+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Mitochondrial genome microsatellite instability and copy number alteration in lung carcinomas



Mitochondrial genome microsatellite instability and copy number alteration in lung carcinomas



Asian Pacific Journal of Cancer Prevention 14(4): 2393-2399



Mitochondrial DNA (mtDNA) is considered a hotspot of mutations in various tumors. However, the relationship between microsatellite instability (MSI) and mtDNA copy number alterations in lung cancer has yet to be fully clarifieds. In the current study, we investigated the copy number and MSI of mitochondrial genome in lung carcinomas, as well as their significance for cancer development. The copy number and MSI of mtDNA in 37 matched lung carcinoma/adjacent histological normal lung tissue samples were examined by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) assays for sequence variation, followed by sequence analysis and fluorogenic 5'-nuclease real-time PCR. Student's t test and linear regression analyses were employed to analyze the association between mtDNA copy number alterations and mitochondrial MSI (mtMSI). The mean copy number of mtDNA in lung carcinoma tissue samples was significantly lower than that of the adjacent histologically normal lung tissue samples (p < 0.001). mtMSI was detected in 32.4% (12/37) of lung carcinoma samples. The average copy number of mtDNA in lung carcinoma samples containing mtMSI was significantly lower than that in the other lung carcinoma samples (P < 0.05). Results suggest that mtMSI may be an early and important event in the progression of lung carcinogenesis, particularly in association with variation in mtDNA copy number.

Please choose payment method:






(PDF emailed within 1 workday: $29.90)

Accession: 054403611

Download citation: RISBibTeXText

PMID: 23725147


Related references

Nuclear and mitochondrial DNAs microsatellite instability and mitochondrial DNA copy number in adenocarcinoma and squamous cell carcinoma of lung: a pilot study. Apmis 123(12): 1048-1054, 2015

The relationship between copy number and microsatellite instability of mitochondrial DNA in colorectal cancer. Zhonghua Nei Ke Za Zhi 48(10): 837-840, 2009

Microsatellite instability in the mitochondrial DNA of colorectal carcinomas Evidence for mismatch repair systems in mitochondrial genome. Oncogene 17(15): 1931-1937, 1998

Variable alterations of mitochondrial microsatellite instability and DNA copy number in pulmonary hamartomas. Cancer Biomarkers 17(4): 473-478, 2016

Mitochondrial microsatellite instability in colorectal carcinomas--frequency and association with nuclear microsatellite instability. Cancer Letters 219(1): 97, 2005

Relationship between mitochondrial DNA instability, mitochondrial DNA large deletions, and nuclear microsatellite instability in head and neck squamous cell carcinomas. Diagnostic Molecular Pathology 13(1): 26-32, 2004

Genomic landscape of copy number variation and copy neutral loss of heterozygosity events in equine sarcoids reveals increased instability of the sarcoid genome. Biochimie 140: 122-132, 2017

Mitochondrial gene mutation, but not large-scale deletion, is a feature of colorectal carcinomas with mitochondrial microsatellite instability. International Journal of Cancer 83(5): 625-629, 1999

Alteration in the copy number of mitochondrial DNA in leukocytes of patients with mitochondrial encephalomyopathies. Acta Neurologica Scandinavica 113(5): 334-341, 2006

Microsatellite instability and alteration of E2F-4 gene in adenosquamous and squamous cell carcinomas of the stomach. Pathology International 50(9): 690-695, 2000

Genome-wide copy neutral LOH is infrequent in familial and sporadic microsatellite unstable carcinomas. Familial Cancer 7(4): 319-330, 2008

Association between a common mitochondrial DNA D-loop polycytosine variant and alteration of mitochondrial copy number in human peripheral blood cells. Journal of Medical Genetics 47(11): 723-728, 2010

Low-level microsatellite instability colorectal carcinomas: do they really belong to a "gray zone" between high-level microsatellite instability and microsatellite-stable cancers?. International Journal of Colorectal Disease 18(3): 216-221, 2003

Genomic instability and copy-number heterogeneity of chromosome 19q, including the kallikrein locus, in ovarian carcinomas. Molecular Oncology 5(1): 48-60, 2011

Alteration of the copy number of mitochondrial DNA in leukocytes of patients with hyperlipidemia. Annals of the new York Academy of Sciences 1042: 70-75, 2005