Joseph P.Dec 7, 2022

It has been studied in various types of cancer, such as @breastcancer, @colorectal, @gastric, @hepatocellular, and @brain tumors, and is thought to be associated with external environmental factors, @genetic predisposition, and ethnicity.

Different types of deletions in mtDNA (mitochondrial DNA) that are associated with cancer. The 5.1.3 section is talking about the 3895 bp deletion, which was first observed in 1991 in two patients with progressive external @ophthalmoplegia .

Show threadJoseph P.Dec 7, 2022
It was then found to be 10 times less frequent than the 4977 bp deletion. A study involving 104 age-matched subjects showed that the 3895 bp deletion was more frequent in those with usually sun-exposed @skin and non @melanoma @skincancer . The 4576 bp deletion was then discussed, which was found to be an indicator for @breastcancer in a study involving 39 breast cancer patients. The 4576 bp deletion was not found in 23 normal patients without breast cancer.
Show threadJoseph P.
The @mtdna copy number is the amount of @mtdna in each @cell . It is suggested that @mtdna copy number changes may lead to mitochondrial instability and regulate energy @metabolism , which can initiate @tumorigenesis . Studies have also shown that @mtdna copy number changes can be used as a predictive @biomarker for @chemotherapy response.
Dec 7, 2022 at 5:33pmWeb
Show threadJoseph P.Dec 7, 2022
@cellfree mtDNA (cf-mtDNA) is a type of mitochondrial DNA that is released into the @blood circulation due to disruption of the normal mitochondrial life cycle. It is believed to activate the Toll-like receptor 9 (TLR9) pathway, which can cause @inflammation and potentially lead to @cancer . It has been used to diagnose cancer and @sepsis , and as a @biomarker for @metabolicsyndrome and predicting the risk of future @diabetes .
Show threadJoseph P.Dec 7, 2022
It is also being studied as a @noninvasive liquid @biopsy for @cancer, as higher levels of cf-mtDNA have been found in cancer patients compared to healthy controls. @research is being conducted to find the potential link between cf-mtDNA and various cancers, as it is a preferable biomarker due to its higher @mtdna copy number, simpler structure, and shorter length.
Show threadJoseph P.Dec 7, 2022
Mitochondrial Microsatellite Instability (@mtmsi) is a type of genetic mutation that occurs in the mitochondrial @genome . It is caused by short tandem repeats (mononucleotide or dinucleotide) of 1 to 6 base pairs that are scattered throughout the mitochondrial genome. These variations can lead to frameshift mutations, which can be caused by @dna polymerase γ, an @enzyme that is responsible for oxidative damage.