gene expression from the SV40 early promoter. J Biol Chem. 1995;270:3313-3319.
29. Ohshima K, Montermini L, Wells RD, et al. 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.
30. Sakamoto N, Chastain PD, Parniewski P, 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.
31. ∗TTC repeats inhibit the formation of triplex and sticky DNA structures, alleviate transcription inhibition, and reduce genetic instabilities. J Biol Chem. 2001;276:27178-27187.
32. Cavadini P, Adamec J, Taroni F, et al. Two-step processing of human frataxin by mitochondrial processing peptidase. Precursor and intermediate forms are cleaved at different rates. J Biol Chem. 2000;275:41469-41475.
33. Pianese L, Tammaro A, Turano M, et al. Identification of a novel transcript of X25, the human gene involved in Friedreich ataxia. Neurosci Lett. 2002;320:137-140.
34. Dhe-Paganon S, Shigeta R, Chi YI, et al. Crystal structure of human frataxin. J Biol Chem. 2000;275:30753-30756.
35. Huang ML, Becker EM, Whitnall M, et al. Elucidation of the mechanism of mitochondrial iron loading in Friedreich's ataxia by analysis of a mouse mutant. Proc Natl Acad Sci USA. 2009;106:16381-16386.
36. Karthikeyan G, Lewis LK, Resnick MA. The mitochondrial protein frataxin prevents nuclear damage. Hum Mol Genet. 2002;11:1351-1362.
37. Llorens JV, Navarro JA, Martinez-Sebastian MJ, et al. Causative role of oxidative stress in a Drosophila model of Friedreich ataxia. FASEB J. 2007;21:333-344.
38. Stehling O, Elsasser HP, Bruckel B, et al. Iron-sulfur protein maturation in human cells: evidence for a function of frataxin. Hum Mol Genet. 2004;13:3007-3015.
39. Waldvogel D, van GP, Hallett M. Increased iron in the dentate nucleus of patients with Friedrich's ataxia. Ann Neurol. 1999;46:123-125.
40. Santos R, Lefevre S, Sliwa D, et al. Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities. Antioxid Redox Signal. 2010;13:651-690.
41. Linseman KL, Larson P, Braughler JM, et al. Iron-initiated tissue oxidation: lipid peroxidation, vitamin E destruction and protein thiol oxidation. Inhibition by a novel antioxidant, U-78517F. Biochem Pharmacol. 1993;45:1477-1482.
42. Pandolfo M. Friedreich ataxia: the clinical picture. J Neurol. 2009;256(suppl 1):3-8.
43. Sarsero JP, Li L, Wardan H, et al. Upregulation of expression from the FRDA genomic locus for the therapy of Friedreich ataxia. J Gene Med. 2003;5:72-81.
44. Hughes JT, Brownell B, Hewer RL. The peripheral sensory pathway in Friedreich's ataxia. An examination by light and electron microscopy of the posterior nerve roots, posterior root ganglia, and peripheral sensory nerves in cases of Friedreich's ataxia. Brain. 1968;91:803-818.
45. Rizzuto N, Monaco S, Moretto G, et al. Friedreich's ataxia. A light- and electron microscopic study of peripheral nerve biopsies. Acta Neuropathol Suppl. 1981;7:344-347.
46. Zouari M, Feki M, Ben HC, et al. Electrophysiology and nerve biopsy: comparative study in Friedreich's ataxia and Friedreich's ataxia phenotype with vitamin E deficiency. Neuromuscul Disord. 1998;8:416-425.
47. Lu C, Schoenfeld R, Shan Y, et al. Frataxin deficiency induces Schwann cell inflammation and death. Biochim Biophys Acta. 2009;1792:1052-1061.
48. Koeppen AH, Morral JA, Davis AN, et al. The dorsal root ganglion in Friedreich's ataxia. Acta Neuropathol. 2009;118:763-776.
49. Lamarche J, Luneau C, Lemieux B. Ultrastructural observations on spinal ganglion biopsy in Friedreich's ataxia: a preliminary report. Can J Neurol Sci. 1982;9:137-139.
50. Said G, Marion MH, Selva J, et al. Hypotrophic and dying-back nerve fibers in Friedreich's ataxia. Neurology. 1986;36:1292-1299.
51. Ribai P, Pousset F, Tanguy ML, et al. Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up. Arch Neurol. 2007;64:558-564.
52. Hewer RL. Study of fatal cases of Friedreich's ataxia. Br Med J. 1968;3:649-652.
53. Fayssoil A, Nardi O, Orlikowski D, et al. Hypertrophic cardiomyopathy in Friedreich's ataxia. Int J Cardiol. 2008;127:e122-e123.
54. Ciotti P, Di ME, Bellone E, et al. Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia. J Mol Diagn. 2004;6:285-289.
55. Filla A, De MG, Cavalcanti F, et al. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet. 1996;59:554-560.
56. Xuncla M, Rodriguez-Revenga L, Madrigal I, et al. Protocol proposal for Friedreich ataxia molecular diagnosis using fluorescent and triplet repeat primed polymerase chain reaction. Transl Res. 2010;156:309-314.
57. Durr A, Cossee M, Agid Y, et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med. 1996;335:1169-1175.
58. Mariotti C, Fancellu R, Caldarazzo S, et al. Erythropoietin in Friedreich ataxia: no effect on frataxin in a randomized controlled trial. Mov Disord. 2012;27:446-449.