散發性肌萎縮側索硬化遺傳學研究進展_《華西醫學》

作者：

方登富 ¹ ,  曾艷 ²

1 遂寧市中心醫院神經內科（四川遂寧，629000）;2 四川大學華西醫院神經生物檢測中心;

關鍵詞：

肌萎縮側索硬化散發性遺傳學

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【摘要】　肌萎縮側索硬化是一種成年起病、選擇性侵犯運動神經元的神經系統慢性進展性變性疾病。約90%的患者為散發性，病因及發病機制尚未完全清楚，目前研究認為是多因素包括遺傳因素和環境因素共同作用的結果。盡管目前未發現某一個單獨的基因可導致散發性肌萎縮側索硬化的發生，但近年隨著全基因組關聯研究方法的采用，發現了部分基因與之相關。現就近來散發性肌萎縮側索硬化的分子遺傳學研究進展作一綜述。

引用本文： 方登富,曾艷. 散發性肌萎縮側索硬化遺傳學研究進展. 華西醫學, 2011, 26(4): 629-631. doi: 復制

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2.	Rosen DR, Siddique T, Patterson D, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis[J]. Nature, 1993, 362(6415): 59-62.
3.	Beleza-Meireles A, Al-Chalabi A. Genetic studies of amyotrophic lateral sclerosis: controversies and perspectives[J]. Amyotroph Lateral Scler, 2009, 10(1): 1-14.
4.	Siddique T, Figlewicz DA, Pericak-Vance MA, et al. Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity[J]. N Engl J Med, 1991, 324(20): 1381-1384.
5.	Jones CT, Brock DJ, Chancellor AM, et al. Cu/Zn superoxide dismutase (SOD1) mutations and sporadic amyotrophic lateral sclerosis[J]. Lancet, 1993, 342(8878): 1050-1051.
6.	Gruzman A, Wood WL, Alpert E, et al. Common molecular signature in SOD1 for both sporadic and familial amyotrophic lateral sclerosis[J]. Proc Natl Acad Sci USA, 2007, 104(30): 12524-12529.
7.	Orrell RW, Figlewicz DA. Clinical implications of the genetics of ALS and other motor neuron diseases[J]. Neurology, 2001, 57(1): 9-17.
8.	Gros-Louis F, Gaspar C, Rouleau GA. Genetics of familial and sporadic amyotrophic lateral sclerosis[J]. Biochim Biophys Acta, 2006, 1762(11-12): 956-972.
9.	Gellera C, Castellotti B, Riggio MC, et al. Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations[J]. Neuromuscul Disord, 2001, 11(4): 404-410.
10.	Orrell RW, Habgood J, Rudge P, et al. Difficulties in distinguishing sporadic from familial amyotrophic lateral sclerosis[J]. Ann Neurol, 1996, 39(6): 810-812.
11.	Cleveland DW, Rothstein JD. From Charcot to Lou Gehrig: deciphering selective motor neuron death in ALS[J]. Nat Rev Neurosci, 2001, 2(11): 806-819.
12.	Arai T, Hasegawa M, Akiyama H, et al. TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis[J]. Biochem Biophys Res Commun, 2006, 351(3): 602-611.
13.	Neumann M, Sampathu DM, Kwong LK, et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis[J]. Science, 2006, 314(5796): 130-133.
14.	Igaz LM, Kwong LK, Chen-Plotkin A, et al. Expression of TDP-43 C-terminal Fragments in Vitro Recapitulates Pathological Features of TDP-43 Proteinopathies[J]. J Biol Chem, 2009, 284(13): 8516-8524.
15.	Mackenzie IR, Bigio EH, Ince PG, et al. Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations[J]. Ann Neurol, 2007, 61(5): 427-434.
