PMID- 25829257
OWN - NLM
STAT- MEDLINE
DCOM- 20160209
LR  - 20150508
IS  - 1872-8057 (Electronic)
IS  - 0303-7207 (Linking)
VI  - 409
DP  - 2015 Jul 5
TI  - Association of AluYb8 insertion/deletion polymorphism in the MUTYH gene with 
      mtDNA maintain in the type 2 diabetes mellitus patients.
PG  - 33-40
LID - S0303-7207(15)00150-1 [pii]
LID - 10.1016/j.mce.2015.03.019 [doi]
AB  - A common AluYb8-element insertion/deletion polymorphism of the MUTYH gene 
      (AluYb8MUTYH) is a novel genetic risk factor for type 2 diabetes mellitus (T2DM). 
      In the present study, mtDNA sequencing analysis indicated that the mtDNA sequence 
      heteroplasmy was not associated with AluYb8MUTYH polymorphism. To better 
      understand the genetic risk for T2DM, we investigated the association of this 
      polymorphism with mtDNA content, mtDNA breakage and mtDNA transcription in the 
      leukocytes of T2DM patients. The mtDNA content and unbroken mtDNA were 
      significantly increased in the mutant patients than in the wild-type patients 
      (P <0.05, respectively). However, no association between mtDNA transcription and 
      AluYb8MUTYH variant was observed. The results suggested that the AluYb8MUTYH 
      variant was associated with an altered mtDNA maintain in T2DM patients. The high 
      level of mtDNA content observed in the mutant patients may have resulted from 
      inefficient base excision repair of mitochondrial MUTYH and a compensatory 
      mechanism that is triggered by elevated oxidative stress.
CI  - Copyright (c) 2015 Elsevier Ireland Ltd. All rights reserved.
FAU - Guo, Wenwen
AU  - Guo W
AD  - Jiangsu Key Laboratory of Molecular Medicine, Nanjing University School of 
      Medicine, No.22 HanKou Road, Nanjing 210093, China; Department of Medical 
      Genetics, Nanjing University School of Medicine, No.22 HanKou Road, Nanjing 
      210093, China; Clinical Molecular Diagnostic Center, Second Hospital, Nanjing 
      Medical University, No.121 Jiangjiayuan Road, Nanjing 210011, China.
FAU - Zheng, Bixia
AU  - Zheng B
AD  - Jiangsu Key Laboratory of Molecular Medicine, Nanjing University School of 
      Medicine, No.22 HanKou Road, Nanjing 210093, China; Department of Medical 
      Genetics, Nanjing University School of Medicine, No.22 HanKou Road, Nanjing 
      210093, China.
FAU - Guo, Dong
AU  - Guo D
AD  - Jiangsu Key Laboratory of Molecular Medicine, Nanjing University School of 
      Medicine, No.22 HanKou Road, Nanjing 210093, China; Department of Medical 
      Genetics, Nanjing University School of Medicine, No.22 HanKou Road, Nanjing 
      210093, China.
FAU - Cai, Zhenming
AU  - Cai Z
AD  - Jiangsu Key Laboratory of Molecular Medicine, Nanjing University School of 
      Medicine, No.22 HanKou Road, Nanjing 210093, China; Department of Medical 
      Genetics, Nanjing University School of Medicine, No.22 HanKou Road, Nanjing 
      210093, China.
FAU - Wang, Yaping
AU  - Wang Y
AD  - Jiangsu Key Laboratory of Molecular Medicine, Nanjing University School of 
      Medicine, No.22 HanKou Road, Nanjing 210093, China; Department of Medical 
      Genetics, Nanjing University School of Medicine, No.22 HanKou Road, Nanjing 
      210093, China. Electronic address: wangyap@nju.edu.cn.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20150327
PL  - Ireland
TA  - Mol Cell Endocrinol
JT  - Molecular and cellular endocrinology
JID - 7500844
RN  - 0 (DNA, Mitochondrial)
RN  - EC 3.2.2.- (DNA Glycosylases)
RN  - EC 3.2.2.- (mutY adenine glycosylase)
SB  - IM
MH  - Adult
MH  - Aged
MH  - *Alu Elements
MH  - DNA Glycosylases/*genetics
MH  - DNA, Mitochondrial/*genetics
MH  - Diabetes Mellitus, Type 2/blood/*genetics
MH  - Female
MH  - Genetic Association Studies
MH  - Humans
MH  - *INDEL Mutation
MH  - Male
MH  - Middle Aged
MH  - Polymorphism, Genetic
MH  - Sequence Analysis, DNA
MH  - Transcription, Genetic
MH  - Young Adult
OTO - NOTNLM
OT  - AluYb8 element
OT  - Base excision repair
OT  - MUTYH
OT  - Type 2 diabetes mellitus
OT  - mtDNA content
OT  - mtDNA maintain
EDAT- 2015/04/02 06:00
MHDA- 2016/02/10 06:00
CRDT- 2015/04/02 06:00
PHST- 2014/12/03 00:00 [received]
PHST- 2015/03/16 00:00 [revised]
PHST- 2015/03/23 00:00 [accepted]
PHST- 2015/04/02 06:00 [entrez]
PHST- 2015/04/02 06:00 [pubmed]
PHST- 2016/02/10 06:00 [medline]
AID - S0303-7207(15)00150-1 [pii]
AID - 10.1016/j.mce.2015.03.019 [doi]
PST - ppublish
SO  - Mol Cell Endocrinol. 2015 Jul 5;409:33-40. doi: 10.1016/j.mce.2015.03.019. Epub 
      2015 Mar 27.