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The mitochondrial tRNAGly T10003C mutation may not be associated with diabetes mellitus Cover

The mitochondrial tRNAGly T10003C mutation may not be associated with diabetes mellitus

By: Q Yuan,  ZG Zhao and  HJ Yuan  
Open Access
|Oct 2018

References

  1. Šeruga M, Makuc J, Završnik M, Cilenšek I, Ekart R, Petrovič D. Polymorphism of angiotensin-converting enzyme (rs4340) and diabetic nephropathy in Caucasians with type 2 diabetes mellitus. Balkan J Med Genet. 2017; 19(2): 29-34.
  2. Popović D, Nikolajević Starčević J, Šantl Letonja M, Makuc J, Cokan Vujkovac A, Reschner H, et al. PECAM-1 gene polymorphism (rs668) and subclinical markers of carotid atherosclerosis in patients with type 2 diabetes mellitus. Balkan J Med Genet. 2016; 19(1): 63-70.
  3. Lu J, Wang D, Li R, Li W, Ji J, Zhao J, et al. Maternally transmitted diabetes mellitus associated with the mitochondrial tRNA(Leu(UUR)) A3243G mutation in a four-generation Han Chinese family. Biochem Biophys Res Commun. 2006; 348(1): 115-119.
  4. Naing A, Kenchaiah M, Krishnan B, Mir F, Charnley A, Egan C, et al. Maternally inherited diabetes and deafness (MIDD): Diagnosis and management. J Diabetes Complications. 2014; 28(4): 542-546.
  5. Tsukuda K, Suzuki Y, Kameoka K, Osawa N, Goto Y, Katagiri H, et al. Screening of patients with maternally transmitted diabetes for mitochondrial gene mutations in the tRNA[Leu(UUR)] region. Diabet Med. 1997; 14(12): 1032-1037.
  6. Suzuki Y, Suzuki S, Hinokio Y, Chiba M, Atsumi Y, Hosokawa K, et al. Diabetes associated with a novel 3264 mitochondrial tRNA(Leu)(UUR) mutation. Diabetes Care. 1997; 20(7): 1138-1140.
  7. Leonard JV, Schapira AH. Mitochondrial respiratory chain disorders I: Mitochondrial DNA defects. Lancet. 2000; 355(9200): 299-304.
  8. DiMauro S, Schon EA. Mitochondrial DNA mutations in human disease. Am J Med Genet. 2001; 106(1): 18-26.
  9. Zhu Q, Zhou Y, Jin X, Lin X. The role of mitochondrial tRNAPhe C628T variant in deafness expression. Mitochondrial DNA. 2015; 26(1): 2-6.
  10. Helm M, Brulé H, Friede D, Giegé R, Pütz D, Florentz C. Search for characteristic structural features of mammalian mitochondrial tRNAs. RNA. 2000; 6(10): 1356-1379.
  11. van Oven M, Kayser M. Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation. Hum Mutat. 2009; 30(2): E386-394.
  12. Gruber AR, Lorenz R, Bernhart SH, Neuböck R, Hofacker IL. The Vienna RNA Website. Nucleic Acids Res. 2008; 36(Web Server issue): W70-W74.
  13. American Diabetes Association. Diagnosis and classification of diabetes mellitus. Diabetes Care. 2011; 34(Suppl 1): S62-S71.
  14. Andrews RM, Kubacka I, Chinnery PF, Light-owlers RN, Turnbull DM, Howell N. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet. 1999; 23(2):147.
  15. Li W, Wen C, Li W, Wang H, Guan X, Zhang W, et al. The tRNA(Gly) T10003C mutation in mitochondrial haplogroup M11b in a Chinese family with diabetes decreases the steady-state level of tRNA(Gly), increases aberrant reactive oxygen species production, and reduces mitochondrial membrane potential. Mol Cell Biochem. 2015; 408(1-2): 171-179.
  16. Liu H, Li R, Li W, Wang M, Ji J, Zheng J, et al. Maternally inherited diabetes is associated with a homoplasmic T10003C mutation in the mitochondrial tRNA(Gly) gene. Mitochondrion. 2015; 21: 49-57.
  17. Wittenhagen LM, Kelley SO. Dimerization of a pathogenic human mitochondrial tRNA. Nat Struct Biol. 2002; 9(8): 586-590.
  18. Janssen GM, Maassen JA, van Den Ouweland JM. The diabetes-associated 3243 mutation in the mitochondrial tRNA(Leu(UUR)) gene causes severe mitochondrial dysfunction without a strong decrease in protein synthesis rate. J Biol Chem. 1999; 274(42): 29744-29748.
  19. Yarham JW, Al-Dosary M, Blakely EL, Alston CL, Taylor RW, Elson JL, et al. A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations. Hum Mutat. 2011; 32(11): 1319-1325.
  20. Yoon KL, Aprille JR, Ernst SG. Mitochondrial tRNA(thr) mutation in fatal infantile respiratory enzyme deficiency. Biochem Biophys Res Commun. 1991; 173(6): 1112-1115.
  21. Zhao L, Young WY, Li R, Wang Q, Qian Y, Guan MX. Clinical evaluation and sequence analysis of the complete mitochondrial genome of three Chinese patients with hearing impairment associated with the 12S rRNA T1095C mutation. Biochem Biophys Res Commun. 2004; 325(4): 1503-1508.
  22. Zhu Y, Gu X, Xu C. A Mitochondrial DNA A8701G mutation associated with maternally inherited hypertension and dilated cardiomyopathy in a Chinese pedigree of a consanguineous marriage. Chin Med J (Engl). 2016; 129(3): 259-266.
Language: English
Page range: 53 - 57
Published on: Oct 29, 2018
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year

© 2018 Q Yuan, ZG Zhao, HJ Yuan, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.