16.	Maekawa S, Leigh PN, King A, et al. TDP-43 is consistently co-localized with ubiquitinated inclusions in sporadic and Guam amyotrophic lateral sclerosis but not in familial amyotrophic lateral sclerosis with and without SOD1 mutations[J]. Neuropathology, 2009, 29(6): 672-683.
17.	Corrado L, Ratti A, Gellera C, et al. High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis[J]. Hum Mutat, 2009, 30(4): 688-694.
18.	Daoud H, Valdmanis PN, Kabashi E, et al. Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis[J]. J Med Genet, 2009, 46(2): 112-114.
19.	Liscic RM, Grinberg LT, Zidar J, et al. ALS and FTLD: two faces of TDP-43 proteinopathy[J]. Eur J Neurol, 2008, 15(8): 772-780.
20.	Kabashi E, Valdmanis PN, Dion P, et al. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis[J]. Nat Genet, 2008, 40(5): 572-574.
21.	Sreedharan J, Blair IP, Tripathi VB, et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis[J]. Science, 2008, 319(5870): 1668-1672.
22.	van Deerlin VM, Leverenz JB, Bekris LM, et al. TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis[J]. Lancet Neurol, 2008, 7(5): 409-416.
23.	Lagier-Tourenne C, Cleveland DW. Rethinking ALS: the FUS about TDP-43[J]. Cell, 2009, 136(6): 1001-1004.
24.	Schymick JC, Scholz SW, Fung HC, et al. Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data[J]. Lancet Neurol, 2007, 6(4): 322-328.
25.	Dunckley T, Huentelman MJ, Craig DW, et al. Whole-genome analysis of sporadic amyotrophic lateral sclerosis[J]. N Engl J Med, 2007, 357(8): 775-788.
26.	van Es MA, Van Vught PW, Blauw HM, et al. ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study[J]. Lancet Neurol, 2007, 6(10): 869-877.
27.	Kasperaviciute D, Weale ME, Shianna KV, et al. Large-scale pathways-based association study in amyotrophic lateral sclerosis[J]. Brain, 2007, 130(Pt 9): 2292-2301.
28.	van Es MA, van vught PW, Blauw HM, et al. Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis[J]. Nat Genet, 2008, 40(1): 29-31.
29.	van Es MA, Van Vught PW, Veldink JH, et al. Analysis of FGGY as a risk factor for sporadic amyotrophic lateral sclerosis[J]. Amyotroph Lateral Scler, 2009,10(5-6):441-447.
30.	Burghes AH, Butchbach ME. Let all DNA vote: who are the amyotrophic lateral sclerosis candidates?[J]. Neurology, 2008, 70(9): 662-663.
31.	Dupré N, Valdmanis P. Genome-wide association studies in amyotrophic lateral sclerosis[J]. Eur J Hum Genet, 2009, 17(2): 137-138.
32.	Fernandez-Santiago R, Sharma M, Berg D, et al. No evidence of association of FLJ10986 and ITPR2 with ALS in a large German cohort[J]. Neurobiol Aging, 2011,32(3): 551.
33.	Schymick JC, Talbot K, Traynor BJ. Genetics of sporadic amyotrophic lateral sclerosis[J]. Hum Mol Genet, 2007, 16(Spec 2): 233-242.

