Mitochondrial haplogroup H correlates with ATP levels and age at onset in Huntington disease

Journal of Molecular Medicine

Volumn 88, Issue 4, 2010, Pages 431-436

  Arning, Larissa ^a   Haghikia, Aiden ^b   Taherzadeh Fard, Elahe ^a   Saft, Carsten ^b   Andrich, Jürgen ^b   Pula, Bartoz ^b   Höxtermann, Stefan ^b   Wieczorek, Stefan ^a   Akkad, Denis Amer ^a   Perrech, Moritz ^b   Gold, Ralf ^b   Epplen, Jörg Thomas ^a   Chan, Andrew ^b  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b ST JOSEF HOSPITAL   (Germany)

Author keywords

Age at onset; ATP; Huntington disease; MtDNA haplogroups

Indexed keywords

ADENOSINE TRIPHOSPHATE; CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA COACTIVATOR 1ALPHA;

ADOLESCENT; ADULT; AGED; ARTICLE; CONTROLLED STUDY; DEGENERATIVE DISEASE; EUROPE; GENOTYPE; HUMAN; HUNTINGTON CHOREA; LEUKOCYTE; MAJOR CLINICAL STUDY; ONSET AGE; PATHOGENESIS; PHENOTYPE; SINGLE NUCLEOTIDE POLYMORPHISM; TRINUCLEOTIDE REPEAT; VARIANCE;

ADENOSINE TRIPHOSPHATE; ADOLESCENT; ADULT; AGE OF ONSET; AGED; ALLELES; COHORT STUDIES; DNA, MITOCHONDRIAL; HAPLOTYPES; HUMANS; HUNTINGTON DISEASE; MIDDLE AGED; MITOCHONDRIA; NEURODEGENERATIVE DISEASES; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 77951256226     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00109-010-0589-2     Document Type: Article

References (39)

