Wang WF, Li X, Guo MZ, Chen JD, Yang YS, Peng LH, Wang YH, Zhang CY, Li HH. Mitochondrial ATP 6 and 8 polymorphisms in irritable bowel syndrome with diarrhea. World J Gastroenterol 2013; 19(24): 3847-3853 [PMID: 23840124 DOI: 10.3748/wjg.v19.i24.3847]
Corresponding Author of This Article
Yun-Sheng Yang, MD, Director, Department of Gastroenterology and Hepatology, Chinese PLA General Hospital, 28 Fuxing Road, Beijing 100853, China. sunny888@medmail.com.cn
Research Domain of This Article
Gastroenterology & Hepatology
Article-Type of This Article
Brief Article
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Table 2 Summary of mitochondrial DNA mutations in the ATP 6 and 8 genes
Nucleotide position
Base change (N>T)
mtDNA region
Amino acid change
8392
G>A
ATP8
syn
8394
C>T
ATP8
Missense
8414
C>T
ATP8
Missense
8459
A>G
ATP8
Missense
8473
T>C
ATP8
syn
8563
A>G
ATP8 and ATP6
ATP6: missense;ATP8: syn
8584
G>A
ATP6
Missense
8684
C>T
ATP6
Missense
8697
G>A
ATP6
syn
8701
A>G
ATP6
Missense
8705
T>C
ATP6
Missense
8727
C>T
ATP6
syn
8772
T>C
ATP6
syn
8784
A>G
ATP6
syn
8793
T>C
ATP6
syn
8794
C>T
ATP6
Missense
8829
C>T
ATP6
syn
8856
G>A
ATP6
syn
8860
A>G
ATP6
Missense
8943
C>T
ATP6
syn
8994
G>A
ATP6
syn
9053
G>A
ATP6
Missense
9123
G>A
ATP6
syn
9128
T>C
ATP6
Missense
9180
A>G
ATP6
syn
Table 3 Mitochondrial DNA changes in the colon from controls
Case
Nucleotide position
8392
8394
8414
8473
8563
8584
8701
8705
8727
8794
8860
8994
9053
9180
Missense
Sum
1
+
+
2
2
2
+
+
+
2
3
3
+
+
2
2
4
+
+
2
2
5
+
1
1
6
+
+
2
2
7
+
+
+
3
3
8
+
1
1
9
+
+
+
3
3
10
+
1
1
11
+
+
2
2
12
+
+
+
3
3
13
+
+
2
2
14
+
+
+
3
3
15
+
+
2
2
16
+
+
+
2
3
17
+
+
2
2
18
+
+
+
3
3
19
+
+
+
2
3
20
+
+
2
2
21
+
+
+
3
3
22
+
+
+
2
3
23
+
1
1
24
+
+
1
2
25
+
1
1
26
+
+
+
2
3
27
+
+
+
3
3
28
+
1
1
Table 4 Mitochondrial DNA changes in the colon from irritable bowel syndrome group
Case
Nucleotide position
8392
8414
8459
8473
8563
8584
8684
8697
8701
8772
8784
8793
8794
8829
8856
8860
8943
9123
9128
9180
Missense
Sum
IBS1
+
1
1
IBS2
+
+
+
3
3
IBS3
+
+
1
2
IBS4
+
1
1
IBS5
+
+
+
3
3
IBS6
+
+
+
3
3
IBS7
+
+
+
+
4
4
IBS8
+
+
1
2
IBS9
+
+
1
2
IBS10
+
+
+
+
2
4
IBS11
+
+
+
2
3
IBS12
+
+
+
2
3
IBS13
+
+
+
+
3
4
IBS14
+
+
+
+
3
4
IBS15
+
+
+
+
2
4
IBS16
+
+
+
+
2
4
IBS17
+
+
2
2
IBS18
+
+
+
+
3
4
IBS19
+
+
+
3
3
IBS20
+
+
+
2
3
IBS21
+
+
2
2
IBS22
+
+
2
2
IBS23
+
+
+
+
3
4
IBS24
+
+
+
+
4
4
IBS25
+
+
2
2
IBS26
+
+
1
2
IBS27
+
+
2
2
IBS28
+
+
+
+
3
4
Table 5 Mitochondrial DNA changes in terminal ileum from irritable bowel syndrome group
Case
Nucleotide position
8414
8459
8473
8563
8584
8684
8697
8701
8772
8794
8860
Sum
IBS1
+
1
IBS2
+
+
+
3
IBS3
+
+
2
IBS5
+
+
+
3
IBS7
+
+
+
+
4
IBS17
+
+
2
IBS18
+
+
+
+
4
IBS19
+
+
+
3
IBS21
+
+
2
IBS22
+
+
2
Citation: Wang WF, Li X, Guo MZ, Chen JD, Yang YS, Peng LH, Wang YH, Zhang CY, Li HH. Mitochondrial ATP 6 and 8 polymorphisms in irritable bowel syndrome with diarrhea. World J Gastroenterol 2013; 19(24): 3847-3853