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

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.

Animals ; Chickens ; classification ; genetics ; DNA, Mitochondrial ; genetics ; Liver ; metabolism ; 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 human mitochondrial genome consists of approximate 1500 genes, among which 37 are encoded by the mitochondrial DNA (mtDNA) and the remainder encoded in the nuclear DNA (nDNA). The mitochondria produces large amount of the cellular reactive oxygen species (ROS). ROS induces the mutations of mtDNA and mtDNA, which are associated with a wide range of age-related diseases including neurodegenerative diseases, cardiomyopathy, diabetes and various cancers.
Aging ; DNA, Mitochondrial ; genetics ; Genetic Therapy ; Humans ; Mitochondria ; genetics ; metabolism ; Mutation ; Neurodegenerative Diseases ; genetics ; therapy ; Reactive Oxygen Species ; metabolism

OBJECTIVE: To explore the genetic etiology of a Chinese pedigree affected with infantile hepatitis syndrome. METHODS: Genes associated with liver diseases subjected to high-throughput sequencing. Candidate variants were validated by Sanger sequencing of the proband and his parents. The pathogenicity of the variants was analyzed through bioinformatic analysis. RESULTS: High-throughput sequencing revealed that the proband has harbored c.182T>C (p.F61S) and c.293C>T (p.P98L) variants of the MPV17 gene, which were verified by Sanger sequencing to be inherited from his parents. The variant c.182T>C (p.F61S) was unreported previously and predicted to be likely pathogenic by bioinformatic analysis. CONCLUSION The proband was caused by the compound heterozygous variations of MPV17 gene including c.182T>C (p.F61S) and c.293C>T (p.P98L). Discovery of the novel variant has enriched the spectrum of pathogenic variants of the MPV17 gene.
China ; DNA, Mitochondrial/genetics* ; Female ; Genetic Testing ; Humans ; Membrane Proteins/genetics* ; Metabolism, Inborn Errors/genetics* ; Mitochondrial Proteins/genetics* ; Mutation ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; Syndrome

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

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

OBJECTIVE: To detect the changes of mitochondrion DNA (mtDNA) sequence in articular chondrocytes of cartilage affected by osteoarthritis and to clarified the pathogenetic mechanism of osteoarthritis. METHODS: We analyzed the mtDNA 4,977 bp deletion mutations of articular chondrocytes in 10 patients with osteoarthritis and 3 normal cartilages using the gap-PCR amplification method. We designed a two round PCR detection method, in which total DNA was isolated from articular chondrocytes as the template of the first round PCR reaction and products from the first round were the template in the second round reaction. RESULTS: The results of the first rounds of PCR reaction showed the mtDNA 524 bp amplified products in the osteoarthritis group and in the corresponding peripheral blood samples were not detected, but the 533 bp products were detected. However,the results of the second round reaction revealed that the 524 bp zones were detected in 2 of the 10 osteoarthritis patients and the corresponding peripheral blood samples were not detected. The 533 bp products were detected in all specimens. The mtDNA 524 bp amplified products in all the normal articular chondrocytes and the corresponding peripheral white blood cells contrast were not detected in both rounds PCR. CONCLUSION This was the first study to evaluate the mtDNA 4799 bp large fragment deletion mutational accumulation between nt8,470 - nt13,447 of articular chondrocytes in osteoarthritic cartilage. Osteoarthritis may be related to mtDNA mutation of articular chondrocytes.
Adult ; Cartilage, Articular ; metabolism ; pathology ; Chondrocytes ; metabolism ; DNA, Mitochondrial ; genetics ; Female ; Gene Deletion ; Humans ; Male ; Middle Aged ; Osteoarthritis ; genetics ; Osteoarthritis, Hip ; genetics ; Osteoarthritis, Knee ; genetics ; Sequence Analysis, DNA

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

OBJECTIVETo explore the correlation of the mutation of MTCYB and MTATP6 genes in sperm mitochondria with asthenospermia.

METHODSWe extracted mtDNA from 80 semen samples of asthenospermia and 20 of normal sperm motility, amplified the MTCYB and MTATP6 genes by PCR, and analyzed their mutation by sequencing and BLAST matching.

RESULTSThe deletion of both MTCYB and MTATP6 were detected in 20 of the 80 asthenospermia samples, MTCYB deletion in 16 and MTATP6 deletion in 4, accounting for 20% and 5% respectively. Sequencing and BLAST matching revealed G8887A mutation in the MTATP6 gene in the asthenospermia samples, with a mutation rate of 20%, while no regular mutation was noted in MTCYB. Neither significant deletion nor mutation was observed in any of the 20 samples of normal sperm motility.

CONCLUSIONBoth the deletion and mutation of MTCYB and MTATP6 genes in sperm mitochondria might affect sperm motility in adults.

Adult ; Asthenozoospermia ; genetics ; pathology ; Base Sequence ; Cytochromes b ; genetics ; DNA, Mitochondrial ; genetics ; Humans ; Male ; Mitochondrial Proteins ; genetics ; Mitochondrial Proton-Translocating ATPases ; genetics ; Molecular Sequence Data ; Mutation ; Sequence Homology, Nucleic Acid ; Sperm Count ; Spermatozoa ; metabolism ; pathology