Alterations of the MT-ATP8 Gene and 9-bp Deletion in Vietnamese Patients with Breast Cancer
p. 38-47
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2018
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oai:112.137.131.14:VNU_123-616302018-04-26T20:11:31Z Alterations of the MT-ATP8 Gene and 9-bp Deletion in Vietnamese Patients with Breast Cancer Biến đổi của gen MT-ATP8 ty thể và mất đoạn 9 bp trên bệnh nhân ung thư vú ở Việt Nam Nguyen, Thi Tu Linh Nguyen, Thi Thao Do, Thi Dung Trinh, Hong Thai Breast cancer mitochondrial DNA MT-ATP8 p. 38-47 The MT-ATP8 gene encodes for A6L protein subunit belonging to the proton channel of the ATP synthase. MT-ATP8 gene’s mutations can affect the structure and function of the ATP synthase, which may cause diseases. In this study, alterations of MT-ATP8 gene were investigated in tumor tissues of patients with breast cancer and control blood samples using PCR combined with direct sequencing and PCR-RFLP methods, data were analyzed using bioinformatics tools and statistical methods. Sequencing results revealed 5 variants of MT-ATP8 gene on 35 breast tumor tissues and 26 blood samples of controls, of which two mutations C8414T and C8417T altered the amino acid sequence of the resulting protein. The C8417T was further screened by PCR-RFLP and was found in 0,98% (1/102) of breast tumor samples. This change lead to substitution of lecine to phenylalanine (L18F) in a highly conserved position of A6L and was predicted as probably damaging to the structure and function of the protein. Additionally, a 9 bp deletion was also observed in a non-coding region of mtDNA in 26,5% (27/102) of breast cancer patients and 27% (7/26) of controls. Thus, these results showed that C8417T variant in the conserved position of MT-ATP8 gene was rare and first identified in a group of breast cancer patients in Vietnam. 2018-04-24T03:04:35Z 2018-04-24T03:04:35Z 2018 Article 2588-1140 http://repository.vnu.edu.vn/handle/VNU_123/61630 other Vol 34;No 1 application/pdf H. : ĐHQGHN |
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Vietnam National University, Hanoi |
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VNU Library & Information Center |
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Vietnam |
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VNU Digital Repository |
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other |
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Breast cancer mitochondrial DNA MT-ATP8 |
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Breast cancer mitochondrial DNA MT-ATP8 Nguyen, Thi Tu Linh Nguyen, Thi Thao Do, Thi Dung Trinh, Hong Thai Alterations of the MT-ATP8 Gene and 9-bp Deletion in Vietnamese Patients with Breast Cancer |
| description |
p. 38-47 |
| format |
Article |
| author |
Nguyen, Thi Tu Linh Nguyen, Thi Thao Do, Thi Dung Trinh, Hong Thai |
| author_facet |
Nguyen, Thi Tu Linh Nguyen, Thi Thao Do, Thi Dung Trinh, Hong Thai |
| author_sort |
Nguyen, Thi Tu Linh |
| title |
Alterations of the MT-ATP8 Gene and 9-bp Deletion in Vietnamese Patients with Breast Cancer |
| title_short |
Alterations of the MT-ATP8 Gene and 9-bp Deletion in Vietnamese Patients with Breast Cancer |
| title_full |
Alterations of the MT-ATP8 Gene and 9-bp Deletion in Vietnamese Patients with Breast Cancer |
| title_fullStr |
Alterations of the MT-ATP8 Gene and 9-bp Deletion in Vietnamese Patients with Breast Cancer |
| title_full_unstemmed |
Alterations of the MT-ATP8 Gene and 9-bp Deletion in Vietnamese Patients with Breast Cancer |
| title_sort |
alterations of the mt-atp8 gene and 9-bp deletion in vietnamese patients with breast cancer |
| publisher |
H. : ĐHQGHN |
| publishDate |
2018 |
| url |
http://repository.vnu.edu.vn/handle/VNU_123/61630 |
| _version_ |
1680964722096078848 |