Mitochondria contain their own DNA (mtDNA), which codes for 13 proteins (all subunits of the respiratory chain complexes), 22 tRNAs and 2 rRNAs. Several mtDNA point mutations as well as deletions have been shown to be causative in well-defined mitochondrial disorders. A mixture of mutated and wild type mtDNA (heteroplasmy) is found in most of these disorders. Inheritance of mtDNA is maternal, a...

Colorectal cancer (CRC) is the third leading cause of cancer-related death worldwide, and its occurrence can be ascribed to genetic susceptibility. Mitochondrial DNA 4977-bp (mtDNA 4977), as the most described mtDNA deletion, has been long proposed to be involved in various types of cancers. However, a few studies on mtDNA 4977-bp deletion in Iranian patients with CRC have been reported. The cu...

Background: Successful IVF process is limited by factors such as oocyte quality. Oocyte quality can be defined as its abilities to be fertilized, mature and give rise to normal offspring and it is dependent on nuclear maturation and cytoplasm maturation. Damage to mitochondrial DNA (mtDNA) has been described in oocytes in IVF failure women that decrease cytoplasmic quality because Mitochondria ...

Background: Based on the studies, variation in the mitochondrial DNA (mtDNA) copy number in peripheral blood leukocytes is associated with increased susceptibility to diseases including cancer. Opiate abusers are at high risk for diseases. In this study, we measured the mtDNA copy number in peripheral blood leukocytes in a group of opiate abusers compared with those in healthy individuals. Met...

ataxia-telangiectasia (at) is a rare human neurodegenerative autosomal recessive multisystem disease characterized by a wide range of features including progressive cerebellar ataxia during infancy, occulocutaneous telangiectasia, susceptibility to neoplasia, occulomotor disturbances, chromosomal instability and growth and developmental abnormalities. mitochondrial dna (mtdna) has the only non-...

the mitochondrial dna (mtdna) may play an essential role in the pathogenesis of the respiratory chain complex activities in neurodegenerative disorders such as huntington’s disease (hd). research studies have been conducted to determine the possible levels of mitochondrial defect (deletion) in hd patients and the interaction between the expanded huntingtin gene as a nuclear gene and mitochondri...

Background: Chronic inflammation has critical role in Type 2 diabetes (T2D), in which IL-1β contributes in insulin resistance and beta cell dysfunction. The activation of NLRP3 and AIM2 by endogens ligands, such as mtDNA can lead to the release of active form of IL-1β. Objective: To evaluate AIM2 expression and activation as well as circulating mtDNA levels in T2D patients. Methods: AIM2 expres...

Ataxia-Telangiectasia (AT) is a rare human neurodegenerative autosomal recessive multisystem disease that is characterized by a wide range of features including, progressive cerebellar ataxia with onset during infancy, occulocutaneous telangiectasia, susceptibility to neoplasia, occulomotor disturbances, chromosomal instability and growth and developmental abnormalities. Mitochondrial DNA (mtDN...