Molecular background of EPM1 - Unverricht-Lundborg disease

Epilepsia

Volumn 49, Issue 4, 2008, Pages 557-563

  Joensuu, Tarja ^a   Lehesjoki, Anna Elina ^a   Kopra, Outi ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

Author keywords

Cystatin B; EPM1; Neurodegeneration; Progressive myoclonus epilepsy

Indexed keywords

CYSTATIN B; CYSTEINE PROTEINASE INHIBITOR;

CELLULAR DISTRIBUTION; CTSB GENE; DISEASE ACTIVITY; GENE; GENE INTERACTION; GENE LOCUS; GENE MUTATION; HUMAN; MISSENSE MUTATION; MOLECULAR BIOLOGY; MOLECULAR GENETICS; MYOCLONUS EPILEPSY; NONHUMAN; PRIORITY JOURNAL; PROTEIN INTERACTION; PROTEIN LOCALIZATION; REVIEW;

ANIMALS; CYSTATINS; DISEASE MODELS, ANIMAL; HUMANS; MICE; MICE, INBRED C57BL; MICE, MUTANT STRAINS; MUTATION, MISSENSE; PROMOTER REGIONS (GENETICS); UNVERRICHT-LUNDBORG SYNDROME;

EID: 43349093939     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2007.01422.x     Document Type: Review

References (57)

