Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease

Human Genetics

Volumn 120, Issue 2, 2006, Pages 285-292

  Metzger, Silke ^a   Bauer, Peter ^a   Tomiuk, Jürgen ^a   Laccone, Franco ^b   DiDonato, Stefano ^c   Gellera, Cinzia ^c   Mariotti, Caterina ^c   Lange, Herwig W ^d   Weirich Schwaiger, Halger ^e   Wenning, Gregor K ^e   Seppi, Klaus ^e   Melegh, Bela ^f   Havasi, Viktoria ^f   Balikó, Laszlo ^f,g   Wieczorek, Stefan ^h   Zaremba, Jacek ⁱ   Hoffman Zacharska, Dorota ⁱ   Sulek, Anna ⁱ   Basak, A Nazli ^j   Soydan, Esra ^j   Zidovska, Jana ^k   Kebrdlova, Vera ^k   Pandolfo, Massimo ^l   Ribaï, Pascale ^l   Kadasi, Ludovit ^m   Kvasnicova, Marta ⁿ   Weber, Bernhard H F ^o,p   Kreuz, Friedmar ^q   Dose, Matthias ⁿ   Stuhrmann, Manfred ^r   Riess, Olaf ^a   more..

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b UNIVERSITY OF GÖTTINGEN   (Germany)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

^d Air Rehazentrum   (Germany)

^e INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^f UNIVERSITY OF PÉCS   (Hungary)

^g Csolnoky Ferenc County Hospital   (Hungary)

^h RUHR UNIVERSITY BOCHUM   (Germany)

ⁱ INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

^j BOGAZICI UNIVERSITY   (Turkey)

^k CHARLES UNIVERSITY   (Czech Republic)

^l ERASME HOSPITAL   (Belgium)

^m INSTITUTE OF MOLECULAR PHYSIOLOGY AND GENETICS   (Slovakia)

ⁿ Department of Clinical Genetics ^*  (Germany)

^o UNIVERSITY OF WÜRZBURG   (Germany)

^p UNIVERSITY OF REGENSBURG   (Germany)

^q KLINIKUM CHEMNITZ   (Germany)

^r LEIBNIZ UNIVERSITY HANNOVER   (Germany)

more..

Author keywords

Age at onset; Association study; Genetic modifiers; Huntington's disease

Indexed keywords

BRAIN DERIVED NEUROTROPHIC FACTOR; GLUTAMATE RECEPTOR; HUNTINGTIN; HUNTINGTIN INTERACTING PROTEIN 1; HUNTINGTIN INTERACTING PROTEIN 14; PROTEIN GRIK2; TRANSFERRIN BINDING PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ARTICLE; CONTROLLED STUDY; DISEASE COURSE; DNA MODIFICATION; ENVIRONMENTAL FACTOR; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC CODE; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HEREDITY; HUMAN; HUNTINGTON CHOREA; INFORMED CONSENT; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; ONSET AGE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN INTERACTION;

ACYLTRANSFERASES; ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; BRAIN-DERIVED NEUROTROPHIC FACTOR; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; DNA-BINDING PROTEINS; HUMANS; HUNTINGTON DISEASE; MIDDLE AGED; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; POLYMORPHISM, GENETIC; RECEPTORS, KAINIC ACID; TATA-BOX BINDING PROTEIN;

EID: 33746961204     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-006-0221-2     Document Type: Article

References (33)

