Leigh syndrome (LS) is a genetically and clinically heterogeneous disorder caused by metabolic defects affecting lactate/pyruvate metabolism. The consequence of the metabolic defects are decreased amounts of APT and basic cell energy productions of the nervous system. In LS, several mutations have been reported in both the nuclear and the mitochondrial genome. Here, we report a 26-year-old woman clinically diagnosed with LS having characteristic brain MR and MRS abnormalities but without known definite pathogenetic mitochondrial DNA mutations.
Adult ; Brain ; DNA, Mitochondrial ; Female ; Genome, Mitochondrial ; Humans ; Leigh Disease* ; Magnetic Resonance Imaging* ; Metabolism ; Mitochondrial Diseases ; Nervous System

Rotenone is one of the typical inhibitors of the complex I on the mitochondrial respiratory chain. Numerous studies showed when applied to live animals or cells, rotenone could lead to mitochondrial dysfunction, ROS augment, and thus oxidative damage to proteins, lipids and nucleic acids. Through exploring the process of ROS generation in mitochondria, the relationship between rotenone and mitochondrial ROS generation and the role of rotenone in DNA damage, we elucidated the mechanisms of rotenone induced-mitochondrial oxidative damage. At the same time, we attempted to explore the mtDNA damage and the mutation induced by rotenone.
Animals ; DNA Damage ; DNA, Mitochondrial ; Mitochondria ; pathology ; Mutation ; Oxidative Stress ; Reactive Oxygen Species ; metabolism ; Rotenone ; metabolism

Nuclease-based gene editing technologies have opened up opportunities for correcting human genetic diseases. For the first time, scientists achieved targeted gene editing of mitochondrial DNA in mouse oocytes fused with patient cells. This fascinating progression may encourage the development of novel therapy for human maternally inherent mitochondrial diseases.
Animals ; DNA, Mitochondrial ; genetics ; Embryo, Mammalian ; metabolism ; Genome ; Germ Cells ; metabolism ; Humans ; Mitochondrial Diseases ; genetics ; therapy ; RNA Editing ; genetics

Mitochondrial DNA is the mitochondria's own genetic material located within the mitochondrial matrix and is involved in cellular metabolism and energy supply. Mitochondrial DNA damage exacerbates oxidative stress by increasing the release of reactive oxygen species, while mitochondrial DNA release also triggers apoptosis and activates immune inflammatory responses through damage-related molecular patterns. Mitochondrial autophagy regulates mitochondrial DNA damage and release through a negative feedback mechanism to maintain intracellular homeostasis. Recent studies have shown that the occurrence and development of chronic liver disease are closely related to mitochondrial DNA-mediated immune inflammatory responses and oxidative stress.
Apoptosis ; Autophagy ; DNA, Mitochondrial/metabolism* ; Humans ; Liver Diseases ; Mitochondria ; Oxidative Stress ; Reactive Oxygen Species/metabolism*

Aneuploidy is an important point at issue in human reproductive biology, accounting for both a major proportion of miscarriages and various congenital malformation syndromes among newborns. Despite its high incidence and severe clinical consequences, very little is known about how aneuploidy originates in human. On the other hand, remarkable progress has been made in the research of meiosis. The failure of any process in meiosis can result in chromosome mal-disjunction. The alteration in recombination and the premature separation of sister chromatids are two important processes on which more intensive researches have been done. In addition, mtDNA mutation and sexual dimorphism in aneuploidy genesis have also attracted more and more researchers' attention.
Aneuploidy ; Animals ; Chromatids ; metabolism ; DNA, Mitochondrial ; genetics ; Humans ; Recombination, Genetic ; Sex Characteristics

OBJECTIVETo establish a convenient and accurate method of DNA molecular marker for the identification of corium stomachium galli.

METHODCytb mtDNA sequences of Gallus gallus domestica and three other species of poultry were downloaded from Genbank. Species-specific PCR primers were designed according to the differential DNA fragments of the cytb genes. PCR tests were performed with the DNAs extracted from G. gallus domestica, three other poultry species and domestic mammal animals.

RESULTThe specific primers of G. gallus domestica could only amplify the cytb mtDNA of G. gallus domestica.

CONCLUSIONThe primers are specific to G. gallus domestica mtDNA and can used to discern Corium stomachium from the false medicine.

