Medical SpecialtyOpen Access

Whole mitochondrial DNA sequencing analysis in patients with degenerative meniscus rear

2022
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Advisor: Prof. Dr. Özal Özcan

Abstract (EN)

Objective : Meniscal tears are a common orthopedic condition that negatively affects walking function. According to the frequency of meniscus tears, they are caused by traumatic, degenerative or congenital causes. Degenerative meniscal tears can occur at any age, but mostly seen in people over the age of 45 years. Degenerative meniscus tears are thought to occur as part of the aging process, because of the collagen fibers in the meniscus begin to breakdown and less support the meniscus structure. In the planned study, what is role of mitochondria, which is one of the organelles responsible for aging in the cellular dimension, in meniscal ruptures that occur in young individuals as contrary to often seen, was investigated. Material and Methods: Within the scope of the study, the meniscus tissue taken for debridement during the arthroscopic surgery used as material without any additional intervention and/or application of any additional medical agents during the surgical operation. Mitochondrial DNA sequencing analysis was performed from samples taken from meniscus tissue and peripheral blood. Results: From the samples, 127 different variations were determined in 29 different genes and a total of 216 variants were detected. While 187 of these detected variants were benign, 21 were VUS and 8 of them were pathogenic. A total of 77 mtDNA variants (73 benign, 3 VUS, 1 pathogenic) in the traumatic group, 83 mtDNA variants in the degenerative group (65 benign, 13 VUS, 5 pathogenic), and a total of 56 mtDNA variants in the anterior cruciate ligament group (49 benign, 5 VUS, 2 pathogenic) were detected. Conclusion: In our study, in which we investigeted an answer to the question of whether mtDNA mutation and a possible histological premature aging could be among the predisposing factors in patients with degenerative meniscal tear at a young age, in the data we obtained mtDNA mutation was detected significantly in the group with degenerative meniscal tear. In this context, it is thought that with future studies, patients who may be predisposed to degenerative meniscal tears at a young age can be identified and prior to surgical treatment can be reduced by medical intervention before degeneration occurs. Keywords:Meniscus, Mitochondrial DNA, Aging, Mutation

Author

Dr. İbrahim Ethem Bütüner

How to Cite

İbrahim Ethem Bütüner (Medical Specialty Thesis). Whole mitochondrial DNA sequencing analysis in patients with degenerative meniscus rear, 2022, Afyonkarahisar Health Sciences University.

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