Localization of sequence variations in PGC-1 influence their modifying effect in Huntington disease

Molecular Neurodegeneration

Volumn 6, Issue 1, 2011, Pages

  Che, Hong Van B ^a   Metzger, Silke ^a   Portal, Esteban ^a   Deyle, Carolin ^a   Riess, Olaf ^a   Nguyen, Huu Phuc ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA COACTIVATOR 1ALPHA;

ADOLESCENT; ADULT; AGED; ALLELE; AMINO ACID SEQUENCE; ARTICLE; CHILD; EXON; GENE LOCATION; GENETIC TRANSCRIPTION; GENOTYPE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HUNTINGTON CHOREA; ITALY; MAJOR CLINICAL STUDY; ONSET AGE; PROMOTER REGION; PROTEIN LOCALIZATION; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 78650865385     PISSN: None     EISSN: 17501326     Source Type: Journal    
DOI: 10.1186/1750-1326-6-1     Document Type: Article

References (38)

1. A novel gene containing a trinucleotide repeat that is unstable on Huntington's disease chromosomes. Group THsDCR, Cell 1993 26 971 983
2. The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size. RR Brinkman MM Mezei J Theilmann E Almqvist MR Hayden, American journal of human genetics 1997 60 5 1202 1210 9150168
3. Confidence intervals for predicted age of onset, given the size of (CAG)n repeat, in Huntington's disease. G Lucotte JC Turpin O Riess JT Epplen I Siedlaczk F Loirat S Hazout, Human genetics 1995 95 2 231 232 10.1007/BF00209410 7860073
4. Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. NS Wexler J Lorimer J Porter F Gomez C Moskowitz E Shackell K Marder G Penchaszadeh SA Roberts J Gayan,, et al. Proceedings of the National Academy of Sciences of the United States of America 2004 101 10 3498 3503 10.1073/pnas.0308679101 14993615
5. Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease. S Metzger J Rong HP Nguyen A Cape J Tomiuk AS Soehn P Propping Y Freudenberg-Hua J Freudenberg L Tong,, et al. Human molecular genetics 2008 17 8 1137 1146 10.1093/hmg/ddn003 18192679
6. A genetic variation in the ADORA2A gene modifies age at onset in Huntington's disease. CM Dhaenens S Burnouf C Simonin E Van Brussel A Duhamel L Defebvre C Duru I Vuillaume C Cazeneuve P Charles,, et al. Neurobiology of disease 2009 35 3 474 476 10.1016/j.nbd.2009.06.009 19591938
7. Age at onset in Huntington's disease: replication study on the associations of ADORA2A, HAP1 and OGG1. E Taherzadeh-Fard C Saft S Wieczorek JT Epplen L Arning, Neurogenetics 2010 11 4 435 439 10.1007/s10048-010-0248-3 20512606
8. The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease. S Metzger P Bauer J Tomiuk F Laccone S Didonato C Gellera P Soliveri HW Lange H Weirich-Schwaiger GK Wenning,, et al. Neurogenetics 2006 7 1 27 30 10.1007/s10048-005-0023-z 16369839
9. Mutation analysis and association studies of the ubiquitin carboxy-terminal hydrolase L1 gene in Huntington's disease. P Naze I Vuillaume A Destee F Pasquier B Sablonniere, Neuroscience letters 2002 328 1 1 4 10.1016/S0304-3940(02)00231-8 12123845
10. Age at onset in Huntington's disease is modified by the autophagy pathway: implication of the V471A polymorphism in Atg7. S Metzger M Saukko H Van Che L Tong Y Puder O Riess HP Nguyen, Human genetics 2010 128 4 453 459 10.1007/s00439-010-0873-9 20697744
11. PGC-1alpha as modifier of onset age in Huntington disease. E Taherzadeh-Fard C Saft J Andrich S Wieczorek L Arning, Molecular neurodegeneration 2009 4 10 10.1186/1750-1326-4-10 19200361