Mutation and reduction of mitochondrial DNA (mtDNA) have been suggested as factors in the pathogenesis of several metabolic diseases. Recently, we demonstrated that C1qTNF-related protein-6 (CTRP6) is involved in fatty acid metabolism in muscle cells. In this study, we showed that expression of CTRP6 was up-regulated in mtDNA-depleted C2C12 cells, which displayed a marked decrease in cellular mtDNA and ATP content. Replacement of mtDNA normalized the expression level of CTRP6 similar to that in normal C2C12 cells, indicating that CTRP6 expression was up-regulated by mtDNA depletion. However, CTRP6 promoter activity remained unchanged in mtDNA-depleted cells. We also found that mtDNA depletion inhibited decay of CTRP6 mRNA. Taken together, mtDNA depletion induces an increase in CTRP6 expression by increasing mRNA stability.
Adiponectin/*genetics/metabolism ; Animals ; Cell Line ; DNA, Mitochondrial/*metabolism ; Mice ; Promoter Regions, Genetic ; RNA Stability ; RNA, Messenger/*metabolism ; Up-Regulation

OBJECTIVE: The aim of this study is to analyze the mitochondrial DNA in failing and normal hearts. METHODS: Genomic DNA was extracted from 18 failing and 4 normal hearts. The DNA was digested with each 50 units of BamH I, Pvu II, Pst I, and hybridized using DNA fragments encoding CO II (cytochrome oxidase II) and CO IU. They were detected using 'Fluorescein Gene Images' system. RESULTS: The light microscopic feature of failing myocardium was compatible with that of primary cardiomyopathy. In southern blot analysis, there was no significant difference in mitochondrial DNA amounts between normal and failing hearts. The amount of mitochondrial DNA in hearts, whether normal or failing, was greater than that in lymphocytes. There were no abnormal bands except 16.6kb-normal band using the enzyme BamH I, Pvu II from failing and normal hearts. After digesting with Pst I, 2.1kb band was found using probe CO II and 14.5kb band using probe CO III. CONCLUSION: The amount of mitochondrial DNA in hearts, whether normal or failing, was greater than that in lymphocytes, which suggests that the heart is an active organ in the energy metabolism. Abnormal band was not found in southern blot analysis of the mitochondrial DNA from failing and normal hearts. The more sensitive method such as PCR is required to detect the presence of sma11 amount of mutated DNA.
Blotting, Southern ; Cardiomyopathies ; DNA ; DNA, Mitochondrial* ; Energy Metabolism ; Heart Failure ; Heart* ; Lymphocytes ; Myocardium ; Oxidoreductases ; Polymerase Chain Reaction

Mitochondrial diseases is a group of metabolic disorders caused by abnormal structure and dysfunction of mitochondrial DNA (mtDNA). Abnormalities of mtDNA include point mutations, deletions, and rearrangements and depletion of mtDNA. These may affect the ability of mitochondria to generate energy in cells of various tissues and organs. As many factors are involved in the regulation of mtDNA mutations, most mitochondrial diseases may manifest great genetic heterogeneity and a wide spectrum of clinical manifestations. On the other hand, for the low prevalence of single disease, these disorders may be easily missed or with delayed diagnosis. This review focuses on the pathological mutations and benign variations of mtDNA, and research progress on such disorders.
Biomedical Research ; methods ; trends ; DNA, Mitochondrial ; genetics ; Energy Metabolism ; genetics ; Genetic Heterogeneity ; Humans ; Mitochondria ; genetics ; metabolism ; Mitochondrial Diseases ; diagnosis ; genetics ; Mutation

The great majority of genetic disorders are caused by defects in the nuclear genome. However, some significant diseases are the result of mitochondrial mutations. Because of the unique features of the mitochondria, these diseases display characteristic modes of inheritance and a large degree of phenotypic variability. Recent studies have suggested that mitochondrial dysfunction plays a central role in a wide range of age-related disorders and various forms of cancer.
DNA, Mitochondrial ; metabolism ; Genetic Diseases, Inborn ; diagnosis ; genetics ; Humans ; Mitochondria ; physiology ; Mitochondrial Diseases ; metabolism ; pathology ; Mutation ; Neoplasms ; diagnosis ; genetics ; pathology ; Oxidative Phosphorylation ; Oxygen ; Phenotype ; Reactive Oxygen Species