A mitochondrial mutation A4401G is involved in the pathogenesis of left ventricular hypertrophy in Chinese hypertensives

European Journal of Human Genetics

Volumn 17, Issue 2, 2009, Pages 172-178

  Zhu, Hai Yan ^a,b   Wang, Shi Wen ^a   Liu, Li ^c   Li, Yan Hua ^a   Chen, Rui ^a   Wang, Lin ^a   Holliman, James C ^d  

^a CHINESE PLA GENERAL HOSPITAL   (China)

^b GENERAL HOSPITAL OF PEOPLE'S LIBERATION ARMY   (China)

^c PEKING UNION MEDICAL COLLEGE   (China)

^d WALTER REED ARMY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE; DIGOXIGENIN; GUANOSINE; METHIONINE; MITOCHONDRIAL DNA; OLIGONUCLEOTIDE; TRANSFER RNA;

ADULT; ARTICLE; BLOOD PRESSURE MEASUREMENT; CHINA; CHINESE; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC RISK; GENETIC SCREENING; HEART LEFT VENTRICLE HYPERTROPHY; HEART MUSCLE OXYGEN CONSUMPTION; HUMAN; HUMAN CELL; HYPERTENSION; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NORTHERN BLOTTING; PATHOGENESIS; PEDIGREE ANALYSIS; POPULATION GENETICS; PRIORITY JOURNAL; RISK ASSESSMENT; RNA ANALYSIS; RNA PROCESSING;

ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CELL TRANSFORMATION, NEOPLASTIC; DNA, MITOCHONDRIAL; FEMALE; HUMANS; HYPERTENSION; HYPERTROPHY, LEFT VENTRICULAR; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; RNA, TRANSFER, GLN; RNA, TRANSFER, MET;

EID: 58349095350     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.151     Document Type: Article

References (26)

1. Chobanian AV, Bakris GL, Black HR et al: The Seventh Report of the joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure: The JNC 7 report. JAMA 2003; 289: 2560-2572.
2. LS. L: 2005 Guidelines for prevention and treatment of hypertension in China, 1st edn Beijing: People's medical publishing house, 2007, pp 1-8.
3. Julien J, Tranche C, Souchet T. Left ventricular hypertrophy in hypertensive patients. Epidemiology and prognosis. Arch Mal Coeur Vaiss 2004; 97: 221-227.
4. Krauser DG, Devereux RB: Ventricular hypertrophy and hypertension: prognostic elements and implications for management. Herz 2006; 31: 305-316.
5. Fu C, Wang H, Wang S et al: Association of beta (1)-adrenergic receptor gene polymorphisms with left ventricular hypertrophy in human essential hypertension. Clin Biochem 2008; 41: 773-778.
6. Walther T, Tschope C, Sterner-Kock A et al: Accelerated mitochondrial adenosine diphosphate/adenosine triphosphate transport improves hypertension-induced heart disease. Circulation 2007; 115: 333-344.
7. Schapira AH: Mitochondrial disease. Lancet 2006; 368: 70-82.
8. Hirano M, Davidson M, DiMauro S: Mitochondria and the heart. Curr Opin Cardiol 2001; 16: 201-210.
9. Merante F, Myint T, Tein I, Benson L, Robinson BH: An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy. Hum Mutat 1996; 8: 216-222
10. Casali C, Santorelli FM, D'Amati G, Bernucci P, DeBiase L, DiMauro S: A novel mtDNA point mutation in maternally inherited cardiomyopathy. Biochem Biophys Res Commun 1995; 213: 588-593.
11. Safar ME, Czernichow S, Blacher J: Obesity, arterial stiffness, and cardiovascular risk. Am Soc Nephrol 2006; 17 (4 Suppl 2): S109-S111.
12. Sahn DJ, DeMaria A, Kisslo J, Weyman A: Recommendations regarding quantitation in M-mode echocardiography: Results of a survey of echocardiographic measurements. Circulation 1978; 58: 1072-1083.
13. Devereux RB: Detection of left ventricular hypertrophy by M-mode echocardiography. Anatomic validation, standardization, and comparison to other methods. Hypertension 1987; 9: 1119-1126.
14. Silvestri G, Santorelli FM, Shanske S et al: A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy. Hum Mutat 1994; 3: 37-43.
15. Anderson S, Bankier AT, Barrell BG et al: Sequence and organization of the human mitochondrial genome. Nature 1981; 290: 457-465.
16. Miller G, Lipman M: Release of infectious Epstein-Barr virus by transformed marmoset leukocytes. Proc Natl Acad Sci USA 1973; 70: 190-194.
17. King MP, Attardi G: Post-transcriptional regulation of the steady-state levels of mitochondrial tRNAs in HeLa cells. J Biol Chem 1993; 268: 10228-10237.
18. Enriquez JA, Chomyn A, Attardi G: MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination. Nat Genet 1995; 10: 47-55.
19. King MP, Attardi G: HRman cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science 1989; 246 500-503.
20. de Simone G, Pasanisi F, Contaldo F: Link of nonhemodynamic factors to hemodynamic determinants of left ventricular hypertrophy. Hypertension 2001; 38: 13-18.
21. Lekakis JP, Zakopoulos NA, Protogerou AD et al: Cardiac hypertrophy in hypertension: Relation to 24-h blood pressure profile and arterial stiffness. Int J Cardiol 2004; 97: 29-33.
22. Zhu HY, Wang SW: Mitochondria and left ventricular hypertrophy. J Geriatr Cardiol 2008; 5: 50-59.
23. Ritz P, Berrut G: Mitochondrial function, energy expenditure, aging and insulin resistance. Diabetes Metab 2005; 2: 5S67-5S73.
24. Clayton D, WilMiams R, Liang I1: Meeting highlights: mitochondrial DNA mutations and cardiomyopathy, heart failure, and ischemic heart disease. Circulation 1995; 92: 2022-2023.
25. Laine H, Katoh C, Luotolahti M et al: Myocardial oxygen consumption is unchanged but efficiency is reduced in patients with essential, hypertension and left ventricular hypertrophy. Circulation 1999; 00: 2425-2430.
26. Carelli V, Giordano C, d!Amati G: Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction. Trends Genet 2003; 19: 257-262.