12. The gene coding for PGC-1alpha modifies age at onset in Huntington's Disease. P Weydt SM Soyal C Gellera S Didonato C Weidinger H Oberkofler GB Landwehrmeyer W Patsch, Molecular neurodegeneration 2009 4 3 10.1186/1750-1326-4-3 19133136
13. A cold-inducible coactivator of nuclear receptors linked to adaptive thermogenesis. P Puigserver Z Wu CW Park R Graves M Wright BM Spiegelman, Cell 1998 92 6 829 839 10.1016/S0092-8674(00)81410-5 9529258
14. Peroxisome proliferator-activated receptor-gamma coactivator 1 alpha (PGC-1 alpha): transcriptional coactivator and metabolic regulator. P Puigserver BM Spiegelman, Endocrine reviews 2003 24 1 78 90 10.1210/er.2002-0012 12588810
15. Suppression of reactive oxygen species and neurodegeneration by the PGC-1 transcriptional coactivators. J St-Pierre S Drori M Uldry JM Silvaggi J Rhee S Jager C Handschin K Zheng J Lin W Yang,, et al. Cell 2006 127 2 397 408 10.1016/j.cell.2006.09.024 17055439
16. Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases. MT Lin MF Beal, Nature 2006 443 7113 787 795 10.1038/nature05292 17051205
17. Nature and cause of mitochondrial dysfunction in Huntington's disease: focusing on huntingtin and the striatum. JM Oliveira, Journal of neurochemistry 2010 114 1 1 12 20403078
18. PGC-1alpha deficiency causes multi-system energy metabolic derangements: muscle dysfunction, abnormal weight control and hepatic steatosis. TC Leone JJ Lehman BN Finck PJ Schaeffer AR Wende S Boudina M Courtois DF Wozniak N Sambandam C Bernal-Mizrachi,, et al. PLoS biology 2005 3 4 101 10.1371/journal.pbio.0030101 15760270
19. Defects in adaptive energy metabolism with CNS-linked hyperactivity in PGC-1alpha null mice. J Lin PH Wu PT Tarr KS Lindenberg J St-Pierre CY Zhang VK Mootha S Jager CR Vianna RM Reznick,, et al. Cell 2004 119 1 121 135 10.1016/j.cell.2004.09.013 15454086
20. Impaired PGC-1alpha function in muscle in Huntington's disease. RK Chaturvedi P Adhihetty S Shukla T Hennessy N Calingasan L Yang A Starkov M Kiaei M Cannella J Sassone,, et al. Human molecular genetics 2009 18 16 3048 3065 10.1093/hmg/ddp243 19460884
21. Transcriptional repression of PGC-1alpha by mutant huntingtin leads to mitochondrial dysfunction and neurodegeneration. L Cui H Jeong F Borovecki CN Parkhurst N Tanese D Krainc, Cell 2006 127 1 59 69 10.1016/j.cell.2006.09.015 17018277
22. Thermoregulatory and metabolic defects in Huntington's disease transgenic mice implicate PGC-1alpha in Huntington's disease neurodegeneration. P Weydt VV Pineda AE Torrence RT Libby TF Satterfield ER Lazarowski ML Gilbert GJ Morton TK Bammler AD Strand,, et al. Cell metabolism 2006 4 5 349 362 10.1016/j.cmet.2006.10.004 17055784
23. Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16. L Djousse B Knowlton MR Hayden EW Almqvist RR Brinkman CA Ross RL Margolis A Rosenblatt A Durr C Dode,, et al. Neurogenetics 2004 5 2 109 114 10.1007/s10048-004-0175-2 15029481
24. A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study. JL Li MR Hayden EW Almqvist RR Brinkman A Durr C Dode PJ Morrison O Suchowersky CA Ross RL Margolis,, et al. American journal of human genetics 2003 73 3 682 687 10.1086/378133 12900792
25. Associations of PPARGC1A haplotypes with plaque score but not with intima-media thickness of carotid arteries in middle-aged subjects. B Iglseder H Oberkofler TK Felder K Klein B Paulweber F Krempler DA Tregouet W Patsch, Stroke; a journal of cerebral circulation 2006 37 9 2260 2265 16902166
