Cargando…

Mitochondrial Mutations in Adenoid Cystic Carcinoma of the Salivary Glands

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Mithani, Suhail K., Shao, Chunbo, Tan, Marietta, Smith, Ian M., Califano, Joseph A., El-Naggar, Adel K., Ha, Patrick K.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2795173/
https://www.ncbi.nlm.nih.gov/pubmed/20041111
http://dx.doi.org/10.1371/journal.pone.0008493
_version_ 1782175420311928832
author Mithani, Suhail K.
Shao, Chunbo
Tan, Marietta
Smith, Ian M.
Califano, Joseph A.
El-Naggar, Adel K.
Ha, Patrick K.
author_facet Mithani, Suhail K.
Shao, Chunbo
Tan, Marietta
Smith, Ian M.
Califano, Joseph A.
El-Naggar, Adel K.
Ha, Patrick K.
author_sort Mithani, Suhail K.
collection PubMed
description 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.
format Text
id pubmed-2795173
institution National Center for Biotechnology Information
language English
publishDate 2009
publisher Public Library of Science
record_format MEDLINE/PubMed
spelling pubmed-27951732009-12-30 Mitochondrial Mutations in Adenoid Cystic Carcinoma of the Salivary Glands Mithani, Suhail K. Shao, Chunbo Tan, Marietta Smith, Ian M. Califano, Joseph A. El-Naggar, Adel K. Ha, Patrick K. PLoS One Research Article 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. Public Library of Science 2009-12-30 /pmc/articles/PMC2795173/ /pubmed/20041111 http://dx.doi.org/10.1371/journal.pone.0008493 Text en Mithani et al. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Mithani, Suhail K.
Shao, Chunbo
Tan, Marietta
Smith, Ian M.
Califano, Joseph A.
El-Naggar, Adel K.
Ha, Patrick K.
Mitochondrial Mutations in Adenoid Cystic Carcinoma of the Salivary Glands
title Mitochondrial Mutations in Adenoid Cystic Carcinoma of the Salivary Glands
title_full Mitochondrial Mutations in Adenoid Cystic Carcinoma of the Salivary Glands
title_fullStr Mitochondrial Mutations in Adenoid Cystic Carcinoma of the Salivary Glands
title_full_unstemmed Mitochondrial Mutations in Adenoid Cystic Carcinoma of the Salivary Glands
title_short Mitochondrial Mutations in Adenoid Cystic Carcinoma of the Salivary Glands
title_sort mitochondrial mutations in adenoid cystic carcinoma of the salivary glands
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2795173/
https://www.ncbi.nlm.nih.gov/pubmed/20041111
http://dx.doi.org/10.1371/journal.pone.0008493
work_keys_str_mv AT mithanisuhailk mitochondrialmutationsinadenoidcysticcarcinomaofthesalivaryglands
AT shaochunbo mitochondrialmutationsinadenoidcysticcarcinomaofthesalivaryglands
AT tanmarietta mitochondrialmutationsinadenoidcysticcarcinomaofthesalivaryglands
AT smithianm mitochondrialmutationsinadenoidcysticcarcinomaofthesalivaryglands
AT califanojosepha mitochondrialmutationsinadenoidcysticcarcinomaofthesalivaryglands
AT elnaggaradelk mitochondrialmutationsinadenoidcysticcarcinomaofthesalivaryglands
AT hapatrickk mitochondrialmutationsinadenoidcysticcarcinomaofthesalivaryglands