GENETIC FACTORS ASSOCIATED WITH AMYOTROPHIC LATERAL SCLEROSIS
作者： Katarina Vrabec , Metka Ravnik-Glavač
DOI: 10.6016/SLOVMEDJOUR.V84I9.1275
关键词:
摘要: Amyotrophic lateral sclerosis (ALS) is a rare complex neurodegenerative disease characterized by degeneration of motor neurons in the cerebral cortex, brainstem and spinal cord. The mainly occurs adults, typically between 50. 60. years presents with symptoms like muscular weakness, atrophy later on paralysis which lead to death due respiratory failure within 2-5 from onset remains incurable. start muscles arms or legs (spinal onset) bulbary (bulbar onset). Most ALS cases are sporadic although about 5% familiar. Genetic factors contribute form as well familial form. Mutations have been found 116 genes among SOD1 , TARDBP FUS C9ORF72 represented highest frequencies. Besides those four we also describing 13 other involved process. Oligogenic model has proposed for that considers mutations two more one patient. We emphasize convergence hereditary form, clinically inseparable, diseases share genetic clinical characteristics. Because 2/3 only 11% explained research aimed at discovering new candidate using genome –wide association studies epigenetic causes disease. recently completed first representative analysis patients Slovenia methylation microRNAs currently progress.
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doaj.org参考文章(90)
Elisa Majounie, Alan E Renton, Kin Mok, Elise GP Dopper, Adrian Waite, Sara Rollinson, Adriano Chiò, Gabriella Restagno, Nayia Nicolaou, Javier Simon-Sanchez, John C Van Swieten, Yevgeniya Abramzon, Janel O Johnson, Michael Sendtner, Roger Pamphlett, Richard W Orrell, Simon Mead, Katie C Sidle, Henry Houlden, Jonathan D Rohrer, Karen E Morrison, Hardev Pall, Kevin Talbot, Olaf Ansorge, Dena G Hernandez, Sampath Arepalli, Mario Sabatelli, Gabriele Mora, Massimo Corbo, Fabio Giannini, Andrea Calvo, Elisabet Englund, Giuseppe Borghero, Gian Luca Floris, Anne M Remes, Hannu Laaksovirta, Leo McCluskey, John Q Trojanowski, Vivianna M Van Deerlin, Gerard D Schellenberg, Michael A Nalls, Vivian E Drory, Chin-Song Lu, Tu-Hsueh Yeh, Hiroyuki Ishiura, Yuji Takahashi, Shoji Tsuji, Isabelle Le Ber, Alexis Brice, Carsten Drepper, Nigel Williams, Janine Kirby, Pamela Shaw, John Hardy, Pentti J Tienari, Peter Heutink, Huw R Morris, Stuart Pickering-Brown, Bryan J Traynor, Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study Lancet Neurology. ,vol. 11, pp. 323- 330 ,(2012) , 10.1016/S1474-4422(12)70043-1
Tenshi Osawa, Yuji Mizuno, Yukio Fujita, Masamitsu Takatama, Yoichi Nakazato, Koichi Okamoto, Optineurin in neurodegenerative diseases Neuropathology. ,vol. 31, pp. 569- 574 ,(2011) , 10.1111/J.1440-1789.2011.01199.X
Faisal Fecto, Jianhua Yan, S Pavan Vemula, Erdong Liu, Yi Yang, Wenjie Chen, Jian Guo Zheng, Yong Shi, Nailah Siddique, Hasan Arrat, Sandra Donkervoort, Senda Ajroud-Driss, Robert L Sufit, Scott L Heller, Han-Xiang Deng, Teepu Siddique, SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. JAMA Neurology. ,vol. 68, pp. 1440- 1446 ,(2011) , 10.1001/ARCHNEUROL.2011.250
