Mitochondrial D-loop and cytochrome oxidase C subunit I polymorphisms among the breast cancer patients of Mizoram, Northeast India
(2014) In Current Genetics 60(3). p.12-201- Abstract
Mitochondrial DNA (mtDNA) is known for its high frequencies of polymorphisms and mutations as it is prone to oxidative stress. The aim of the present study is to assess the novel mutations in mitochondrial genes from blood samples among the breast cancer patients from a less studied Northeast Indian population. D, B, L haplogroups were observed in the cancer samples and a total of 44 mtDNA D-loop sequence variations at 42 distinct nucleotide positions were found. All the sequence variations were transitional substitutions and 6 were heteroplasmic states, except for a cytosine copy number change (9C/8C) at np 303e309 in three samples examined. A total of 88 Cytochrome Oxidase C subunit I (COXI) sequence differences with respect to the... (More)
Mitochondrial DNA (mtDNA) is known for its high frequencies of polymorphisms and mutations as it is prone to oxidative stress. The aim of the present study is to assess the novel mutations in mitochondrial genes from blood samples among the breast cancer patients from a less studied Northeast Indian population. D, B, L haplogroups were observed in the cancer samples and a total of 44 mtDNA D-loop sequence variations at 42 distinct nucleotide positions were found. All the sequence variations were transitional substitutions and 6 were heteroplasmic states, except for a cytosine copy number change (9C/8C) at np 303e309 in three samples examined. A total of 88 Cytochrome Oxidase C subunit I (COXI) sequence differences with respect to the Revised Cambridge Reference Sequence (rCRS) were identified including 20 missense variants with 100 % sample mutation frequency. All 20 missense mutations are highly conserved with a Cumulate Index of 100 %. Among 88 COXI mutations, 24 (13 were Non-Synonymous and 11 were Synonymous) were not previously reported (novel mutation) in the literature or the public mtDNA mutation databases. Analysis of three-dimensional structure of COXI open reading frame (ORF) predicted the effect of one single codon (96R > C, 217T > I, 224-225GG > EE and 227D > T) mutations located in the signal peptide binding position. Analysis of mitochondrial DNA mutations, as a viable alternative, has the advantage of being capable of detecting inherent risk factors for breast cancer development.
(Less)
- author
- Ghatak, Souvik LU ; Lallawmzuali, Doris ; Lalmawia ; Sapkota, Ricky ; Zothanpuia ; Pautu, Jeremy L ; Muthukumaran, Rajendra Bose and Senthil Kumar, Nachimuthu
- publishing date
- 2014
- type
- Contribution to journal
- publication status
- published
- keywords
- Adult, Biomarkers, Tumor/genetics, Breast Neoplasms/genetics, Case-Control Studies, Cluster Analysis, DNA, Mitochondrial/genetics, Electron Transport Complex IV/chemistry, Female, Gene Frequency, Haplotypes, Humans, India, Middle Aged, Models, Molecular, Mutation, Phylogeny, Polymorphism, Genetic, Protein Structure, Secondary, Risk Factors
- in
- Current Genetics
- volume
- 60
- issue
- 3
- pages
- 12 - 201
- publisher
- Springer
- external identifiers
-
- pmid:24719079
- scopus:84905126391
- ISSN
- 0172-8083
- DOI
- 10.1007/s00294-014-0425-2
- language
- English
- LU publication?
- no
- id
- 5fb60853-b593-478b-b2c3-b91ede871590
- date added to LUP
- 2021-11-10 09:50:02
- date last changed
- 2024-10-06 09:04:53
@article{5fb60853-b593-478b-b2c3-b91ede871590,
abstract = {{<p>Mitochondrial DNA (mtDNA) is known for its high frequencies of polymorphisms and mutations as it is prone to oxidative stress. The aim of the present study is to assess the novel mutations in mitochondrial genes from blood samples among the breast cancer patients from a less studied Northeast Indian population. D, B, L haplogroups were observed in the cancer samples and a total of 44 mtDNA D-loop sequence variations at 42 distinct nucleotide positions were found. All the sequence variations were transitional substitutions and 6 were heteroplasmic states, except for a cytosine copy number change (9C/8C) at np 303e309 in three samples examined. A total of 88 Cytochrome Oxidase C subunit I (COXI) sequence differences with respect to the Revised Cambridge Reference Sequence (rCRS) were identified including 20 missense variants with 100 % sample mutation frequency. All 20 missense mutations are highly conserved with a Cumulate Index of 100 %. Among 88 COXI mutations, 24 (13 were Non-Synonymous and 11 were Synonymous) were not previously reported (novel mutation) in the literature or the public mtDNA mutation databases. Analysis of three-dimensional structure of COXI open reading frame (ORF) predicted the effect of one single codon (96R > C, 217T > I, 224-225GG > EE and 227D > T) mutations located in the signal peptide binding position. Analysis of mitochondrial DNA mutations, as a viable alternative, has the advantage of being capable of detecting inherent risk factors for breast cancer development.</p>}},
author = {{Ghatak, Souvik and Lallawmzuali, Doris and Lalmawia and Sapkota, Ricky and Zothanpuia and Pautu, Jeremy L and Muthukumaran, Rajendra Bose and Senthil Kumar, Nachimuthu}},
issn = {{0172-8083}},
keywords = {{Adult; Biomarkers, Tumor/genetics; Breast Neoplasms/genetics; Case-Control Studies; Cluster Analysis; DNA, Mitochondrial/genetics; Electron Transport Complex IV/chemistry; Female; Gene Frequency; Haplotypes; Humans; India; Middle Aged; Models, Molecular; Mutation; Phylogeny; Polymorphism, Genetic; Protein Structure, Secondary; Risk Factors}},
language = {{eng}},
number = {{3}},
pages = {{12--201}},
publisher = {{Springer}},
series = {{Current Genetics}},
title = {{Mitochondrial D-loop and cytochrome oxidase C subunit I polymorphisms among the breast cancer patients of Mizoram, Northeast India}},
url = {{http://dx.doi.org/10.1007/s00294-014-0425-2}},
doi = {{10.1007/s00294-014-0425-2}},
volume = {{60}},
year = {{2014}},
}