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

Wei Feng Wang, Xin Li, Ming Zhou Guo, Jian De Chen, Yun Sheng Yang, Li Hua Peng, Yong Hua Wang, Chun Yan Zhang, Hui Hui Li

Research output: Contribution to journalArticlepeer-review


AIM: To investigate mitochondrial ATP 6 and 8 polymorphisms in the colon and ileum of patients with irritable bowel syndrome with diarrhea (IBS-D). METHODS: Twenty-eight patients fulfilling the Rome III criteria for IBS-D and 28 healthy subjects were investigated. All study participants underwent screening colonoscopy and mucosal biopsies were obtained from the colon and/or terminal ileum. Genomic DNA was extracted from specimens based on standard protocols. Mitochondrial ATP (MT-ATP) 6 and 8 genes in specimens were polymerase chain reaction amplified and sequenced. Sequencing data were analyzed via Variant Reporter™ Software and compared with the reference sequence from Genbank (accession No. NC_012920) to indicate possible polymorphisms. The protocol was registered at as NCT01028898. RESULTS: Twenty-five polymorphic sites of MT-ATP 6 and 8 genes were detected and 12 of them were missense mutations. A median of two polymorphic sites in MT-ATP genes was found in colon specimens of controls while a median of three polymorphic sites was noted in patients with IBS-D (Mann-Whitney test, P = 0.012). The variants of the colon and ileum specimens from the same subjects were identical in all but one case. Symptom duration in IBS was not found to be a significant factor associated with the mtDNA polymorphism (Spearman correlation, P = 0.592). The mitochondrial DNA change at 8860 was present in all cases of both groups. The frequency of the 8701 polymorphism was found to be the second most frequent; however, no statistical difference was noted between the groups (χ2 test, P = 0.584). CONCLUSION: Patients with IBS-D have a higher incidence of MT-ATP 6 and 8 polymorphisms than healthy subjects, implying that the mtDNA polymorphism may play a role in IBS-D.

Original languageEnglish (US)
Pages (from-to)3847-3853
Number of pages7
JournalWorld Journal of Gastroenterology
Issue number24
StatePublished - Jun 24 2013
Externally publishedYes


  • Diarrhea
  • Irritable bowel syndrome
  • Mitochondrial ATP 6 gene
  • Mitochondrial ATP 8 gene
  • Polymorphism

ASJC Scopus subject areas

  • Gastroenterology


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