Alan E Renton, Elisa Majounie, Adrian Waite, Javier Simón-Sánchez, Sara Rollinson, J Raphael Gibbs, Jennifer C Schymick, Hannu Laaksovirta, John C Van Swieten, Liisa Myllykangas, Hannu Kalimo, Anders Paetau, Yevgeniya Abramzon, Anne M Remes, Alice Kaganovich, Sonja W Scholz, Jamie Duckworth, Jinhui Ding, Daniel W Harmer, Dena G Hernandez, Janel O Johnson, Kin Mok, Mina Ryten, Danyah Trabzuni, Rita J Guerreiro, Richard W Orrell, James Neal, Alex Murray, Justin Pearson, Iris E Jansen, David Sondervan, Harro Seelaar, Derek Blake, Kate Young, Nicola Halliwell, Janis Bennion Callister, Greg Toulson, Anna Richardson, Alex Gerhard, Julie Snowden, David Mann, David Neary, Michael A Nalls, Terhi Peuralinna, Lilja Jansson, Veli-Matti Isoviita, Anna-Lotta Kaivorinne, Maarit Hölttä-Vuori, Elina Ikonen, Raimo Sulkava, Michael Benatar, Joanne Wuu, Adriano Chiò, Gabriella Restagno, Giuseppe Borghero, Mario Sabatelli, David Heckerman, Ekaterina Rogaeva, Lorne Zinman, Jeffrey D Rothstein, Michael Sendtner, Carsten Drepper, Evan E Eichler, Can Alkan, Ziedulla Abdullaev, Svetlana D Pack, Amalia Dutra, Evgenia Pak, John Hardy, Andrew Singleton, Nigel M Williams, Peter Heutink, Stuart Pickering-Brown, Huw R Morris, Pentti J Tienari, Bryan J Traynor, A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD Neuron. ,vol. 72, pp. 257- 268 ,(2011) , 10.1016/J.NEURON.2011.09.010
Vincenzo Silani, Cinzia Tiloca, Alberto Doretti, Claudia Colombrita, Nicola Ticozzi, Antonia Ratti, Barbara Poletti, Luca Maderna, Claudia Morelli, Stefano Messina, Genetics of familial Amyotrophic lateral sclerosis. Archives Italiennes De Biologie. ,vol. 149, pp. 65- 82 ,(2011) , 10.4449/AIB.V149I1.1262
Tayebeh Rezaie, Anne Child, Roger Hitchings, Glen Brice, Lauri Miller, Miguel Coca-Prados, Elise Héon, Theodore Krupin, Robert Ritch, Donald Kreutzer, R Pitts Crick, Mansoor Sarfarazi, Adult-Onset Primary Open-Angle Glaucoma Caused by Mutations in Optineurin Science. ,vol. 295, pp. 1077- 1079 ,(2002) , 10.1126/SCIENCE.1066901
Mariely DeJesus-Hernandez, Ian R Mackenzie, Bradley F Boeve, Adam L Boxer, Matt Baker, Nicola J Rutherford, Alexandra M Nicholson, NiCole A Finch, Heather Flynn, Jennifer Adamson, Naomi Kouri, Aleksandra Wojtas, Pheth Sengdy, Ging-Yuek R Hsiung, Anna Karydas, William W Seeley, Keith A Josephs, Giovanni Coppola, Daniel H Geschwind, Zbigniew K Wszolek, Howard Feldman, David S Knopman, Ronald C Petersen, Bruce L Miller, Dennis W Dickson, Kevin B Boylan, Neill R Graff-Radford, Rosa Rademakers, None, Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS Neuron. ,vol. 72, pp. 245- 256 ,(2011) , 10.1016/J.NEURON.2011.09.011
Kohsuke Kanekura, Yuichi Hashimoto, Takako Niikura, Sadakazu Aiso, Masaaki Matsuoka, Ikuo Nishimoto, Alsin, the product of ALS2 gene, suppresses SOD1 mutant neurotoxicity through RhoGEF domain by interacting with SOD1 mutants. Journal of Biological Chemistry. ,vol. 279, pp. 19247- 19256 ,(2004) , 10.1074/JBC.M313236200
Clement Y. Chow, John E. Landers, Sarah K. Bergren, Peter C. Sapp, Adrienne E. Grant, Julie M. Jones, Lesley Everett, Guy M. Lenk, Diane M. McKenna-Yasek, Lois S. Weisman, Denise Figlewicz, Robert H. Brown, Miriam H. Meisler, Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS American Journal of Human Genetics. ,vol. 84, pp. 85- 88 ,(2009) , 10.1016/J.AJHG.2008.12.010
M.J. Strong, A.J. Hudson, W.G. Alvord, Familial amyotrophic lateral sclerosis, 1850-1989: a statistical analysis of the world literature. Canadian Journal of Neurological Sciences. ,vol. 18, pp. 45- 58 ,(1991) , 10.1017/S0317167100031280