THE MITOCHONDRIAL TRNAGLY T10003C MUTATION MAY NOT BE ASSOCIATED WITH DIABETES MELLITUS
Yuan Q, Zhao ZG, Yuan HJ
*Corresponding Author: Dr. Qian Yuan, Endocrinology and Metabolism Department, People’s Hospital of Zhengzhou University, Zhengzhou, P. R. China. Phone/Fax: +86-0371-65580014 E-mail: yuanqian001@126.com
page: 6
download article in pdf format

Abstract

Mitochondrial genome mutations have been recognized as more and more important factor in the pathogenesis of type 2 diabetes mellitus (T2DM). A large proportion of these mutations are localized at mt-tRNA genes. Owing to its high mutation rate, a growing number of mt-tRNA mutations have been reported; however, some of them are neutral genetic polymorphisms and therefore, will not result in the alternation of mitochondrial function which is responsible for DM. In this study, we reassessed a recent reported “pathogenic” mutation: tRNAGly T10003C, in clinical manifestation of DM. We first performed the evolutionary conservation assessment for the T10003C mutation between various species. Moreover, the bioinformatics analysis was used to predict the changes in tRNA structure between the wild type and the mutant T10003C variant. We also screened the presence of the T10003C mutation in 500 unrelated DM patients and 300 healthy controls. We noticed that the T10003C mutation was not very conserved and did not cause the secondary structure change of mt-tRNAGly. Moreover, this mutation was absent in the 500 unrelated DM and 300 controls, suggesting that this mutation may be a rare event in human population. In conclusion, the current study showed no association between T10003C mutation and DM. DNA (mtDNA) pathogenic mutations seems important for both clinical physician and genetic scientists. In the current investigation, we evaluated the association between a recent reported mt-tRNAGly T10003C mutation and DM. First of all, we performed a database searches for the frequency of this mutation; second, we reassessed the conservation index (CI) of the T10003C mutation, finally, we performed a case-control study to screen this mutation in a cohort of 500 unrelated DM patients and 300 healthy individuals.



Number 21
VOL. 21(1), 2018 Accepted articles (Accepted, unedited articles, published online and can be cited. The final edited and printed version of the manuscript will appear in future)
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

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006