1. 　Mitchell JD, Borasio GD. Amyotrophic lateral sclerosis[J]. Lancet, 2007, 369(9578): 2031-2041.
2. 　Rosen DR, Siddique T, Patterson D, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis[J]. Nature, 1993, 362(6415): 59-62.
3. 　Beleza-Meireles A, Al-Chalabi A. Genetic studies of amyotrophic lateral sclerosis: controversies and perspectives[J]. Amyotroph Lateral Scler, 2009, 10(1): 1-14.
4. 　Siddique T, Figlewicz DA, Pericak-Vance MA, et al. Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity[J]. N Engl J Med, 1991, 324(20): 1381-1384.
5. 　Jones CT, Brock DJ, Chancellor AM, et al. Cu/Zn superoxide dismutase (SOD1) mutations and sporadic amyotrophic lateral sclerosis[J]. Lancet, 1993, 342(8878): 1050-1051.
6. 　Gruzman A, Wood WL, Alpert E, et al. Common molecular signature in SOD1 for both sporadic and familial amyotrophic lateral sclerosis[J]. Proc Natl Acad Sci USA, 2007, 104(30): 12524-12529.
7. 　Orrell RW, Figlewicz DA. Clinical implications of the genetics of ALS and other motor neuron diseases[J]. Neurology, 2001, 57(1): 9-17.
8. 　Gros-Louis F, Gaspar C, Rouleau GA. Genetics of familial and sporadic amyotrophic lateral sclerosis[J]. Biochim Biophys Acta, 2006, 1762(11-12): 956-972.
9. 　Gellera C, Castellotti B, Riggio MC, et al. Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations[J]. Neuromuscul Disord, 2001, 11(4): 404-410.
10. 　Orrell RW, Habgood J, Rudge P, et al. Difficulties in distinguishing sporadic from familial amyotrophic lateral sclerosis[J]. Ann Neurol, 1996, 39(6): 810-812.
11. 　Cleveland DW, Rothstein JD. From Charcot to Lou Gehrig: deciphering selective motor neuron death in ALS[J]. Nat Rev Neurosci, 2001, 2(11): 806-819.
12. 　Arai T, Hasegawa M, Akiyama H, et al. TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis[J]. Biochem Biophys Res Commun, 2006, 351(3): 602-611.
13. 　Neumann M, Sampathu DM, Kwong LK, et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis[J]. Science, 2006, 314(5796): 130-133.
14. 　Igaz LM, Kwong LK, Chen-Plotkin A, et al. Expression of TDP-43 C-terminal Fragments in Vitro Recapitulates Pathological Features of TDP-43 Proteinopathies[J]. J Biol Chem, 2009, 284(13): 8516-8524.
15. 　Mackenzie IR, Bigio EH, Ince PG, et al. Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations[J]. Ann Neurol, 2007, 61(5): 427-434.
16. 　Maekawa S, Leigh PN, King A, et al. TDP-43 is consistently co-localized with ubiquitinated inclusions in sporadic and Guam amyotrophic lateral sclerosis but not in familial amyotrophic lateral sclerosis with and without SOD1 mutations[J]. Neuropathology, 2009, 29(6): 672-683.
17. 　Corrado L, Ratti A, Gellera C, et al. High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis[J]. Hum Mutat, 2009, 30(4): 688-694.
18. 　Daoud H, Valdmanis PN, Kabashi E, et al. Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis[J]. J Med Genet, 2009, 46(2): 112-114.
19. 　Liscic RM, Grinberg LT, Zidar J, et al. ALS and FTLD: two faces of TDP-43 proteinopathy[J]. Eur J Neurol, 2008, 15(8): 772-780.
20. 　Kabashi E, Valdmanis PN, Dion P, et al. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis[J]. Nat Genet, 2008, 40(5): 572-574.
21. 　Sreedharan J, Blair IP, Tripathi VB, et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis[J]. Science, 2008, 319(5870): 1668-1672.
22. 　van Deerlin VM, Leverenz JB, Bekris LM, et al. TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis[J]. Lancet Neurol, 2008, 7(5): 409-416.
23. 　Lagier-Tourenne C, Cleveland DW. Rethinking ALS: the FUS about TDP-43[J]. Cell, 2009, 136(6): 1001-1004.
24. 　Schymick JC, Scholz SW, Fung HC, et al. Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data[J]. Lancet Neurol, 2007, 6(4): 322-328.
25. 　Dunckley T, Huentelman MJ, Craig DW, et al. Whole-genome analysis of sporadic amyotrophic lateral sclerosis[J]. N Engl J Med, 2007, 357(8): 775-788.
26. 　van Es MA, Van Vught PW, Blauw HM, et al. ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study[J]. Lancet Neurol, 2007, 6(10): 869-877.
27. 　Kasperaviciute D, Weale ME, Shianna KV, et al. Large-scale pathways-based association study in amyotrophic lateral sclerosis[J]. Brain, 2007, 130(Pt 9): 2292-2301.
28. 　van Es MA, van vught PW, Blauw HM, et al. Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis[J]. Nat Genet, 2008, 40(1): 29-31.
29. 　van Es MA, Van Vught PW, Veldink JH, et al. Analysis of FGGY as a risk factor for sporadic amyotrophic lateral sclerosis[J]. Amyotroph Lateral Scler, 2009,10(5-6):441-447.
30. 　Burghes AH, Butchbach ME. Let all DNA vote: who are the amyotrophic lateral sclerosis candidates?[J]. Neurology, 2008, 70(9): 662-663.
31. 　Dupré N, Valdmanis P. Genome-wide association studies in amyotrophic lateral sclerosis[J]. Eur J Hum Genet, 2009, 17(2): 137-138.
32. 　Fernandez-Santiago R, Sharma M, Berg D, et al. No evidence of association of FLJ10986 and ITPR2 with ALS in a large German cohort[J]. Neurobiol Aging, 2011,32(3): 551.
33. 　Schymick JC, Talbot K, Traynor BJ. Genetics of sporadic amyotrophic lateral sclerosis[J]. Hum Mol Genet, 2007, 16(Spec 2): 233-242.

《華西醫學》

散發性肌萎縮側索硬化遺傳學研究進展

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《華西醫學》

散發性肌萎縮側索硬化遺傳學研究進展

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Content

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