
THE MITOCHONDRIAL tRNAGly T10003C MUTATION
MAY NOT BE ASSOCIATED WITH DIABETES MELLITUS Yuan Q, Zhao ZG, Yuan HJ *Corresponding Author: Dr. Qian Yuan, Department of Endocrinology and Metabolism, People’s Hospital of Zhengzhou
University, Weiwu Road 7, Zhengzhou, Henan Province, People’s Republic of China. Tel/Fax: +86-0371-6558-0014. E-mail:
yuanqian001@126.com page: 53
|
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.
|
|
|
|



 |
Number 27 VOL. 27 (2), 2024 |
Number 27 VOL. 27 (1), 2024 |
Number 26 Number 26 VOL. 26(2), 2023 All in one |
Number 26 VOL. 26(2), 2023 |
Number 26 VOL. 26, 2023 Supplement |
Number 26 VOL. 26(1), 2023 |
Number 25 VOL. 25(2), 2022 |
Number 25 VOL. 25 (1), 2022 |
Number 24 VOL. 24(2), 2021 |
Number 24 VOL. 24(1), 2021 |
Number 23 VOL. 23(2), 2020 |
Number 22 VOL. 22(2), 2019 |
Number 22 VOL. 22(1), 2019 |
Number 22 VOL. 22, 2019 Supplement |
Number 21 VOL. 21(2), 2018 |
Number 21 VOL. 21 (1), 2018 |
Number 21 VOL. 21, 2018 Supplement |
Number 20 VOL. 20 (2), 2017 |
Number 20 VOL. 20 (1), 2017 |
Number 19 VOL. 19 (2), 2016 |
Number 19 VOL. 19 (1), 2016 |
Number 18 VOL. 18 (2), 2015 |
Number 18 VOL. 18 (1), 2015 |
Number 17 VOL. 17 (2), 2014 |
Number 17 VOL. 17 (1), 2014 |
Number 16 VOL. 16 (2), 2013 |
Number 16 VOL. 16 (1), 2013 |
Number 15 VOL. 15 (2), 2012 |
Number 15 VOL. 15, 2012 Supplement |
Number 15 Vol. 15 (1), 2012 |
Number 14 14 - Vol. 14 (2), 2011 |
Number 14 The 9th Balkan Congress of Medical Genetics |
Number 14 14 - Vol. 14 (1), 2011 |
Number 13 Vol. 13 (2), 2010 |
Number 13 Vol.13 (1), 2010 |
Number 12 Vol.12 (2), 2009 |
Number 12 Vol.12 (1), 2009 |
Number 11 Vol.11 (2),2008 |
Number 11 Vol.11 (1),2008 |
Number 10 Vol.10 (2), 2007 |
Number 10 10 (1),2007 |
Number 9 1&2, 2006 |
Number 9 3&4, 2006 |
Number 8 1&2, 2005 |
Number 8 3&4, 2004 |
Number 7 1&2, 2004 |
Number 6 3&4, 2003 |
Number 6 1&2, 2003 |
Number 5 3&4, 2002 |
Number 5 1&2, 2002 |
Number 4 Vol.3 (4), 2000 |
Number 4 Vol.2 (4), 1999 |
Number 4 Vol.1 (4), 1998 |
Number 4 3&4, 2001 |
Number 4 1&2, 2001 |
Number 3 Vol.3 (3), 2000 |
Number 3 Vol.2 (3), 1999 |
Number 3 Vol.1 (3), 1998 |
Number 2 Vol.3(2), 2000 |
Number 2 Vol.1 (2), 1998 |
Number 2 Vol.2 (2), 1999 |
Number 1 Vol.3 (1), 2000 |
Number 1 Vol.2 (1), 1999 |
Number 1 Vol.1 (1), 1998 |
|
|