1. The Huntington's Disease Collaborative Research Group 1993 A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes Cell 72 971 983 10.1016/0092-8674(93)90585-E (Pubitemid 23110238)
2. RG Snell JC MacMillan JP Cheadle I Fenton LP Lazarou P Davies ME MacDonald JF Gusella PS Harper DJ Shaw 1993 Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease Nat Genet 4 393 397 10.1038/ng0893-393 1:CAS:528:DyaK3sXltlKrs70%3D 8401588 (Pubitemid 23231489)
3. SE Andrew YP Goldberg B Kremer H Telenius J Theilmann S Adam E Starr F Squitieri B Lin MA Kalchman, et al. 1993 The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease Nat Genet 4 398 403 10.1038/ng0893-398 1:CAS:528:DyaK3sXlsFOmsL4%3D 8401589 (Pubitemid 23231490)
4. M Duyao C Ambrose R Myers A Novelletto F Persichetti M Frontali S Folstein C Ross M Franz M Abbott, et al. 1993 Trinucleotide repeat length instability and age of onset in Huntington's disease Nat Genet 4 387 392 10.1038/ng0893-387 1:CAS:528:DyaK3sXltlKrs7w%3D 8401587 (Pubitemid 23231488)
5. Andresen JM, Gayán J, Cherny SS, Brocklebank D, Alkorta-Aranburu G, Addis EA; US-Venezuela Collaborative Research Group, Cardon LR, Housman DE, Wexler NS 2007 Replication of twelve association studies for Huntington's disease residual age of onset in large Venezuelan kindreds J Med Genet 44 44 50
6. L Arning C Saft S Wieczorek J Andrich PH Kraus JT Epplen 2007 NR2A and NR2B receptor gene variations modify age at onset in Huntington disease in a sex-specific manner Hum Genet 122 175 182 10.1007/s00439-007-0393-4 1:CAS:528:DC%2BD2sXoslGhtrg%3D 17569088 (Pubitemid 47241782)
7. L Arning D Monté W Hansen S Wieczorek P Jagiello DA Akkad J Andrich PH Kraus C Saft JT Epplen 2008 ASK1 and MAP2K6 as modifiers of age at onset in Huntington's disease J Mol Med 86 485 490 10.1007/s00109-007-0299-6 1:CAS:528:DC%2BD1cXkvVSjtLw%3D 18327563
8. S Metzger J Rong HP Nguyen A Cape J Tomiuk AS Soehn P Propping Y Freudenberg-Hua J Freudenberg L Tong, et al. 2008 Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease Hum Mol Genet 17 1137 1146 10.1093/hmg/ddn003 1:CAS:528:DC%2BD1cXktlSktbY%3D 18192679 (Pubitemid 351494185)
9. JF Gusella ME Macdonald 2009 Huntington's disease: the case for genetic modifiers Genome Med 8 80 10.1186/gm80
10. P Weydt SM Soyal C Gellera S Didonato C Weidinger H Oberkofler GB Landwehrmeyer W Patsch 2009 The gene coding for PGC-1alpha modifies age at onset in Huntington's disease Mol Neurodegener 4 3 10.1186/1750-1326-4-3 19133136
11. E Taherzadeh-Fard C Saft J Andrich S Wieczorek L Arning 2009 PGC-1 alpha as modifier of onset age in Huntington disease Mol Neurodegener 4 10 10.1186/1750-1326-4-10 19200361
12. MT Lin MF Beal 2006 Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases Nature 443 787 795 10.1038/nature05292 1:CAS:528:DC%2BD28XhtVyktbbO 17051205 (Pubitemid 44622683)
13. E Bossy-Wetzel A Petrilli AB Knott 2008 Mutant huntingtin and mitochondrial dysfunction Trends Neurosci 31 609 616 10.1016/j.tins.2008.09.004 1:CAS:528:DC%2BD1cXhsVWrs7rL 18951640
14. BG Jenkins WJ Koroshetz MF Beal BR Rosen 1993 Evidence for impairment of energy metabolism in vivo in Huntington's disease using localized 1H NMR spectroscopy Neurology 43 2689 2695 1:STN:280:DyaK2c%2FnslCjsw%3D%3D 8255479
15. R Lodi AH Schapira D Manners P Styles NW Wood DJ Taylor TT Warner 2000 Abnormal in vivo skeletal muscle energy metabolism in Huntington's disease and dentatorubropallidoluysian atrophy Ann Neurol 48 72 76 10.1002/1531-8249(200007) 48:1<72::AID-ANA11>3.0.CO;2-I 1:STN:280:DC%2BD3czltVOitA%3D%3D 10894218 (Pubitemid 30432433)
16. C Saft J Zange J Andrich K Müller K Lindenberg B Landwehrmeyer M Vorgerd PH Kraus H Przuntek L Schöls 2005 Mitochondrial impairment in patients and asymptomatic mutation carriers of Huntington's disease Mov Disord 20 674 679 10.1002/mds.20373 15704211 (Pubitemid 41051778)
17. Aziz NA, van der Burg JM, Landwehrmeyer GB, Brundin P, Stijnen T; EHDI Study Group, Roos RA 2008 Weight loss in Huntington disease increases with higher CAG repeat number Neurology 71 1506 1513 10.1212/01.wnl.0000334276.09729. 0e
18. DC Wallace MD Brown MT Lott 1999 Mitochondrial DNA variation in human evolution and disease Gene 238 211 230 10.1016/S0378-1119(99)00295-4 1:CAS:528:DyaK1MXntFKnu7g%3D 10570998 (Pubitemid 29436110)
19. AK Niemi JS Moilanen M Tanaka A Hervonen M Hurme T Lehtimäki Y Arai N Hirose K Majamaa 2005 A combination of three common inherited mitochondrial DNA polymorphisms promotes longevity in Finnish and Japanese subjects Eur J Hum Genet 13 166 170 10.1038/sj.ejhg.5201308 1:CAS:528:DC%2BD2MXnt1WntQ%3D%3D 15483642 (Pubitemid 40220560)
20. JM van der Walt KK Nicodemus ER Martin WK Scott MA Nance RL Watts JP Hubble JL Haines WC Koller K Lyons, et al. 2003 Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease Am J Hum Genet 72 804 811 10.1086/373937 12618962 (Pubitemid 36403301)
21. JM van der Walt YA Dementieva ER Martin, et al. 2004 Analysis of European mitochondrial haplogroups with Alzheimer disease risk Neurosci Lett 365 28 32 10.1016/j.neulet.2004.04.051 15234467 (Pubitemid 38952729)