1. Alberch J, López M, Badenas C, Carrasco JL, Milà M, Muñoz E, Canals JM (2005) Association between BDNF Val66Met polymorphism and age at onset in Huntington disease. Neurology 65:964-965 964-965
2. Andrew SE, Goldberg YP, Kremer B, Telenius H, Theilmann J, Adam S, Starr E, Squitieri F, Lin B, Kalchman MA, Graham RK, Hayden MR (1993) The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nat Genet 4:398-403
3. Arning L, Kraus PH, Valentin S, Saft C, Andrich J, Epplen JT (2005) NR2A and NR2B receptor gene variations modify age at onset in Huntington disease. Neurogenetics 6:25-28
4. Brinkman RR, Mezei MM, Theilmann J, Almqvist E, Hayden MR (1997) The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size. Am J Hum Genet 60:1202-1210
5. Chattopadhyay B, Ghosh S, Gangopadhyay PK, Das SK, Roy T, Sinha KK, Jha DK, Mukherjee SC, Chakraborty A, Singhal BS, Bhattacharya AK, Bhattacharyya NP (2003) Modulation of age-at-onset in Huntington's disease and spinocerebellar ataxia type 2 patients originated from eastern India. Neurosci Lett 345:93-96
6. den Dunnen JT, Antonarakis SE (2001) Nomenclature for the description of human sequence variations. Hum Genet 109:121-124
7. Djoussé L, Knowlton B, Hayden MR, Almqvist EW, Brinkman RR, Ross CA, Margolis RL, Rosenblatt A, Durr A, Dodé C, Morrison PJ, Novelletto A, Frontali M, Trent RJA, McCusker E, Gómez-Tortosa E, Cabrero DM, Jones R, Zanko A, Nance M, Abramson RK, Suchowersky O, Paulsen JS, Harrison MB, Yang Q, Cupples LA, Mysore J, Gusella JF, MacDonald ME, Myers RH (2004) Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16. Neurogenetics 5:109-114
8. Egan MF, Kojima M, Callicott JH, Goldberg TE, Kolachana BS, Bertolino A, Zaitsev E, Gold B, Goldman D, Dean M, Lu B, Weinberger DR (2003) The BDNF val66met polymorphism affects activity-dependent secretion of BDNF and human memory and hippocampal function. Cell 112:257-269
9. Gervais FG, Singaraja R, Xanthoudakis S, Gutekunst CA, Leavitt BR, Metzler M, Hackam AS, Tam J, Vaillancourt JP, Houtzager V, Rasper DM, Roy S, Hayden MR, Nicholson DW (2002) Recruitment and activation of caspase-8 by the huntingtin-interacting protein Hip-1 and a novel partner Hippi. Nat Cell Biol 4:95-105
10. Haigh B, Huq M, Hayden MR (accessed May 25, 2004) Huntington disease. In: Gene reviews [online]. Available at: http://www.geneclinics.org/servlet/ access?id=8888891&key=28UhX7Ix0tj-L&gry=&fcny&fw= uoW9&filename=/profiles/huntington/index.html
11. Hockley E, Cordery PM, Woodman B, Mahal A, Dellen A, Blakemore C, Lewis CM, Hannan AJ, Bates GP (2002) Environmental enrichment slows disease progression in R6/2 Huntington's disease mice. Ann Neurol 51:235-242
12. Holbert S, Denghien I, Kiechle T, Rosenblatt A, Wellington C, Hayden MR, Margolis RL, Ross CA, Dausset J, Ferrante RJ, Néri C (2001) The Gln-Ala repeat transcriptional activator CA150 interacts with huntingtin: Neuropathologic and genetic evidence for a role in Huntington's disease pathogenesis. Proc Natl Acad Sci USA 98:1811-1816
13. Kehoe P, Krawczak M, Harper PS, Owen MJ, Jones AL (1999) Age of onset in Huntington disease: Sex specific influence of apolipoprotein E genotype and normal CAG repeat length. J Med Genet 36:108-111
14. Li J-L, Hayden MR, Almqvist EW, Brinkman RR, Durr A, Dodé C, Morrison PJ, Suchowersky O, Ross CA, Margolis RL, Rosenblatt A, Gómez-Tortosa E, Cabrero DM, Novelletto A, Frontali M, Nance M, Trent RJA, McCusker E, Jones R, Paulsen JS, Harrison M, Zanko A, Abramson RK, Russ AL, Knowlton B, Djoussé L, Mysore JS, Tariot S, Gusella MF, Wheeler VC, Atwood LD, Cupples LA, Saint-Hilaire M, Cha J-HJ, Hersch SM, Koroshetz WJ, Gusella JF, MacDonald ME, Myers RH (2003) A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study. Am J Hum Genet 73:682-687
15. MacDonald ME, Vonsattel JP, Shrinidhi J, Couropmitree NN, Cupples LA, Bird ED, Gusella JF, Myers RH (1999) Evidence for the GluR6 gene associated with younger onset age of Huntington's disease. Neurology 53:1330-1332
