The 12S rRNA A1555G mutation in the mitochondrial haplogroup D5a is responsible for maternally inherited hypertension and hearing loss in two Chinese pedigrees

European Journal of Human Genetics

Volumn 20, Issue 6, 2012, Pages 607-612

  Chen, Hong ^a   Zheng, Jing ^a   Xue, Ling ^a   Meng, Yanzi ^a   Wang, Yan ^a   Zheng, Bingjiao ^a   Fang, Fang ^a   Shi, Suxue ^a   Qiu, Qiaomeng ^a   Jiang, Pingping ^b   Lu, Zhongqiu ^a   Mo, Jun Qin ^c   Lu, Jianxin ^a   Guan, Min Xin ^a,b,c  

^a WENZHOU MEDICAL UNIVERSITY   (China)

^b ZHEJIANG UNIVERSITY   (China)

^c CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

12S rRNA; deafness; Hypertension; maternal inheritance; mitochondrion

Indexed keywords

AMINOGLYCOSIDE ANTIBIOTIC AGENT; GENOMIC DNA; MITOCHONDRIAL DNA; RNA 12S;

ADULT; ARTICLE; BLOOD PRESSURE MEASUREMENT; CHINESE; CLINICAL ARTICLE; DISTORTION PRODUCT OTOACOUSTIC EMISSION; EVOKED BRAIN STEM RESPONSE; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HEARING IMPAIRMENT; HEARING LOSS; HUMAN; HYPERTENSION; MALE; MITOCHONDRION; NUCLEOTIDE SEQUENCE; ONSET AGE; PATHOPHYSIOLOGY; PEDIGREE ANALYSIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PURE TONE AUDIOMETRY; SPHYGMOMANOMETER;

ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; DNA, MITOCHONDRIAL; FEMALE; HEARING LOSS; HUMANS; HYPERTENSION; MALE; MIDDLE AGED; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; PHYLOGENY; RNA, RIBOSOMAL;

EID: 84862778611     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.259     Document Type: Article

References (43)

