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Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
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Mitochondrial genome analysis in penile carcinoma
L F Araujo1,2, A T Terra3, C T G Sares3
1Department of Genetics at Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.
Molecular Biology Reports
|June 28, 2018
Summary
Mitochondrial genome instability, characterized by increased variants and heteroplasmy, is observed in penile carcinoma (PeCa). These alterations suggest a role for mitochondrial DNA in PeCa development and potential therapeutic strategies.
Area of Science:
- Oncology
- Genetics
- Mitochondrial Biology
Background:
- Penile carcinoma (PeCa) is a rare cancer with potential links to socio-economic factors.
- Mitochondrial genome alterations are implicated in tumorigenesis across various cancer types.
- Understanding mitochondrial involvement in PeCa is crucial for novel therapeutic approaches.
Purpose of the Study:
- To investigate mitochondrial genome alterations in penile carcinoma.
- To evaluate heteroplasmy, mutational load, and mtDNA content in PeCa tissues.
- To identify potential roles of mitochondrial DNA in PeCa pathogenesis.
Main Methods:
- Next-generation sequencing (NGS) of the mitochondrial genome in 13 penile tumors and 12 non-neoplastic samples.
- Assessment of heteroplasmy and mtDNA variants using bioinformatics tools.
- Evaluation of variant pathogenicity with Mutpred software and mtDNA content via quantitative PCR.
Main Results:
- Increased non-synonymous variants and higher heteroplasmy frequency in penile tumor tissues.
- Significant depletion of mitochondrial DNA (mtDNA) content in penile tumors compared to normal tissues.
- Identification of five novel mitochondrial variants exclusively in tumoral tissues, indicating increased mitochondrial instability.
Conclusions:
- Penile tumors exhibit heightened mitochondrial genome instability.
- Mitochondrial DNA copy number and variants may jointly disrupt mitochondrial function in PeCa.
- Further research into mitochondrial biology could unveil new therapeutic avenues for PeCa.
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