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Mitochondrial D-loop and cytochrome oxidase C subunit I polymorphisms among the breast cancer patients of Mizoram, Northeast India

Ghatak, Souvik LU ; Lallawmzuali, Doris ; Lalmawia ; Sapkota, Ricky ; Zothanpuia ; Pautu, Jeremy L ; Muthukumaran, Rajendra Bose and Senthil Kumar, Nachimuthu (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.

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author
; ; ; ; ; ; and
publishing date
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
2024-01-05 20:11:02
@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 &gt; C, 217T &gt; I, 224-225GG &gt; EE and 227D &gt; 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}},
}