Publication Cover
Mitochondrial DNA
The Journal of DNA Mapping, Sequencing, and Analysis
Volume 26, 2015 - Issue 1
134
Views
6
CrossRef citations to date
0
Altmetric
Short Communications

The role of mitochondrial tRNAPhe C628T variant in deafness expression

, , &
Pages 2-6 | Received 06 Jun 2013, Accepted 04 Jul 2013, Published online: 11 Sep 2013

References

  • 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 30:191–6
  • DiMauro S, Schon EA. (2001). Mitochondrial DNA mutations in human disease. Am J Med Genet 106:18–26
  • Ding Y, Leng J. (2012). Is mitochondrial tRNALeu(UUR) 3291T > C mutation pathogenic? Mitochondrial DNA 23:323–6
  • Ding Y, Leng J, Fan F, Xia B, Xu P. (2013). The role of mitochondrial DNA mutations in hearing loss. Biochem Genet 51:588--602
  • Dowlati MA, Derakhshandeh-Peykar P, Houshmand M, Farhadi M, Shojaei A, Bazzaz JT. (2013). Novel human mitochondrial tRNA phe mutation in a patient with hearing impairment: A case study. Mitochondrial DNA 24:132–6
  • Fischel-Ghodsian N. (2004). Mitochondrial deafness mutations reviewed. Hum Mutat 13:261–70
  • Florentz C, Sohm B, Tryoen-Toth P, Putz J, Sissler M. (2003). Human mitochondrial tRNAs in health and disease. Cell Mol Life Sci 60:1356–75
  • Guan MX. (2011). Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity. Mitochondrion 11:237–45
  • Guan MX, Yan Q, Li X, Bykhovskaya Y, Gallo-Teran J, Hajek P, Umeda N, et al. (2006). 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 79:291–302
  • Helm M, Brulé H, Friede D, Giegé R, Pütz D, Florentz C. (2000). Search for characteristic structural features of mammalian mitochondrial tRNAs. RNA 6:1356–79
  • King MP, Koga Y, Davidson M, Schon EA. (1992). Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Mol Cell Biol 12:480–90
  • Lalwani AK, Gurtler N. (2008). Sensorineural hearing loss, the aging inner ear, and hereditary hearing impairment. Current diagnosis and treatment in otolaryngology, head and neck surgery, 2nd ed. New York: McGraw-Hill. p 683–704
  • Leonard JV, Schapira AH. (2000). Mitochondrial respiratory chain disorders I: Mitochondrial DNA defects. Lancet 355:299–304
  • Lu J, Qian Y, Li Z, Yang A, Zhu Y, Li R, Yang L, et al. (2010). Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A > G mutation. Mitochondrion 10:69–81
  • McFarland R, Elson JL, Taylor RW, Howell N, Turnbull DM. (2004). Assigning pathogenicity to mitochondrial tRNA mutations: When ‘‘definitely maybe’’ is not good enough. Trends Genet 20:591–6
  • Parfait B, Rustin P, Munnich A, Rötig A. (1998). Co-amplification of nuclear pseudogenes and assessment of heteroplasmy of mitochondrial DNA mutations. Biochem Biophys Res Commun 247:57–9
  • Prezant TR, Agapian VJ, Bohlman MC, Bu X, Oztas S, Qiu WQ, Arnos KSet al. (1993). Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet 4:289--94
  • Salas A, Yao YG, Macaulay V, Vega A, Carracedo A, Bandelt HJ. (2005). A critical reassessment of the role of mitochondria in tumorigenesis. PLoS Med 2:e296
  • Sasarman F, Antonicka H, Horvath R, Shoubridge EA. (2011). The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation. Hum Mol Genet 20:4634–43
  • Schon EA, DiMauro S, Hirano M. (2012). Human mitochondrial DNA: Roles of inherited and somatic mutations. Nat Rev Genet 13:878–90
  • Teng L, Zheng J, Leng J, Ding Y. (2012). Clinical and molecular characterization of a Han Chinese family with high penetrance of essential hypertension. Mitochondrial DNA 23:461–5
  • Wallace DC. (2013). A mitochondrial bioenergetic etiology of disease. J Clin Invest 123:1405–12
  • Wallace DC, Stugard C, Murdock D, Schurr T, Brown MD. (1997). Ancient mtDNA sequences in the human nuclear genome: A potential source of errors in identifying pathogenic mutations. Proc Natl Acad Sci U S A 94:14900–5
  • Woischnik M, Moraes CT. (2002). Pattern of organization of human mitochondrial pseudogenes in the nuclear genome. Genome Res 12:885–93
  • Xing G, Chen Z, Cao X. (2007). Mitochondrial rRNA and tRNA and hearing function. Cell Res 17:227–39
  • Yan Q, Bykhovskaya Y, Li R, Mengesha E, Shohat M, Estivill X, Fischel-Ghodsian N, Guan MX. (2006). Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations. Biochem Biophys Res Commun 342:1130–6
  • Yan Q, Li X, Faye G, Guan MX. (2005). Mutations in MTO2 related to tRNA modification impair mitochondrial gene expression and protein synthesis in the presence of a paromomycin resistance mutation in mitochondrial 15 S rRNA. J Biol Chem 280:29151–7
  • Yao YG, Kong QP, Salas A, Bandelt HJ. (2008). Pseudomitochondrial genome haunts disease studies. J Med Genet 45:769–72
  • Yarham JW, Al-Dosary M, Blakely EL, Alston CL, Taylor RW, Elson JL, McFarland R. (2011). A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations. Hum Mutat 32:1319–25
  • Zheng J, Ji Y, Guan MX. (2012). Mitochondrial tRNA mutations associated with deafness. Mitochondrion 12:406–13
  • Zuker M, Stiegler P. (1981). Optimal computer folding of large RNA sequences using thermodynamics and auxiliary information. Nucleic Acids Res 9:133–48

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.