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.


METHODS
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.


RESULTS
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
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.
Mithani
Suhail K
SK
Department of Surgery, Division of Plastic and Reconstructive Surgery, Johns Hopkins Medical Institutions, Baltimore, Maryland, United States of America.
Shao
Chunbo
C
Tan
Marietta
M
Smith
Ian M
IM
Califano
Joseph A
JA
El-Naggar
Adel K
AK
Ha
Patrick K
PK
D000293:Adolescent; D000328:Adult; D000368:Aged; D000596:Amino Acids / Q000235:genetics; D003528:Carcinoma, Adenoid Cystic / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics*; D003710:Demography; D005260:Female; D054629:Genome, Mitochondrial; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009243:NAD / Q000378:metabolism; D009690:Nucleic Acid Conformation; D012468:Salivary Gland Neoplasms / Q000235:genetics*; D055815:Young Adult
D000596:Amino Acids; D004272:DNA, Mitochondrial; D009243:NAD