16. Metzger S, Bauer P, Tomiuk J, Laccone F, Didonato S, Gellera C, Soliveri P, Lange HW, Weirich-Schwaiger H, Wenning GK, Melegh B, Havasi V, Balikó L, Wieczorek S, Arning L, Zaremba J, Sulek A, Hoffman-Zacharska D, Basak AN, Ersoy N, Zidovska J, Kebrdlova V, Pandolfo M, Ribaï P, Kebrdlova V, Kadasi L, Kvasnicova M, Weber BHF, Kreuz F, Dose M, Stuhrmann M, Riess O (2006) The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease. Neurogenetics 7:27-30
17. Nazé P, Vuillaume I, Destée A, Pasquier F, Sablonnière B (2002) Mutation analysis and association studies of the ubiquitin carboxy-terminal hydrolase L1 gene in Huntington's disease. Neurosci Lett 328:1-4
18. Paschen W, Blackstone CD, Huganir RL, Ross CA (1994) Human GluR6 kainate receptor (GRIK2): Molecular cloning, expression, polymorphism, and chromosomal assignment. Genomics 20:435-440
19. Riess O, Noerremoelle A, Soerensen SA, Epplen JT (1993) Improved conditions for the stretch of (CAG)n repeats causing Huntington's disease. Hum Mol Genet 2:637-1523
20. Rolfs A, Koeppen AH, Bauer I, Bauer P, Buhlmann S, Topka H, Schöls L, Riess O (2003) Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol 54:367-375
21. Rosenblatt A, Brinkman RR, Liang KY, Almqvist EW, Margolis RL, Huang CY, Sherr M, Franz ML, Abbott MH, Hayden MR, Ross CA (2002) Familial influence on age of onset among siblings with Huntington disease. Am J Med Genet 105:399-403
22. Rubinsztein DC, Leggo J, Chiano M, Dodge A, Norbury G, Rosser E, Craufurd D (1997) Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease. Proc Natl Acad Sci USA 94:3872-3876
23. Schaffar G, Breuer P, Boteva R, Behrends C, Tzvetkov N, Strippel N, Sakahira H, Siegers K, Hayer-Hartl M, Hartl FU (2004) Cellular toxicity of polyglutamine expansion proteins: Mechanism of transcription factor deactivation. Mol Cell 15:95-105
24. Singaraja RR, Hadano S, Metzler M, Givan S, Wellington CL, Warby S, Yanai A, Gutekunst CA, Leavitt BR, Yi H, Fichter K, Gan L, McCutcheon K, Chopra V, Michel J, Hersch SM, Ikeda J-E, Hayden MR (2002) HIP14, a novel ankyrin domain-containing protein, links huntingtin to intracellular trafficking and endocytosis. Hum Mol Genet 11:2815-2828
25. Stine OC, Pleasant N, Franz ML, Abbott MH, Folstein SE, Ross CA (1993) Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15. Hum Mol Genet 2:1547-1549
26. Tanaka M, Machida Y, Niu S, Ikeda T, Jana NR, Doi H, Kurosawa M, Nekooki M, Nukina N (2004) Trehalose alleviates polyglutamine-mediated pathology in a mouse model of Huntington disease. Nat Med 10:148-154
27. 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 26:971-983
28. The U.S.-Venezuela Collaborative Research Project, Wexler NS (2004) Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc Natl Acad Sci 101:3498-3503
29. Thu DCV, Oorschot DE, Tippet L, Hogg V, Waldvogel HJ, Faull RLM (2005) The variable pattern of cell loss in the cerebral cortex correlates with the variable pattern of symptomatology in Huntington's disease [abstract]. J Neurol Neurosurg Psychiatry 76(suppl 4):A16
30. van Dellen A, Blakemore C, Deacon R, York D, Hannan AJ (2000) Delaying the onset of Huntington's in mice. Nature 404:721-722
31. Wanker EE, Rovira C, Scherzinger E, Hasenbank R, Walter S, Tait D, Colicelli J, Lehrach H (1997) HIP-I: A huntingtin interacting protein isolated by the yeast two-hybrid system. Hum Mol Genet 6:487-495
32. Yanagisawa H, Bundo M, Miyashita Y, Okamura-Oho Y, Tadokoro K, Tokunaga K, Yamada M (2000) Protein binding of a DRPLA family through arginine-glutamic acid dipeptide repeats is enhanced by extended polyglutamine. Hum Mol Genet 9:1433-1442
33. Zuccato C, Ciammola A, Rigamonti D, Leavitt BR, Goffredo D, Conti L, MacDonald ME, Friedlander RM, Silani V, Hayden MR, Timmusk T, Sipione S, Cattaneo E (2001) Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease. Science 293:493-498