22. S Takasaki 2008 Mitochondrial SNPs associated with Japanese centenarians, Alzheimer's patients, and Parkinson's patients Comput Biol Chem 32 332 337 10.1016/j.compbiolchem.2008.03.014 1:CAS:528:DC%2BD1cXhtVOmu7fM 18468491
23. S Vogler R Goedde B Miterski R Gold A Kroner D Koczan UK Zettl P Rieckmann JT Epplen SM Ibrahim 2005 Association of a common polymorphism in the promoter of UCP2 with susceptibility to multiple sclerosis J Mol Med 83 806 811 10.1007/s00109-005-0661-5 1:CAS:528:DC%2BD2MXhtVOhur3J 16021520 (Pubitemid 41407864)
24. L Arning PH Kraus S Valentin C Saft J Andrich JT Epplen 2005 NR2A and NR2B receptor gene variations modify age at onset in Huntington disease Neurogenetics 6 25 28 10.1007/s10048-004-0198-8 1:CAS:528:DC%2BD2MXhslGgu7Y%3D 15742215 (Pubitemid 40394827)
25. M Wiesbauer D Meierhofer JA Mayr W Sperl B Paulweber B Kofler 2006 Multiplex primer extension analysis for rapid detection of major European mitochondrial haplogroups Electrophoresis 27 3864 3868 10.1002/elps.200600086 1:CAS:528:DC%2BD28XhtFygurfK 16960846 (Pubitemid 44608405)
26. A Rosa BV Fonseca T Krug H Manso L Gouveia I Albergaria G Gaspar M Correia M Viana-Baptista RM Simões, et al. 2008 Mitochondrial haplogroup H1 is protective for ischemic stroke in Portuguese patients BMC Med Genet 9 57 10.1186/1471-2350-9-57 18593462
27. AV Panov CA Gutekunst BR Leavitt MR Hayden JR Burke WJ Strittmatter JT Greenamyre 2002 Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines Nat Neurosci 5 731 736 1:CAS:528: DC%2BD38XlsFaqu7g%3D 12089530
28. A Sawa GW Wiegand J Cooper RL Margolis AH Sharp JF Lawler Jr JT Greenamyre SH Snyder CA Ross 1999 Increased apoptosis of Huntington disease lymphoblasts associated with repeat length-dependent mitochondrial depolarization Nat Med 5 1194 1198 10.1038/13518 1:CAS:528:DyaK1MXms1Wkt7w%3D 10502825 (Pubitemid 29474426)
29. IS Seong E Ivanova JM Lee YS Choo E Fossale M Anderson JF Gusella JM Laramie RH Myers M Lesort, et al. 2005 HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism Hum Mol Genet 14 2871 2880 10.1093/hmg/ddi319 1:CAS:528:DC%2BD2MXhtVWnt7jF 16115812 (Pubitemid 41418792)
30. SV Baudouin D Saunders W Tiangyou JL Elson J Poynter A Pyle S Keers DM Turnbull N Howell PF Chinnery 2005 Mitochondrial DNA and survival after sepsis: a prospective study Lancet 366 2118 2121 10.1016/S0140-6736(05)67890-7 16360789 (Pubitemid 41797646)
31. SL Hendrickson HB Hutcheson E Ruiz-Pesini JC Poole J Lautenberger E Sezgin L Kingsley JJ Goedert D Vlahov S Donfield, et al. 2008 Mitochondrial DNA haplogroups influence AIDS progression AIDS 22 2429 2439 10.1097/QAD. 0b013e32831940bb 1:CAS:528:DC%2BD1cXhtlKrt7bI 19005266
32. MD Brand 2000 Uncoupling to survive? The role of mitochondrial inefficiency in ageing Exp Gerontol 35 811 820 10.1016/S0531-5565(00)00135-2 1:CAS:528:DC%2BD3cXot1Wqtrs%3D 11053672
33. M Mancuso L Kiferle L Petrozzi C Nesti A Rocchi R Ceravolo D Orsucci MR Maluccio U Bonuccelli M Filosto, et al. 2008 Mitochondrial DNA haplogroups do not influence the Huntington's disease phenotype Neurosci Lett 444 83 86 10.1016/j.neulet.2008.08.013 1:CAS:528:DC%2BD1cXhtV2jsLvI 18706972
34. G De Benedictis G Rose G Carrieri M De Luca E Falcone G Passarino M Bonafe D Monti G Baggio S Bertolini, et al. 1999 Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans FASEB J 13 1532 1536 10463944 (Pubitemid 29411786)
35. G Rose G Passarino G Carrieri K Altomare V Greco S Bertolini M Bonafè C Franceschi G De Benedictis 2001 Paradoxes in longevity: sequence analysis of mtDNA haplogroup J in centenarians Eur J Hum Genet 9 701 707 10.1038/sj.ejhg.5200703 1:CAS:528:DC%2BD3MXotlKis7s%3D 11571560 (Pubitemid 32923242)
36. AK Niemi A Hervonen M Hurme PJ Karhunen M Jylhä K Majamaa 2003 Mitochondrial DNA polymorphisms associated with longevity in a Finnish population Hum Genet 112 29 33 10.1007/s00439-002-0843-y 1:CAS:528: DC%2BD3sXit1OqsLs%3D 12483296 (Pubitemid 36869112)
37. D Ghezzi C Marelli A Achilli S Goldwurm G Pezzoli P Barone MT Pellecchia P Stanzione L Brusa AR Bentivoglio, et al. 2005 Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians Eur J Hum Genet 13 748 752 10.1038/sj.ejhg.5201425 1:CAS:528:DC%2BD2MXktl2rt74%3D 15827561 (Pubitemid 40846847)
38. E Ruiz-Pesini AC Lapeña C Díez-Sánchez A Pérez-Martos J Montoya E Alvarez M Díaz A Urriés L Montoro MJ López-Pérez, et al. 2000 Human mtDNA haplogroups associated with high or reduced spermatozoa motility Am J Hum Genet 67 682 696 10.1086/303040 1:CAS:528:DC%2BD3cXms1Wgtr8%3D 10936107 (Pubitemid 30659599)
39. D Bellizzi P Cavalcante D Taverna G Rose G Passarino S Salvioli C Franceschi G De Benedictis 2006 Gene expression of cytokines and cytokine receptors is modulated by the common variability of the mitochondrial DNA in ybrid cell lines Genes Cells 11 883 891 10.1111/j.1365-2443.2006.00986.x 1:CAS:528:DC%2BD28XovVKrtL0%3D 16866872 (Pubitemid 44084024)