26. Complex haplotypes of the PGC-1alpha gene are associated with carbohydrate metabolism and type 2 diabetes. H Oberkofler V Linnemayr R Weitgasser K Klein M Xie B Iglseder F Krempler B Paulweber W Patsch, Diabetes 2004 53 5 1385 1393 10.2337/diabetes.53.5.1385 15111510
27. PGC-1 coactivators: inducible regulators of energy metabolism in health and disease. BN Finck DP Kelly, The Journal of clinical investigation 2006 116 3 615 622 10.1172/JCI27794 16511594
28. PGC-1 alpha regulates expression of myocardial mitochondrial antioxidants and myocardial oxidative stress after chronic systolic overload. Z Lu X Xu X Hu J Fassett G Zhu Y Tao J Li Y Huang P Zhang B Zhao,, et al. Antioxidants & redox signaling 2010 13 7 1011 1022
29. The role of PGC-1alpha in the pathogenesis of neurodegenerative disorders. K Rona-Voros P Weydt, Current drug targets 2010 11 10 1262 1269 20840068
30. An autoregulatory loop controls peroxisome proliferator-activated receptor gamma coactivator 1alpha expression in muscle. C Handschin J Rhee J Lin PT Tarr BM Spiegelman, Proceedings of the National Academy of Sciences of the United States of America 2003 100 12 7111 7116 10.1073/pnas.1232352100 12764228
31. Thiazolidinediones and rexinoids induce peroxisome proliferator-activated receptor-coactivator (PGC)-1alpha gene transcription: an autoregulatory loop controls PGC-1alpha expression in adipocytes via peroxisome proliferator- activated receptor-gamma coactivation. E Hondares O Mora P Yubero M Rodriguez de la Concepcion R Iglesias M Giralt F Villarroya, Endocrinology 2006 147 6 2829 2838 10.1210/en.2006-0070 16513826
32. Widespread expression of Huntington's disease gene (IT15) protein product. AH Sharp SJ Loev G Schilling SH Li XJ Li J Bao MV Wagster JA Kotzuk JP Steiner A Lo,, et al. Neuron 1995 14 5 1065 1074 10.1016/0896-6273(95)90345-3 7748554
33. Towards a transgenic model of Huntington's disease in a non-human primate. SH Yang PH Cheng H Banta K Piotrowska-Nitsche JJ Yang EC Cheng B Snyder K Larkin J Liu J Orkin,, et al. Nature 2008 453 7197 921 924 10.1038/nature06975 18488016
34. Decreased association of the transcription factor Sp1 with genes downregulated in Huntington's disease. AS Chen-Plotkin G Sadri-Vakili GJ Yohrling MW Braveman CL Benn KE Glajch DP DiRocco LA Farrell D Krainc S Gines,, et al. Neurobiology of disease 2006 22 2 233 241 10.1016/j.nbd.2005.11.001 16442295
35. Interference by huntingtin and atrophin-1 with cbp-mediated transcription leading to cellular toxicity. FC Nucifora M Sasaki MF Peters H Huang JK Cooper M Yamada H Takahashi S Tsuji J Troncoso VL Dawson,, et al. Science (New York, NY) 2001 291 5512 2423 2428 10.1126/science.1056784 (Pubitemid 32231807)
36. The Huntington's disease protein interacts with p53 and CREB-binding protein and represses transcription. JS Steffan A Kazantsev O Spasic-Boskovic M Greenwald YZ Zhu H Gohler EE Wanker GP Bates DE Housman LM Thompson, Proceedings of the National Academy of Sciences of the United States of America 2000 97 12 6763 6768 10.1073/pnas.100110097 10823891
37. Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease. S Metzger P Bauer J Tomiuk F Laccone S Didonato C Gellera C Mariotti HW Lange H Weirich-Schwaiger GK Wenning,, et al. Human genetics 2006 120 2 285 292 10.1007/s00439-006-0221-2 16847693
38. Genotyping of single-nucleotide polymorphisms by high-resolution melting of small amplicons. M Liew R Pryor R Palais C Meadows M Erali E Lyon C Wittwer, Clinical chemistry 2004 50 7 1156 1164 10.1373/clinchem.2004.032136 15229148