Mitochondrial ATP 6 and 8 polymorphisms in irritable bowel syndrome with diarrhea

Table 1 Demographic data and clinical profile of the participants

	Control (n = 28)	IBS (n = 28)	P value
Age (yr)	43.6 ± 1.9	41.6 ± 2.2	> 0.051
Gender (male:female)	22:6	18:10	> 0.052
Disease duration (yr)	N/A	3.6 ± 0.6	N/A

¹P values were obtained using t test (t = -0.682, df = 54, P = 0.498);

²Pearson's χ² test (χ² = 1.400, df = 1, P = 0.237) between the control and patients with irritable bowel syndrome (IBS). Values expressed as mean ± SE. N/A: Not available.

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

mtDNA: Mitochondrial DNA; syn: Synonymous; N: Sequence obtained from National Center for Biotechnology Information genbank; T: Mutated sequence in the specimens; A: Adenine; T: Thymine; G: Guanine; C: Cytosine.

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

IBS: Irritable bowel syndrome.

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

IBS: Irritable bowel syndrome.