1. Abrahamson M, Barrett AJ, Salvesen G, Grubb A 1986) Isolation of six cysteine proteinase inhibitors from human urine. Their physicochemical and enzyme kinetic properties and concentrations in biological fluids. J Biol Chem 261 : 11282 11289.
2. Alakurtti K, Weber E, Rinne R, Theil G, de Haan GJ, Lindhout D, Salmikangas P, Saukko P, Lahtinen U, Lehesjoki AE 2005) Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations. Eur J Hum Genet 13 : 208 215.
3. Alakurtti K, Virtaneva K, Joensuu T, Palvimo JJ, Lehesjoki AE 2000) Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1. Gene 242 : 65 73.
4. Auerswald EA, Nagler DK, Assfalg-Machleidt I, Stubbs MT, Machleidt W, Fritz H 1995) Hairpin loop mutations of chicken cystatin have different effects on the inhibition of cathepsin B, cathepsin L and papain. FEBS Lett 361 : 179 184.
5. Barrett AJ 1986) The cystatins: a diverse superfamily of cysteine peptidase inhibitors. Biomed Biochim Acta 45 : 1363 1374.
6. Barrett AJ, Fritz H, Grubb A, Isemura S, Järvinen M, Katunuma N, Machleidt W, Muller-Esterl W, Sasaki M, Turk V 1986) Nomenclature and classification of the proteins homologous with the cysteine-proteinase inhibitor chicken cystatin. Biochem J 236 : 312.
7. Berkovic SF, Andermann F, Carpenter S, Wolfe LS 1986) Progressive myoclonus epilepsies: specific causes and diagnosis. N Engl J Med 315 : 296 305.
8. Berkovic SF, Mazarib A, Walid S, Neufeld MY, Manelis J, Nevo Y, Korczyn AD, Yin J, Xiong L, Pandolfo M, Mulley JC, Wallace RH 2005) A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping. Brain 128 : 652 658.
9. Bespalova IN, Adkins S, Pranzatelli M, Burmeister M. (1997a) Novel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patient. Am J Med Genet 74 : 467 471.
10. Bespalova IN, Pranzatelli M, Burmeister M. (1997b) G to C transversion at a splice acceptor site causes exon skipping in the cystatin B gene. Mutat Res 382 : 67 74.
11. Bode W, Engh R, Musil D, Thiele U, Huber R, Karshikov A, Brzin J, Kos J, Turk V 1988) The 2.0 A X-ray crystal structure of chicken egg white cystatin and its possible mode of interaction with cysteine proteinases. Embo J 7 : 2593 2599.
12. Brännvall K, Hjelm H, Korhonen L, Lahtinen U, Lehesjoki AE, Lindholm D 2003) Cystatin-B is expressed by neural stem cells and by differentiated neurons and astrocytes. Biochem Biophys Res Commun 308 : 369 374.
13. Bromme D, Rinne R, Kirschke H 1991) Tight-binding inhibition of cathepsin S by cystatins. Biomed Biochim Acta 50 : 631 635.
14. Calkins CC, Sameni M, Koblinski J, Sloane BF, Moin K 1998) Differential localization of cysteine protease inhibitors and a target cysteine protease, cathepsin B, by immuno-confocal microscopy. J Histochem Cytochem 46 : 745 751.
15. D'Amato E, Kokaia Z, Nanobashvili A, Reeben M, Lehesjoki AE, Saarma M, Lindvall O 2000) Seizures induce widespread upregulation of cystatin B, the gene mutated in progressive myoclonus epilepsy, in rat forebrain neurons. Eur J Neurosci 12 : 1687 1695.
16. de Haan GJ, Halley DJ, Doelman JC, Geesink HH, Augustijn PB, Jager-Jongkind AD, Majoie M, Bader AJ, Leliefeld-Ten Doeschate LA, Deelen WH, Bertram E, Lehesjoki AE, Lindhout D 2004) Unverricht-Lundborg disease: underdiagnosed in the Netherlands. Epilepsia 45 : 1061 1063.
17. Di Giaimo R, Riccio M, Santi S, Galeotti C, Ambrosetti DC, Melli M 2002) New insights into the molecular basis of progressive myoclonus epilepsy: a multiprotein complex with cystatin B. Hum Mol Genet 11 : 2941 2950.
18. Franceschetti S, Sancini G, Buzzi A, Zucchini S, Paradiso B, Magnaghi G, Frassoni C, Chikhladze M, Avanzini G, Simonato M 2007) A pathogenetic hypothesis of Unverricht-Lundborg disease onset and progression. Neurobiol Dis 25 : 675 685.
19. Green GD, Kembhavi AA, Davies ME, Barrett AJ 1984) Cystatin-like cysteine proteinase inhibitors from human liver. Biochem J 218 : 939 946.
20. Houseweart MK, Pennacchio LA, Vilaythong A, Peters C, Noebels JL, Myers RM 2003) Cathepsin B but not cathepsins L or S contributes to the pathogenesis of Unverricht-Lundborg progressive myoclonus epilepsy (EPM1). J Neurobiol 56 : 315 327.
21. Järvinen M, Rinne A 1982) Human spleen cysteine proteinase inhibitor. Purification, fractionation into isoelectric variants and some properties of the variants. Biochim Biophys Acta 708 : 210 217.
22. Jerala R, Trstenjak M, Lenarcic B, Turk V 1988) Cloning a synthetic gene for human stefin B and its expression in E. coli. FEBS Lett 239 : 41 44.
23. Jerala R, Trstenjak-Prebanda M, Kroon-Zitko L, Lenarcic B, Turk V 1990) Mutations in the QVVAG region of the cysteine proteinase inhibitor stefin B. Biol Chem Hoppe Seyler 371 (Suppl 157 160.
24. Joensuu T, Kuronen M, Alakurtti K, Tegelberg S, Hakala P, Aalto A, Huopaniemi L, Aula N, Michellucci R, Eriksson K, Lehesjoki AE 2007) Cystatin B: mutation detection, alternative splicing and expression in progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1) patients. Eur J Hum Genet 15 : 185 193.
25. Kagitani-Shimono K, Imai K, Okamoto N, Ono J, Okada S 2002) Unverricht-Lundborg disease with cystatin B gene abnormalities. Pediatr Neurol 26 : 55 60.
26. Krizaj I, Turk B, Turk V 1992) The complete primary structure of bovine stefin B. FEBS Lett 298 : 237 239.
27. Lafreniere RG, Rochefort DL, Chretien N, Rommens JM, Cochius JI, Kälviäinen R, Nousiainen U, Patry G, Farrell K, Soderfeldt B, Federico A, Hale BR, Cossio OH, Sorensen T, Pouliot MA, Kmiec T, Uldall P, Janszky J, Pranzatelli MR, Andermann F, Andermann E, Rouleau GA 1997) Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. Nat Genet 15 : 298 302.
28. Laitala-Leinonen T, Rinne R, Saukko P, Väänänen HK, Rinne A 2006) Cystatin B as an intracellular modulator of bone resorption. Matrix Biol 25 : 149 157.
