Cardiac dysfunction in Huntington's disease

Experimental and Clinical Cardiology

Volumn 20, Issue 8, 2014, Pages 2547-2554

  Zielonka, Daniel ^a   Piotrowska, Izabela ^b   Mielcarek, Michal ^c  

^a POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^b NATIONAL INSTITUTE FOR MEDICAL RESEARCH   (United Kingdom)

^c KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

Amyloidosis; Cardiomyopathy; Disease modifying treatment; Heart dysfunction; Huntington's disease; Peripheral pathology; Skeletal muscle atrophy

Indexed keywords

ALPHA CRYSTALLIN; ATRIAL NATRIURETIC FACTOR; BETA CRYSTALLIN; BRAIN NATRIURETIC PEPTIDE; MYOSIN HEAVY CHAIN ALPHA; POLYGLUTAMINE;

AMYLOIDOSIS; CARDIOMYOPATHY; CENTRAL NERVOUS SYSTEM MALFORMATION; CONGENITAL HEART MALFORMATION; CONGESTIVE HEART FAILURE; HEART AMYLOIDOSIS; HEART DISEASE; HEART FAILURE; HEART FUNCTION; HEART MUSCLE; HEART VENTRICLE HYPERTROPHY; HUMAN; HUNTINGTON CHOREA; MUSCLE ATROPHY; NONHUMAN; REVIEW;

EID: 84905862069     PISSN: 12056626     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (43)

