This study investigated mitochondrial DNA (mtDNA) damage in rats with obstructive jaundice (OJ) and to explore its effect on mitochondrial and hepatic function. Forty-eight male Wistar rats were randomly divided into two groups: sham-operated (Sham) and bile duct ligation (BDL). Blood and tissue samples were collected from the two groups on days 1, 4, 7 and 14 following surgery. Hepatic and mit...

Deletions within the mitochondrial genome (mtDNA) have been repeatedly observed in photoaged skin and purported as a marker of photoaging. The is implicated many important cellular functions through regulation metabolome; thus mtDNA mutations are an appealing target to prevent or reverse aging-induced loss function. However, methodological limitations prevented complete understanding deletions,...

1. Mitochondrial DNA has a number of interesting properties including maternal transmission, the ability to replicate in post-mitotic cells, a high mutation rate and an extremely compact molecular architecture with no introns and no large non-coding sequences. 2. Point mutations, deletions and duplications of mitochondrial DNA may occur. Mitochondrial DNA defects may co-exist with wild-type seq...

Single deletions of mitochondrial DNA (mtDNA) were the first pathogenic mutations to be identified in human mtDNA. In a seminal paper, Holt et al reported the presence of single deletions of the mitochondrial genome in patients presenting with mitochondrial myopathies, and since then, the field has experienced enormous progress. To date, 97 different deletions have been reported in MITOMAP, the...

Mitochondrial DNA is subject to increased rates of mutations due to its proximity to the source of reactive oxygen species. Here we show that increased MHC class I (MHC I) expression serves to alert the immune system to cells with mitochondrial mutations. MHC I is overexpressed in fibroblasts with mitochondrial dysfunction from patients with mitochondrial encephalomyopathy, lactic acidosis, and...

Mitochondrial DNA (mtDNA) deletions are a common cause of mitochondrial disorders and have been found to accumulate during normal aging. Despite the fact that hundreds of deletions have been characterized at the molecular level, their mechanisms of genesis are unknown. We tested the effect of double-strand breaks of muscle mtDNA by developing a mouse model in which a mitochondrially targeted re...

OBJECTIVE To identify the cause of an adult-onset multisystemic disease with multiple deletions of mitochondrial DNA (mtDNA). DESIGN Case report. SETTING University hospitals. PATIENT A 65-year-old man with axonal sensorimotor peripheral neuropathy, ptosis, ophthalmoparesis, diabetes mellitus, exercise intolerance, steatohepatopathy, depression, parkinsonism, and gastrointestinal dysmotility. R...

This article highlights data on diseases caused by mitochondrial DNA mutations. The purpose of the review was to reveal existing that arise as a result mtDNA Mitochondrial are most often genetically determined structural and functional disorders mitochondria, result, energy supply cells is disrupted. All transmitted through maternal line, so if mutations detected in time, they can be blocked fu...

In this issue of Blood, Gagne et al describe a cohort of 362 patients clinically classified as having Diamond-Blackfan anemia (DBA), in which 175 (48%) were found to have mutations and deletions in ribosomal protein genes or GATA1, and 8 of the remaining patients (2.2% overall) had mitochondrial gene deletions consistent with Pearson marrow-pancreas syndrome (PS). The authors propose that all p...