Clinical and molecular characterization of a Han Chinese family with high penetrance of essential hypertension

Mitochondrial DNA

Volumn 23, Issue 6, 2012, Pages 461-465

  Teng, Lili ^a   Zheng, Jing ^b   Leng, Jianhang ^c   Ding, Yu ^c  

^a TONGJI UNIVERSITY   (China)

^b Zhejiang University   (China)

^c NANJING MEDICAL UNIVERSITY   (China)

Author keywords

Chinese family; Hypertension; Mitochondrial DNA mutation; TRNA metabolism

Indexed keywords

LEUCINE TRANSFER RNA; MESSENGER RNA; METHIONINE; MITOCHONDRIAL DNA;

3' UNTRANSLATED REGION; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; ASIA; BASE PAIRING; CHINESE; CLINICAL ARTICLE; CLINICAL FEATURE; ESSENTIAL HYPERTENSION; FAMILIAL DISEASE; FEMALE; GC RICH SEQUENCE; GENE; GENE LOCATION; GENE MUTATION; GENETIC CONSERVATION; GENETIC POLYMORPHISM; HAPLOTYPE; HUMAN; MALE; MITOCHONDRIAL GENOME; ND5 GENE; NUCLEOTIDE SEQUENCE; PENETRANCE; PRIORITY JOURNAL; RNA METABOLISM; RNA STABILITY; SEQUENCE ANALYSIS; START CODON;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPERTENSION; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PENETRANCE; RNA, TRANSFER, LEU; SEQUENCE HOMOLOGY;

EID: 84870928846     PISSN: 19401736     EISSN: 19401744     Source Type: Journal    
DOI: 10.3109/19401736.2012.710205     Document Type: Article

References (23)

1. Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N. 1999. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23:147.
2. Arrell DK, Elliott ST, Kane LA, Guo Y, Ko YH, Pedersen PL, Robinson J, Murata M, Murphy AM, Marban E, Van Eyk JE. 2006. Proteomic analysis of pharmacological preconditioning: Novel protein targets converge to mitochondrial metabolism pathways. Circ Res 99:706-714.
3. Bandelt HJ, Salas A, Taylor RW, Yao YG. 2009. Exaggerated status of "novel" and "pathogenic" mtDNA sequence variants due to inadequate database searches. Hum Mutat 30:191-196.
4. Banegas JR, Segura J, Ruilope LM, Luque M, García-Robles R, Campo C, Rodríguez-Artalejo F, Tamargo J, CLUE Study Group Investigators. 2004. Blood pressure control and physician management of hypertension in hospital hypertension units in Spain. Hypertension 6:1338-1344.
5. Bernal-Mizrachi C, Gates AC, Weng S, Imamura T, Knutsen RH, DeSantis P, Coleman T, Townsend RR, Muglia LJ, Semenkovich CF. 2005. Vascular respiratory uncoupling increases blood pressure and atherosclerosis. Nature 435: 502-506.
6. Bibb MJ, Van Etten RA, Wright CT, Walberg MW, Clayton DA. 1981. Sequence and gene organization of mouse mitochondrial DNA. Cell 26:167-180.
7. Brandão AP, Brandão AA, Araújo EM, Oliveira RC. 1992. Familial aggregation of arterial blood pressure and possible genetic influence. Hypertension 19:II214-II217.
8. Chan SH, Wu KL, Chang AY, Tai MH, Chan JY. 2009. Oxidative impairment of mitochondrial electron transport chain complexes in rostral ventrolateral medulla contributes to neurogenic hypertension. Hypertension 53:217-227.
9. Chen B, Sun D, Yang L, Zhang C, Yang A, Zhu Y, Zhao J, Chen Y, Guan M, Wang X, Li R, TangX, Wang J, TaoZ, Lu J, Guan MX. 2008. Mitochondrial ND5 T12, 338C, tRNA(Cys) T5802C, and tRNA(Thr) G15, 927Avariants may have a modifying role in the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese pedigrees. Am J Med Genet A 146:1248-1258.
10. Florentz C, Sohm B, Tryoen-Tóth P, Pütz J, Sissler M. 2003. Human mitochondrial tRNAs in health and disease. Cell Mol Life Sci 60:1356-1375.
11. Gadaleta G, Pepe G, De Candia G, Quagliariello C, Sbisà E, Saccone C. 1989. The complete nucleotide sequence of the Rattus norvegicus mitochondrial genome: Cryptic signals revealed by comparative analysis between vertebrates. J Mol Evol 28:497-516.
12. Gu D, Reynolds K, Wu X, Chen J, Duan X, Muntner P, Huang G, Reynolds RF, Su S, Whelton PK, He J. 2002. Prevalence, awareness, treatment, and control of hypertension in China. Hypertension 40:920-927.
13. Kong QP, Bandelt HJ, Sun C, Yao YG, Salas A, Achilli A, Wang CY, Zhong L, Zhu CL, Wu SF, Torroni A, Zhang YP. 2006. Updating the East Asian mtDNA phylogeny: A prerequisite for the identification of pathogenic mutations. Hum Mol Genet 15: 2076-2086.
14. Li R, Liu Y, Li Z, Yang L, Wang S, Guan MX. 2009. Failures in mitochondrial tRNAMet and tRNAGln metabolism causedby the novel 4401A. G mutation are involved in essential hypertension in a Han Chinese Family. Hypertension 54:329-337.
15. Li Z, Liu Y, Yang L, Wang S, Guan MX. 2008. Maternally inherited hypertension is associated with the mitochondrial tRNA (Ile) A4295G mutation in a Chinese family. Biochem Biophys Res Commun 367:906-911.
16. Liu XL, Zhou X, Zhou J, Zhao F, Zhang J, Li C, Ji Y, Zhang Y, Wei QP, Sun YH, Yang L, Lin B, Yuan Y, Li Y, Qu J, Guan MX. 2011. Leber's hereditary optic neuropathy is associated with the T12, 338C mutation in mitochondrial ND5 gene in six Han Chinese families. Ophthalmology 118:978-985.
17. Liu Y, Li R, Li Z, Wang XJ, Yang L, Wang S, Guan MX. 2009. Mitochondrial transfer RNAMet 4435A. G mutation is associated with maternally inherited hypertension in a Chinese pedigree. Hypertension 53:1083-1090.
18. Redón J, Oliva MR, Tormos C, Giner V, Chaves J, Iradi A, Sáez GT. 2003. Antioxidant activities and oxidative stress byproducts in human hypertension. Hypertension 41:1096-1101.
19. Rieder MJ, Taylor SL, Tobe VO, Nickerson DA. 1998. Automating the identification of DNA variations using quality-based fluorescence re-sequencing: Analysis of the human mitochon-drial genome. Nucl Acids Res 26:967-973.
20. Roe BA, Ma DP, Wilson RK, Wong JF. 1985. The complete nucleotide sequence of the Xenopus laevis mitochondrial genome. J Biol Chem 260:9759-9774.
21. Romero JC, Reckelhoff JF, State-of-the-Art lecture. 1999. Role of angiotensin and oxidative stress in essential hypertension. Hypertension 34:943-949.
22. Wallace DC. 2000. Mitochondrial defects in cardiomyopathy and neuromuscular disease. Am Heart J 139:S70-S85.
23. Wang S, Li R, Fettermann A, Li Z, Qian Y, Liu Y, Wang X, Zhou A, Mo JQ, Yang L, Jiang P, Taschner A, Rossmanith W, Guan MX. 2011. Maternally inherited essential hypertension is associated with the novel 4263A. G mutation in the mitochondrial tRNAIle gene in a large Han Chinese family. Circ Res 108: 862-870.