29. Lalioti MD, Mirotsou M, Buresi C, Peitsch MC, Rossier C, Ouazzani R, Baldy-Moulinier M, Bottani A, Malafosse A, Antonarakis SE. (1997a) Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). Am J Hum Genet 60 : 342 351.
30. Lalioti MD, Scott HS, Buresi C, Rossier C, Bottani A, Morris MA, Malafosse A, Antonarakis SE. (1997b) Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature 386 : 847 851.
31. Lalioti MD, Scott HS, Genton P, Grid D, Ouazzani R, M'Rabet A, Ibrahim S, Gouider R, Dravet C, Chkili T, Bottani A, Buresi C, Malafosse A, Antonarakis SE 1998) A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset. Am J Hum Genet 62 : 842 847.
32. Lalioti MD, Scott HS, Antonarakis SE 1999) Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1. Hum Mol Genet 8 : 1791 1798.
33. Lehesjoki AE, Koskiniemi M, Sistonen P, Miao J, Hästbacka J, Norio R, de la Chapelle A 1991) Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22. Proc Natl Acad Sci USA 88 : 3696 3699.
34. Lehesjoki AE, Koskiniemi M, Norio R, Tirrito S, Sistonen P, Lander E, de la Chapelle A 1993) Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. Hum Mol Genet 2 : 1229 1234.
35. Lenarcic B, Krizaj I, Zunec P, Turk V 1996) Differences in specificity for the interactions of stefins A, B and D with cysteine proteinases. FEBS Lett 395 : 113 118.
36. Machleidt W, Thiele U, Assfalg-Machleidt I, Forger D, Auerswald EA 1991) Molecular mechanism of inhibition of cysteine proteinases by their protein inhibitors: kinetic studies with natural and recombinant variants of cystatins and stefins. Biomed Biochim Acta 50 : 613 620.
37. Marseille Consensus Group 1990) Classification of progressive myoclonus epilepsies and related disorders Ann Neurol 28 : 113 116.
38. Pataskar SS, Dash D, Brahmachari SK 2001) Progressive myoclonus epilepsy [EPM1] repeat d(CCCCGCCCCGCG)n forms folded hairpin structures at physiological pH. J Biomol Struct Dyn 19 : 293 305.
39. Pennacchio LA, Myers RM 1996) Isolation and characterization of the mouse cystatin B gene. Genome Res 6 : 1103 1109.
40. Pennacchio LA, Lehesjoki AE, Stone NE, Willour VL, Virtaneva K, Miao J, D'Amato E, Ramirez L, Faham M, Koskiniemi M, Warrington JA, Norio R, de la Chapelle A, Cox DR, Myers RM 1996) Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science 271 : 1731 1734.
41. Pennacchio LA, Bouley DM, Higgins KM, Scott MP, Noebels JL, Myers RM 1998) Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice. Nat Genet 20 : 251 258.
42. Pol E, Björk I 1999) Importance of the second binding loop and the C-terminal end of cystatin B (stefin B) for inhibition of cysteine proteinases. Biochemistry 38 : 10519 10526.
43. Rawlings ND, Barrett AJ 1990) Evolution of proteins of the cystatin superfamily. J Mol Evol 30 : 60 71.
44. Riccio M, Di Giaimo R, Pianetti S, Palmieri PP, Melli M, Santi S 2001) Nuclear localization of cystatin B, the cathepsin inhibitor implicated in myoclonus epilepsy (EPM1). Exp Cell Res 262 : 84 94.
45. Rinne A, Järvinen M, Martikainen J, Alavaikko M, Räsänen O 1981) Über das Vorkommen des epidermalen SH-Protease-Inhibitors im lymphatischen Gewebe. Verb Anat Ges 75 : 573 574.
46. Rinne R, Saukko P, Järvinen M, Lehesjoki AE 2002) Reduced cystatin B activity correlates with enhanced cathepsin activity in progressive myoclonus epilepsy. Ann Med 34 : 380 385.
47. Ritonja A, Machleidt W, Barrett AJ 1985) Amino acid sequence of the intracellular cysteine proteinase inhibitor cystatin B from human liver. Biochem Biophys Res Commun 131 : 1187 1192.
48. Ritonja A, Coetzer TH, Pike RN, Dennison C 1996) The amino acid sequences, structure comparisons and inhibition kinetics of sheep cathepsin L and sheep stefin B. Comp Biochem Physiol B Biochem Mol Biol 114 : 193 198.
49. Saha T, Usdin K 2001) Tetraplex formation by the progressive myoclonus epilepsy type-1 repeat: implications for instability in the repeat expansion diseases. FEBS Lett 491 : 184 187.
50. Sato N, Ishidoh K, Uchiyama Y, Kominami E 1992) Structural organization of the gene encoding rat cystatin beta. Gene 114 : 257 260.
51. Shannon P, Pennacchio LA, Houseweart MK, Minassian BA, Myers RM 2002) Neuropathological changes in a mouse model of progressive myoclonus epilepsy: cystatin B deficiency and Unverricht-Lundborg disease. J Neuropathol Exp Neurol 61 : 1085 1091.
52. Stone NE, Fan JB, Willour V, Pennacchio LA, Warrington JA, Hu A, de la Chapelle A, Lehesjoki AE, Cox DR, Myers RM 1996) Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the progressive myoclonus epilepsy gene. Genome Res 6 : 218 225.
53. Stubbs MT, Laber B, Bode W, Huber R, Jerala R, Lenarcic B, Turk V 1990) The refined 2.4 A X-ray crystal structure of recombinant human stefin B in complex with the cysteine proteinase papain: a novel type of proteinase inhibitor interaction. EMBO J 9 : 1939 1947.
54. Turk V, Bode W 1991) The cystatins: protein inhibitors of cysteine proteinases. FEBS Lett 285 : 213 219.
55. Turk B, Turk D, Turk V 2000) Lysosomal cysteine proteases: more than scavengers. Biochim Biophys Acta 1477 : 98 111.
56. Virtaneva K, Miao J, Träskelin AL, Stone N, Warrington JA, Weissenbach J, Myers RM, Cox DR, Sistonen P, de la Chapelle A, Lehesjoki AE 1996) Progressive myoclonus epilepsy EPM1 locus maps to a 175-kb interval in distal 21q. Am J Hum Genet 58 : 1247 1253.
57. Virtaneva K, D'Amato E, Miao J, Koskiniemi M, Norio R, Avanzini G, Franceschetti S, Michelucci R, Tassinari CA, Omer S, Pennacchio LA, Myers RM, Dieguez-Lucena JL, Krahe R, de la Chapelle A, Lehesjoki AE 1997) Unstable mini satellite expansion causing recessively inherited myoclonus epilepsy, EPM1. Nat Genet 15 : 393 396.