1. Fischel-Ghodsian N: Mitochondrial deafness mutations reviewed. Hum Mutat 1999; 13: 261-270. (Pubitemid 29307069)
2. Guan MX: Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity. Mitochondrion 2011; 11: 237-245.
3. Prezant TR, Agapian JV, Bohlman MC,et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet 1993; 4: 289-294. (Pubitemid 23205179)
4. Estivill X, Govea N, Barceló A,et al. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides. Am J Hum Genet 1998; 62: 27-35. (Pubitemid 28093831)
5. Lu J, Qian Y, Li Z,et al. Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A4G mutation. Mitochondrion 2010; 10: 69-81.
6. Reid FM, Vernham GA, Jacobs HT: A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum Mutat 1994; 3: 243-247. (Pubitemid 24122242)
7. van den Ouweland JM, Lemkes HH, Ruitenbeek W,et al. Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1992; 1: 368-371.
8. Ballinger SW, Shoffner JM, Hedaya EV,et al. Maternally transmitted diabetes and deafness associated with a 10.4kb mitochondrial DNA deletion. Nat Genet 1992; 1: 11-15.
9. Sevior KB, Hatamochi A, Stewart IA,et al. Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness. Am J Med Genet 1998; 75: 179-185. (Pubitemid 28034496)
10. Wei QP, Zhou X, Yang L,et al. The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss. Biochem Biophys Res Commun 2007; 357: 910-916. (Pubitemid 46693658)
11. Santorelli FM, Tanji K, Manta P,et al. Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation. Am J Hum Genet 1999; 64: 295-300. (Pubitemid 30428984)
12. Nye JS, Hayes EA, Amendola M,et al. Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies. Teratology 2000; 61: 165-171. (Pubitemid 30130819)
13. Zhao H, Li R, Wang Q,et al. Maternally inherited aminoglycoside-induced and nonsyndromic deafness associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. Am J Hum Genet 2004; 74: 139-152. (Pubitemid 38085245)
14. Tiranti V, Chariot P, Carella F,et al. Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene. Hum Mol Genet 1995; 4: 1421-1427.
15. Sue CM, Tanji K, Hadjigeorgiou G,et al. Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNASer(UCN) gene. Neurology 1999; 52: 1905-1908. (Pubitemid 29260910)
16. Tang X, Li R, Zheng J,et al. Maternally inherited hearing loss is associated with the novel mitochondrial tRNASer(UCN) 7505T4C mutation in a Han Chinese family. Mol Genet Metab 2010; 100: 57-64.
17. Yan X, Wang X, Wang Z,et al. Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene. J Med Genet 2011; 48: 682-690.
18. Guan MX, Fischel-Ghodsian N, Attardi G: Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation. Hum Mol Genet 1996; 5: 963-997.
19. Guan MX, Fischel-Ghodsian N, Attardi G: A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity. Hum Mol Genet 2000; 9: 1787-1793. (Pubitemid 30608612)
20. Lu J, Li Z, Zhu Y,et al.Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss. Mitochondrion 2010; 10: 380-390.
21. Tanaka M, Cabrera VM, González AM,et al. Mitochondrial genome variation in eastern Asia and the peopling of Japan. Genome Res 2004; 14: 1832-1850. (Pubitemid 39386497)
22. Guidelines Subcommittee: World Health Organization-International Society of Hypertension Guidelines for the Management of Hypertension. Guidelines Subcommittee. J Hypertens 1999; 17: 151-183.
23. Joint national Committee on Prevention, Detection, Evaluation and Treatment of High Blood pressure: The sixth report of the Joint National Committee on Prevention, Detection, Evaluation and Treatment of High Blood Pressure. Arch Intern Med 1997; 157: 2413-2446.
24. Rieder MJ, Taylor SL, Tobe VO, Nickerson DA: Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome. Nucleic Acids Res 1998; 26: 967-973. (Pubitemid 28291649)
25. Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N: Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 1999; 23: 147. (Pubitemid 29455385)
26. Guan MX, Yan Q, Li X,et al. Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations. Am J Hum Genet 2006; 79: 291-302. (Pubitemid 44141827)
27. Ruiz-Pesini E, Lott MT, Procaccio V,et al. An enhanced MITOMAP with a global mtDNA mutational phylogeny. Nucleic Acids Res 2007; 35: D823-D828. (Pubitemid 46056316)
28. Bibb MJ, Van Etten RA, Wright CT, Walberg MW, Clayton DA: Sequence and gene organization of mouse mitochondrial DNA. Cell 1981; 26: 167-180. (Pubitemid 12244496)
29. Gadaleta G, Pepe G, De Candia G, Quagliariello C, Sbisa E, Saccone C: The complete nucleotide sequence of the Rattus norvegicus mitochondrial genome: cryptic signals revealed by comparative analysis between vertebrates. J Mol Evol 1989; 28: 497-516. (Pubitemid 19156477)
30. Roe A, Ma DP, Wilson RK, Wong JF: The complete nucleotide sequence of the Xenopus laevis mitochondrial genome. J Biol Chem 1985; 260: 9759-9774. (Pubitemid 15013035)
31. Wallace DC: A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine. Annu Rev Genet 2005; 39: 359-407. (Pubitemid 43011120)
32. Bykhovskaya Y, Shohat M, Ehrenman K,et al. Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation. Am J Med Genet 1998; 77: 421-426. (Pubitemid 28283690)
33. Li R, Liu Y, Li Z, Yang L, Wang S, Guan MX: Failures in mitochondrial tRNAMet and tRNAGln metabolism caused by the novel 4401A4G mutation are involved in essential hypertension in a Han Chinese Family. Hypertension 2009; 54: 329-337.
34. Liu Y, Li R, Li Z,et al. The mitochondrial transfer RNAMet 4435A4G mutation is associated with maternally hypertension in a Chinese pedigree. Hypertension 2009; 53: 1083-1090.
35. Wang S, Li R, Fettermann A,et al. Maternally inherited essential hypertension is associated with the novel 4263A4G mutation in the mitochondrial tRNAIle gene in a large Han Chinese family. Circ Res 2011; 108: 862-870.
36. Lu Z, Chen H, Meng Y,et al. The tRNAMet 4435A4G mutation in the mitochondrial haplogroup G2a1 is responsible for maternally inherited hypertension in a Chinese pedigree. Eur J Hum Genet 2011; 19: 1181-1186.
37. Guan MX, Fischel-Ghodsian N, Attardi G: Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation. Hum Mol Genet 2001; 10: 573-580. (Pubitemid 32229361)
38. Archer SL, Marsboom G, Kim GH,et al. Epigenetic attenuation of mitochondrial superoxide dismutase 2 in pulmonary arterial hypertension: a basis for excessive cell proliferation and a new therapeutic target. Circulation 2010; 121: 2661-2671.
39. Djousse L, Driver JA, Gaziano JM: Relation between modifiable lifestyle factors and lifetime risk of heart failure. JAMA 2009; 302: 394-400.
40. Wallace DC: A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine. Annu Rev Genet 2005; 39: 359-407. (Pubitemid 43011120)
41. Arrell DK, Elliott ST, Kane LA,et al. Proteomic analysis of pharmacological preconditioning: novel protein targets converge to mitochondrial metabolism pathways. Circ Res 2006; 99: 706-714. (Pubitemid 44498304)
42. Bernal-Mizrachi C, Gates AC, Weng S,et al. Vascular respiratory uncoupling increases blood pressure and atherosclerosis. Nature 2005; 435: 502-506. (Pubitemid 40734247)
43. Wisløff U, Najjar SM, Ellingsen O,et al. Cardiovascular risk factors emerge after artificial selection for low aerobic capacity. Science 2005; 307: 418-420. (Pubitemid 40139985)