| خلاصه مقاله | Background: Retinoblastoma, as a rare childhood ophthalmic cancer, is challenging in early
diagnosis and hard to treat. Mitochondrial DNA (mtDNA) is widely used in molecular biology
research to recognize genetic alterations contributing to cancer development, progression, and
treatment resistance. The tiny size, easy isolation, less genetic rearrangements, and high copy number
for example up to 1000 copies make mtDNA a good candidate for study in the genetics of different
diseases. In this regard, recent advances in mtDNA function have improved our knowledge of
mitochondria DNA content in ocular cancer, and retinoblastoma. This review dissected recent
discoveries of mtDNA content changes in retinoblastoma as a potential candidate for premature
diagnosis and the development of innovative future therapeutics .Methods:
Using the keywords “Retinoblastoma”, “Mitochondrial DNA”, “diagnosis”, and “treatment”, all
articles were retrieved from Google Scholar, PubMed, and Scopus since 2010.
Results:
Some investigations in recent malignancies disclosed that small changes in the mtDNA can strongly
affect nuclear DNA and subsequently affect tumorigenesis. In this way, several studies focusing on
Retinoblastoma patients showed that mtDNA displacement (D)-loop mutations may take a part in
retinoblastoma tumor establishment and progression . For instance, mt D-loop variations especially
A73G was the most common mutation as well as the loss of mitochondrial complex I, were reported
which also resulted in morphological changes of the mitochondria.
Conclusion:
In conclusion, mtDNA D-loop mutations probably direct the progression of tumors in
Retinoblastoma and by identifying them novel biomarkers for early diagnosis and treatment of
Retinoblastoma will be available. |