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https://www.readbyqxmd.com/read/29163634/evidence-suggesting-absence-of-mitochondrial-dna-methylation
#1
Mie Mechta, Lars R Ingerslev, Odile Fabre, Martin Picard, Romain Barrès
Methylation of nuclear genes encoding mitochondrial proteins participates in the regulation of mitochondria function. The existence of cytosine methylation in the mitochondrial genome is debated. To investigate whether mitochondrial DNA (mtDNA) is methylated, we used both targeted- and whole mitochondrial genome bisulfite sequencing in cell lines and muscle tissue from mouse and human origin. While unconverted cytosines were detected in some portion of the mitochondrial genome, their abundance was inversely associated to the sequencing depth, indicating that sequencing analysis can bias the estimation of mtDNA methylation levels...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/29161289/mitochondrial-dna-sequence-context-in-the-penetrance-of-mitochondrial-t-rna-mutations-a-study-across-multiple-lineages-with-diagnostic-implications
#2
Rachel A Queen, Jannetta S Steyn, Phillip Lord, Joanna L Elson
Mitochondrial DNA (mtDNA) mutations are well recognized as an important cause of inherited disease. Diseases caused by mtDNA mutations exhibit a high degree of clinical heterogeneity with a complex genotype-phenotype relationship, with many such mutations exhibiting incomplete penetrance. There is evidence that the spectrum of mutations causing mitochondrial disease might differ between different mitochondrial lineages (haplogroups) seen in different global populations. This would point to the importance of sequence context in the expression of mutations...
2017: PloS One
https://www.readbyqxmd.com/read/29158291/rad51c-xrcc3-facilitates-mitochondrial-dna-replication-and-maintains-integrity-of-the-mitochondrial-genome
#3
Anup Mishra, Sneha Saxena, Anjali Kaushal, Ganesh Nagaraju
Mechanisms underlying mitochondrial genome maintenance have recently gained wide attention as mutations in mitochondrial DNA (mtDNA) lead to inherited muscular and neurological diseases which are linked to aging. It has been previously reported that human RAD51, RAD51C and XRCC3 localize to mitochondria upon oxidative stress and are required for the maintenance of mtDNA stability. Since RAD51 and RAD51 paralogs are spontaneously imported into mitochondria, their precise role in mtDNA maintenance during unperturbed conditions remains elusive...
November 20, 2017: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/29158129/mitochondrial-transfer-between-cells-methodological-constraints-in-cell-culture-and-animal-models
#4
M V Berridge, P M Herst, M R Rowe, R Schneider, M J McConnell
Interest in the recently discovered phenomenon of mitochondrial transfer between mammalian cells has gained momentum since it was first described in cell culture systems more than a decade ago. Mitochondria-targeting fluorescent dyes have been repurposed and are now widely used in these studies and in acute disease models, sometimes without due consideration of their limitations, while vectors containing mitochondrially-imported fluorescent proteins have complemented the use of mitochondria-targeting dyes. Genetic approaches that use mitochondrial DNA polymorphisms have also been used in some in vitro studies and in tumor models and are particularly useful where mtDNA is damaged or deleted...
November 17, 2017: Analytical Biochemistry
https://www.readbyqxmd.com/read/29157198/independent-impacts-of-aging-on-mitochondrial-dna-quantity-and-quality-in-humans
#5
Ruoyu Zhang, Yiqin Wang, Kaixiong Ye, Martin Picard, Zhenglong Gu
BACKGROUND: The accumulation of mitochondrial DNA (mtDNA) mutations, and the reduction of mtDNA copy number, both disrupt mitochondrial energetics, and may contribute to aging and age-associated phenotypes. However, there are few genetic and epidemiological studies on the spectra of blood mtDNA heteroplasmies, and the distribution of mtDNA copy numbers in different age groups and their impact on age-related phenotypes. In this work, we used whole-genome sequencing data of isolated peripheral blood mononuclear cells (PBMCs) from the UK10K project to investigate in parallel mtDNA heteroplasmy and copy number in 1511 women, between 17 and 85 years old, recruited in the TwinsUK cohorts...