1. Novak MJ TS. Huntington's disease. 2010;340:c3109.
2. Gusella JF MM, Ambrose CM, Duyao MP. Molecular genetics of Huntington's disease. 1993;50(11):1157-1163.
3. Vonsattel JP DM. Huntington disease. 1998;57(5):369-384.
4. HDRG. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group. Cell 1993;72:971-83.
5. FO W. Huntington's disease.;369:218-228.
6. Hoogeveen AT, Willemsen R, Meyer N, et al. Characterization and localization of the Huntington disease gene product. Hum. Mol. Genet. 1993;2:2069-73. (Pubitemid 24003400)
7. Li SH, Schilling G, Young WS, 3rd, et al. Huntington's disease gene (IT15) is widely expressed in human and rat tissues. Neuron 1993;11:985-93. (Pubitemid 23347482)
8. Trottier Y, Devys D, Imbert G, et al. Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form. Nature genet. 1995;10:104-10.
9. Li SH LX. Huntingtin-protein interactions and the pathogenesis of Huntington's disease. 2004;20:146-154.
10. van der Burg JM, Bjorkqvist M, Brundin P. Beyond the brain: widespread pathology in Huntington's disease. Lancet neurology 2009;8:765-74.
11. Sassone J CC, Cislaghi G, Silani V, Ciammola A. Huntington's disease: the current state of research with peripheral tissues. 2009;219(2):385-397.
12. Pereira VH, Cerqueira JJ, Palha JA, Sousa N. Stressed brain, diseased heart: a review on the pathophysiologic mechanisms of neurocardiology. International journal of cardiology 2013;166:30-7.
13. Bucciantini M, Giannoni E, Chiti F, et al. Inherent toxicity of aggregates implies a common mechanism for protein misfolding diseases. Nature 2002;416:507-11. (Pubitemid 34288846)
14. Carrell RW. Cell toxicity and conformational disease. Trends in cell biology 2005;15:574-80. (Pubitemid 41619421)
15. Glabe CG, Kayed R. Common structure and toxic function of amyloid oligomers implies a common mechanism of pathogenesis. Neurology 2006;66:S74-8. (Pubitemid 43739989)
16. Sanbe A, Osinska H, Villa C, et al. Reversal of amyloid-induced heart disease in desmin-related cardiomyopathy. Proceedings of the National Academy of Sciences of the United States of America 2005;102:13592-7. (Pubitemid 41420893)
17. Yusuf SW, Solhpour A, Banchs J, et al. Cardiac amyloidosis. Expert review of cardiovascular therapy 2014;12:265-77.
18. Maloyan A, Sanbe A, Osinska H, et al. Mitochondrial dysfunction and apoptosis underlie the pathogenic process in alpha-B-crystallin desmin-related cardiomyopathy. Circulation 2005;112:3451-61. (Pubitemid 43739561)
19. Yamamoto A, Lucas JJ, Hen R. Reversal of neuropathology and motor dysfunction in a conditional model of Huntington's disease. Cell 2000;101:57-66.
20. Labbadia J, Cunliffe H, Weiss A, et al. Altered chromatin architecture underlies progressive impairment of the heat shock response in mouse models of Huntington disease. The Journal of clinical investigation 2011;121:3306-19.
21. Mielcarek M, Landles C, Weiss A, et al. HDAC4 reduction: a novel therapeutic strategy to target cytoplasmic huntingtin and ameliorate neurodegeneration. PLoS biology 2013;11:e1001717.
22. Mielcarek M Benn C, Franklin SA, Smith DL, Woodman B, Marks PA, Bates GP. SAHA decreases HDAC 2 and 4 levels in vivo and improves molecular phenotypes in the R6/2 mouse model of Huntington's disease. PLoS One 2011;6(11):e27746.
23. Pattison JS, Sanbe A, Maloyan A, Osinska H, Klevitsky R, Robbins J. Cardiomyocyte expression of a polyglutamine preamyloid oligomer causes heart failure. Circulation 2008;117:2743-51. (Pubitemid 351770455)
24. Melkani GC, Trujillo AS, Ramos R, Bodmer R, Bernstein SI, Ocorr K. Huntington's Disease Induced Cardiac Amyloidosis Is Reversed by Modulating Protein Folding and Oxidative Stress Pathways in the Drosophila Heart. PLoS genetics 2013;9:e1004024.
25. Mihm MJ, Amann DM, Schanbacher BL, Altschuld RA, Bauer JA, Hoyt KR. Cardiac dysfunction in the R6/2 mouse model of Huntington's disease. Neurobiology of disease 2007;25:297-308. (Pubitemid 46127844)
26. Moffitt H, McPhail GD, Woodman B, Hobbs C, Bates GP. Formation of polyglutamine inclusions in a wide range of non-CNS tissues in the HdhQ150 knock-in mouse model of Huntington's disease. PLoS One 2009;4:e8025.
27. Sathasivam K, Hobbs C, Turmaine M, et al. Formation of polyglutamine inclusions in non-CNS tissue. Human molecular genetics 1999;8:813-22. (Pubitemid 29189048)
28. Kiriazis H, Jennings NL, Davern P, et al. Neurocardiac dysregulation and neurogenic arrhythmias in a transgenic mouse model of Huntington's disease. The Journal of physiology 2012;590:5845-60.
29. Schroeder AM, Loh DH, Jordan MC, Roos KP, Colwell CS. Baroreceptor reflex dysfunction in the BACHD mouse model of Huntington's disease. PLoS currents 2011;3:RRN1266.
30. Griffioen KJ, Wan R, Brown TR, et al. Aberrant heart rate and brainstem brain-derived neurotrophic factor (BDNF) signaling in a mouse model of Huntington's disease. Neurobiology of aging 2012;33:1481 e1-5.
31. Sorensen SA, Fenger K. Causes of death in patients with Huntington's disease and in unaffected first degree relatives. Journal of medical genetics 1992;29:911-4. (Pubitemid 23035219)
32. Chiu E, Alexander L. Causes of death in Huntington's disease. The Medical journal of Australia 1982;1:153.
33. Lanska DJ, Lavine L, Lanska MJ, Schoenberg BS. Huntington's disease mortality in the United States. Neurology 1988;38:769-72.
34. Lanska DJ, Lanska MJ, Lavine L, Schoenberg BS. Conditions associated with Huntington's disease at death. A case-control study. Archives of neurology 1988;45:878-80.
35. Andrich J, Schmitz T, Saft C, et al. Autonomic nervous system function in Huntington's disease. Journal of neurology, neurosurgery, and psychiatry 2002;72:726-31. (Pubitemid 34557013)
36. Kobal J, Melik Z, Cankar K, et al. Autonomic dysfunction in presymptomatic and early symptomatic Huntington's disease. Acta neurologica Scandinavica 2010;121:392-9.
37. Bar KJ, Boettger MK, Andrich J, et al. Cardiovagal modulation upon postural change is altered in Huntington's disease. European journal of neurology : the official journal of the European Federation of Neurological Societies 2008;15:869-71.
38. Melik Z, Kobal J, Cankar K, Strucl M. Microcirculation response to local cooling in patients with Huntington's disease. Journal of neurology 2012;259:921-8.
39. Eisenhofer G, Friberg P, Rundqvist B, et al. Cardiac sympathetic nerve function in congestive heart failure. Circulation 1996;93:1667-76. (Pubitemid 26131343)
40. Esler M, Kaye D. Measurement of sympathetic nervous system activity in heart failure: the role of norepinephrine kinetics. Heart failure reviews 2000;5:17-25. (Pubitemid 30301508)
41. Sharma KR, Romano JG, Ayyar DR, Rotta FT, Facca A, Sanchez-Ramos J. Sympathetic skin response and heart rate variability in patients with Huntington disease. Archives of neurology 1999;56:1248-52. (Pubitemid 29473217)
42. Kobal J, Meglic B, Mesec A, Peterlin B. Early sympathetic hyperactivity in Huntington's disease. European journal of neurology : the official journal of the European Federation of Neurological Societies 2004;11:842-8.
43. Aziz NA, Anguelova GV, Marinus J, van Dijk JG, Roos RA. Autonomic symptoms in patients and pre-manifest mutation carriers of Huntington's disease. European journal of neurology : 2010;17:1068-74.