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Mitochondrial mutations in adenoid cystic carcinoma of the salivary glands.

Publication ,  Journal Article
Mithani, SK; Shao, C; Tan, M; Smith, IM; Califano, JA; El-Naggar, AK; Ha, PK
Published in: PLoS One
December 30, 2009

BACKGROUND: The MitoChip v2.0 resequencing array is an array-based technique allowing for accurate and complete sequencing of the mitochondrial genome. No studies have investigated mitochondrial mutation in salivary gland adenoid cystic carcinomas. METHODOLOGY: The entire mitochondrial genome of 22 salivary gland adenoid cystic carcinomas (ACC) of salivary glands and matched leukocyte DNA was sequenced to determine the frequency and distribution of mitochondrial mutations in ACC tumors. PRINCIPAL FINDINGS: Seventeen of 22 ACCs (77%) carried mitochondrial mutations, ranging in number from 1 to 37 mutations. A disproportionate number of mutations occurred in the D-loop. Twelve of 17 tumors (70.6%) carried mutations resulting in amino acid changes of translated proteins. Nine of 17 tumors (52.9%) with a mutation carried an amino acid changing mutation in the nicotinamide adenine dinucleotide dehydrogenase (NADH) complex. CONCLUSIONS/SIGNIFICANCE: Mitochondrial mutation is frequent in salivary ACCs. The high incidence of amino acid changing mutations implicates alterations in aerobic respiration in ACC carcinogenesis. D-loop mutations are of unclear significance, but may be associated with alterations in transcription or replication.

Duke Scholars

Published In

PLoS One

DOI

EISSN

1932-6203

Publication Date

December 30, 2009

Volume

4

Issue

12

Start / End Page

e8493

Location

United States

Related Subject Headings

  • Young Adult
  • Salivary Gland Neoplasms
  • Nucleic Acid Conformation
  • NAD
  • Mutation
  • Middle Aged
  • Male
  • Humans
  • Genome, Mitochondrial
  • General Science & Technology
 

Citation

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Mithani, S. K., Shao, C., Tan, M., Smith, I. M., Califano, J. A., El-Naggar, A. K., & Ha, P. K. (2009). Mitochondrial mutations in adenoid cystic carcinoma of the salivary glands. PLoS One, 4(12), e8493. https://doi.org/10.1371/journal.pone.0008493
Mithani, Suhail K., Chunbo Shao, Marietta Tan, Ian M. Smith, Joseph A. Califano, Adel K. El-Naggar, and Patrick K. Ha. “Mitochondrial mutations in adenoid cystic carcinoma of the salivary glands.PLoS One 4, no. 12 (December 30, 2009): e8493. https://doi.org/10.1371/journal.pone.0008493.
Mithani SK, Shao C, Tan M, Smith IM, Califano JA, El-Naggar AK, et al. Mitochondrial mutations in adenoid cystic carcinoma of the salivary glands. PLoS One. 2009 Dec 30;4(12):e8493.
Mithani, Suhail K., et al. “Mitochondrial mutations in adenoid cystic carcinoma of the salivary glands.PLoS One, vol. 4, no. 12, Dec. 2009, p. e8493. Pubmed, doi:10.1371/journal.pone.0008493.
Mithani SK, Shao C, Tan M, Smith IM, Califano JA, El-Naggar AK, Ha PK. Mitochondrial mutations in adenoid cystic carcinoma of the salivary glands. PLoS One. 2009 Dec 30;4(12):e8493.

Published In

PLoS One

DOI

EISSN

1932-6203

Publication Date

December 30, 2009

Volume

4

Issue

12

Start / End Page

e8493

Location

United States

Related Subject Headings

  • Young Adult
  • Salivary Gland Neoplasms
  • Nucleic Acid Conformation
  • NAD
  • Mutation
  • Middle Aged
  • Male
  • Humans
  • Genome, Mitochondrial
  • General Science & Technology