November 21, 2017: BMC Genomics
https://www.readbyqxmd.com/read/29156421/impaired-mitochondrial-respiration-in-human-carotid-plaque-atherosclerosis-a-potential-role-for-pink1-in-vascular-smooth-muscle-cell-energetics
#6
Craig K Docherty, Andy Carswell, Elaine Friel, John R Mercer
BACKGROUND AND AIMS: DNA damage and mitochondrial dysfunction are thought to play an essential role in ageing and the energetic decline of vascular smooth muscle cells (VSMCs) essential for maintaining plaque integrity. We aimed to better understand VSMCs and identify potentially useful compensatory pathways that could extend their lifespan. Moreover, we wanted to assess if defects in mitochondrial respiration exist in human atherosclerotic plaques and to identify the appropriate markers that may reflect a switch in VSMC energy metabolism...
November 13, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29139642/matrilineal-heritage-in-southern-iberia-reveals-deep-genetic-links-between-continents
#7
Candela L Hernández, Rosario Calderón
Within the Mediterranean Basin, the Iberian Peninsula has been a focus of attraction for several cultures and civilizations from its prehistory and history, making it a target territory for studying human migration patterns and peopling processes using a wide and heterogeneous spectrum of genomic markers. While its Cantabrian fringe represents the most regularly analysed area in terms of its mitochondrial diversity, the absence of monographic surveys on the maternal genetic composition of southern Iberians (i...
March 2017: Collegium Antropologicum
https://www.readbyqxmd.com/read/29138850/role-of-mitochondrial-function-in-the-invasiveness-of-human-colon-cancer-cells
#8
Chen-Sung Lin, Li-Tzu Liu, Liang-Hung Ou, Siao-Cian Pan, Chia-I Lin, Yau-Huei Wei
We investigated the role of mitochondrial function in the invasiveness of human colorectal cancer (CRC) cell lines, using paired primary SW480 and metastatic SW620 cells, and appraised the clinical relevance of the alteration of mtDNA copy number in 33 pairs of CRC specimens after surgical resection. Suppression of mitochondrial function was achieved by the exposure of cells to oligomycin A (OA) or by knockdown of mitochondrial transcriptional factor A (TFAM) to evaluate their effects on energy metabolism, reactive oxygen species, protein expression levels of epithelial-mesenchymal transition (EMT) markers and invasive activity of CRC cells...
November 9, 2017: Oncology Reports
https://www.readbyqxmd.com/read/29138417/association-of-predicted-pathogenic-mutations-in-mitochondrial-nd-genes-with-distant-metastasis-in-nsclc-and-colon-cancer
#9
Nobuko Koshikawa, Miho Akimoto, Jun-Ichi Hayashi, Hiroki Nagase, Keizo Takenaga
Cancer cells have more mutations in their mitochondrial DNA (mtDNA) than do normal cells, and pathogenic mutations in the genes encoding mitochondrial NADH dehydrogenase (ND) subunits have been found to enhance the invasive and metastatic ability of various tumour cells in animal experiments. However, it is unknown whether single-nucleotide variants (SNVs) of the ND genes that decrease complex I activity are involved in distant metastasis in human clinical samples. Here, we demonstrated the enhancement of the distant metastasis of Lewis lung carcinoma cells by the ND6 13885insC mutation, which is accompanied by the overexpression of metastasis-related genes, metabolic reprogramming, the enhancement of tumour angiogenesis and the acquisition of resistance to stress-induced cell death...
November 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29130947/application-of-digital-pcr-in-detecting-human-diseases-associated-gene-mutation
#10
Yu Tong, Shizhen Shen, Hui Jiang, Zhi Chen
Gene mutation has been considered a research hotspot, and the rapid development of biomedicine has enabled significant advances in the evaluation of gene mutations. The advent of digital polymerase chain reaction (dPCR) elevates the detection of gene mutations to unprecedented levels of precision, especially in cancer-associated genes. dPCR has been utilized in the detection of tumor markers in cell-free DNA (cfDNA) samples from patients with different types of cancer in samples such as plasma, cerebrospinal fluid, urine and sputum, which confers significant value for dPCR in both clinical applications and basic research...
2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29128545/massive-parallel-sequencing-of-mitochondrial-dna-genomes-from-mother-child-pairs-using-the-ion-torrent-personal-genome-machine-pgm
#11
Ke Ma, Xueying Zhao, Hui Li, Yu Cao, Wei Li, Jian Ouyang, Lu Xie, Wenbin Liu
Mitochondrial genome analysis is a potent tool in forensic practice and in the understanding of human phylogeny in the maternal lineage. With the development of molecular biology and bioinformatics techniques, high-throughput sequencing has enabled mtDNA analysis during whole genome sequencing, which provides more comprehensive information and raises the power of discrimination. In this study, peripheral blood samples were taken from 194 mother-offspring pairs and sequenced by Ion Torrent Personal Genome Machine and obtained high-coverage mitochondrial sequencing data, demonstrating the mutation levels at each position in the mitochondrial DNA (mtDNA) between maternally related pairs...
November 6, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29126122/mode-and-rate-of-evolution-of-haemosporidian-mitochondrial-genomes-timing-the-radiation-of-avian-parasites
#12
M Andreína Pacheco, Nubia E Matta, Gediminas Valkiunas, Patricia G Parker, Beatriz Mello, Craig E Stanley, Miguel Lentino, M Alexandra Garcia-Amado, Michael Cranfield, Sergei L Kosakovsky Pond, Ananias A Escalante
Haemosporidians are a diverse group of vector-borne parasitic protozoa that includes the agents of human malaria; however, most of the described species are found in birds and reptiles. Although our understanding of these parasites' diversity has expanded by analyses of their mitochondrial genes, there is limited information on these genes' evolutionary rates. Here, 114 mitochondrial genomes (mtDNA) were studied from species belonging to four genera: Leucocytozoon, Haemoproteus, Hepatocystis, and Plasmodium...
November 6, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/29121011/assisted-reproductive-technologies-to-prevent-human-mitochondrial-disease-transmission
#13
Andy Greenfield, Peter Braude, Frances Flinter, Robin Lovell-Badge, Caroline Ogilvie, Anthony C F Perry
Mitochondria are essential cytoplasmic organelles that generate energy (ATP) by oxidative phosphorylation and mediate key cellular processes such as apoptosis. They are maternally inherited and in humans contain a 16,569-base-pair circular genome (mtDNA) encoding 37 genes required for oxidative phosphorylation. Mutations in mtDNA cause a range of pathologies, commonly affecting energy-demanding tissues such as muscle and brain. Because mitochondrial diseases are incurable, attention has focused on limiting the inheritance of pathogenic mtDNA by mitochondrial replacement therapy (MRT)...
November 9, 2017: Nature Biotechnology
https://www.readbyqxmd.com/read/29110746/lead-promotes-abnormal-angiogenesis-induced-by-ccm3-gene-defects-via-mitochondrial-pathway
#14
Y Sun, H Zhang, X Xing, Z Zhao, J He, J Li, J Chen, M Wang, Y He
Lead is one of the environmental pollutants with cardiovascular toxicity. The embryos are particularly sensitive to lead exposure, because it can move through the blood-placental barrier and the blood-brain barrier easily during embryonic development. Cerebral cavernous malformations 3 (CCM3) gene plays an important role in cardiovascular development, mainly affecting cell proliferation, differentiation and apoptosis. In this study, we established a blood vessel development model of mouse embryos in order to imitate human people with CCM3 genes defects and exposing to environment toxin Pb in utero...
November 7, 2017: Journal of Developmental Origins of Health and Disease
https://www.readbyqxmd.com/read/29106596/aberrant-ribonucleotide-incorporation-and-multiple-deletions-in-mitochondrial-dna-of-the-murine-mpv17-disease-model
#15
Chloe F Moss, Ilaria Dalla Rosa, Lilian E Hunt, Takehiro Yasukawa, Robert Young, Aleck W E Jones, Kaalak Reddy, Radha Desai, Sam Virtue, Greg Elgar, Peter Voshol, Martin S Taylor, Ian J Holt, Martin A M Reijns, Antonella Spinazzola
All DNA polymerases misincorporate ribonucleotides despite their preference for deoxyribonucleotides, and analysis of cultured cells indicates that mammalian mitochondrial DNA (mtDNA) tolerates such replication errors. However, it is not clear to what extent misincorporation occurs in tissues, or whether this plays a role in human disease. Here, we show that mtDNA of solid tissues contains many more embedded ribonucleotides than that of cultured cells, consistent with the high ratio of ribonucleotide to deoxynucleotide triphosphates in tissues, and that riboadenosines account for three-quarters of them...
November 2, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29101892/performance-evaluation-of-a-mitogenome-capture-and-illumina-sequencing-protocol-using-non-probative-case-type-skeletal-samples-implications-for-the-use-of-a-positive-control-in-a-next-generation-sequencing-procedure
#16
Charla Marshall, Kimberly Sturk-Andreaggi, Jennifer Daniels-Higginbotham, Robert Sean Oliver, Suzanne Barritt-Ross, Timothy P McMahon
Next-generation ancient DNA technologies have the potential to assist in the analysis of degraded DNA extracted from forensic specimens. Mitochondrial genome (mitogenome) sequencing, specifically, may be of benefit to samples that fail to yield forensically relevant genetic information using conventional PCR-based techniques. This report summarizes the Armed Forces Medical Examiner System's Armed Forces DNA Identification Laboratory's (AFMES-AFDIL) performance evaluation of a Next-Generation Sequencing protocol for degraded and chemically treated past accounting samples...
September 8, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29097205/characterization-of-human-alkb-homolog-1-produced-in-mammalian-cells-and-demonstration-of-mitochondrial-dysfunction-in-alkbh1-deficient-cells
#17
Tina A Müller, Sarah L Struble, Katheryn Meek, Robert P Hausinger
Alkbh1 is a mammalian homolog of the Escherichia coli DNA repair enzyme AlkB, an Fe(II) and 2-oxoglutarate dependent dioxygenase that removes alkyl lesions from DNA bases. The human homolog ALKBH1 has been associated with six different enzymatic activities including DNA, mRNA, or tRNA hydroxylation, cleavage at abasic (AP) sites in DNA, as well as demethylation of histones. The reported cellular roles of this protein reflect the diverse enzymatic activities and include direct DNA repair, tRNA modification, and histone modification...
October 31, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29093766/generation-and-bioenergetic-profiles-of-cybrids-with-east-asian-mtdna-haplogroups
#18
Huaibin Zhou, Ke Nie, Ruyi Qiu, Jingting Xiong, Xiaoli Shao, Bingqian Wang, Lijun Shen, Jianxin Lyu, Hezhi Fang
Human mitochondrial DNA (mtDNA) variants and haplogroups may contribute to susceptibility to various diseases and pathological conditions, but the underlying mechanisms are not well understood. To address this issue, we established a cytoplasmic hybrid (cybrid) system to investigate the role of mtDNA haplogroups in human disease; specifically, we examined the effects of East Asian mtDNA genetic backgrounds on oxidative phosphorylation (OxPhos). We found that mtDNA single nucleotide polymorphisms such as m.489T>C, m...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/29079678/mitochondrial-dna-density-homeostasis-accounts-for-a-threshold-effect-in-a-cybrid-model-of-a-human-mitochondrial-disease
#19
Juvid Aryaman, Iain G Johnston, Nick S Jones
Mitochondrial dysfunction is involved in a wide array of devastating diseases but the heterogeneity and complexity of these diseases' symptoms challenges theoretical understanding of their causation. With the explosion of -omics data, we have the unprecedented opportunity to gain deep understanding of the biochemical mechanisms of mitochondrial dysfunction. This goal raises the need to make these complex datasets interpretable. Quantitative modelling allows us to translate such datasets into intuition and suggest rational biomedical treatments...
October 27, 2017: Biochemical Journal
https://www.readbyqxmd.com/read/29076529/high-resolution-mitochondrial-dna-analysis-sheds-light-on-human-diversity-cultural-interactions-and-population-mobility-in-northwestern-amazonia
#20
Leonardo Arias, Chiara Barbieri, Guillermo Barreto, Mark Stoneking, Brigitte Pakendorf
OBJECTIVES: Northwestern Amazonia (NWA) is a center of high linguistic and cultural diversity. Several language families and linguistic isolates occur in this region, as well as different subsistence patterns, with some groups being foragers and others agriculturalists. In addition, speakers of Eastern Tukanoan languages are known for practicing linguistic exogamy, a marriage system in which partners are taken from different language groups. In this study, we use high-resolution mitochondrial DNA sequencing to investigate the impact of this linguistic and cultural diversity on the genetic relationships and population structure of NWA groups...
October 27, 2017: American Journal of Physical Anthropology
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