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https://www.readbyqxmd.com/read/27923120/long-oskar-controls-mitochondrial-inheritance-in-drosophila-melanogaster
#1
Thomas Ryan Hurd, Beate Herrmann, Julia Sauerwald, Justina Sanny, Markus Grosch, Ruth Lehmann
Inherited mtDNA mutations cause severe human disease. In most species, mitochondria are inherited maternally through mechanisms that are poorly understood. Genes that specifically control the inheritance of mitochondria in the germline are unknown. Here, we show that the long isoform of the protein Oskar regulates the maternal inheritance of mitochondria in Drosophila melanogaster. We show that, during oogenesis, mitochondria accumulate at the oocyte posterior, concurrent with the bulk streaming and churning of the oocyte cytoplasm...
December 5, 2016: Developmental Cell
https://www.readbyqxmd.com/read/27919073/mitochondrial-replacement-in-human-oocytes-carrying-pathogenic-mitochondrial-dna-mutations
#2
Eunju Kang, Jun Wu, Nuria Marti Gutierrez, Amy Koski, Rebecca Tippner-Hedges, Karen Agaronyan, Aida Platero-Luengo, Paloma Martinez-Redondo, Hong Ma, Yeonmi Lee, Tomonari Hayama, Crystal Van Dyken, Xinjian Wang, Shiyu Luo, Riffat Ahmed, Ying Li, Dongmei Ji, Refik Kayali, Cengiz Cinnioglu, Susan Olson, Jeffrey Jensen, David Battaglia, David Lee, Diana Wu, Taosheng Huang, Don P Wolf, Dmitry Temiakov, Juan Carlos Izpisua Belmonte, Paula Amato, Shoukhrat Mitalipov
Maternally inherited mitochondrial (mt)DNA mutations can cause fatal or severely debilitating syndromes in children, with disease severity dependent on the specific gene mutation and the ratio of mutant to wild-type mtDNA (heteroplasmy) in each cell and tissue. Pathogenic mtDNA mutations are relatively common, with an estimated 778 affected children born each year in the United States. Mitochondrial replacement therapies or techniques (MRT) circumventing mother-to-child mtDNA disease transmission involve replacement of oocyte maternal mtDNA...
November 30, 2016: Nature
https://www.readbyqxmd.com/read/27917773/mutations-of-mtdna-polymerase-%C3%AE-and-hyperlactataemia-in-the-hiv-infected-zulu-population-of-south-africa
#3
D B A Ojwach, C Aldous, P Kochleff, B Sartorius
BACKGROUND: Mitochondrial toxicity, particularly symptomatic hyperlactataemia or lactic acidosis (SHL/LA), has been attributed to the use of nucleoside reverse transcriptase inhibitors (NRTIs), possibly because of their capacity to impede human mitochondrial DNA polymerase-γ (POLG), which is responsible for the replication of mitochondrial DNA. OBJECTIVE: To determine whether known monogenic POLG1 polymorphisms could be linked with the unexpectedly high incidence of SHL/LA observed in HIV-infected Zulu-speaking patients exposed to the NRTIs stavudine or zidovudine in their antiretroviral therapy...
December 1, 2016: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/27915046/dna-damage-related-crosstalk-between-the-nucleus-and-mitochondria
#4
Mohammad Saki, Aishwarya Prakash
The electron transport chain is the primary pathway by which a cell generates energy in the form of ATP. Byproducts of this process produce reactive oxygen species that can cause damage to mitochondrial DNA. If not properly repaired, the accumulation of DNA damage can lead to mitochondrial dysfunction linked to several human disorders including neurodegenerative diseases and cancer. Mitochondria are able to combat oxidative DNA damage via repair mechanisms that are analogous to those found in the nucleus. Of the repair pathways currently reported in the mitochondria, the base excision repair pathway is the most comprehensively described...
November 30, 2016: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/27907920/aneuploidy-detection-and-mtdna-quantification-in-bovine-embryos-with-different-cleavage-onset-using-a-next-generation-sequencing-based-protocol
#5
Miroslav Hornak, David Kubicek, Petr Broz, Pavlina Hulinska, Katerina Hanzalova, Darren Griffin, Marie Machatkova, Jiri Rubes
Bovine embryos are now routinely used in agricultural systems as a means of disseminating superior genetics worldwide, ultimately with the aim of feeding an ever-growing population. Further investigations, common for human IVF embryos, thus have priority to improve cattle IVF, as has screening for aneuploidy (abnormal chromosome number). Although the incidence and consequences of aneuploidy are well documented in human preimplantation embryos, they are less well known for the embryos of other animals. To address this, we assessed aneuploidy levels in thirty-one 2-cell bovine embryos derived from early- and late-cleaving zygotes...
December 2, 2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27904152/mitochondrial-dna-diversity-of-present-day-aboriginal-australians-and-implications-for-human-evolution-in-oceania
#6
Nano Nagle, Kaye N Ballantyne, Mannis van Oven, Chris Tyler-Smith, Yali Xue, Stephen Wilcox, Leah Wilcox, Rust Turkalov, Roland A H van Oorschot, Sheila van Holst Pellekaan, Theodore G Schurr, Peter McAllister, Lesley Williams, Manfred Kayser, R John Mitchell
Aboriginal Australians are one of the more poorly studied populations from the standpoint of human evolution and genetic diversity. Thus, to investigate their genetic diversity, the possible date of their ancestors' arrival and their relationships with neighboring populations, we analyzed mitochondrial DNA (mtDNA) diversity in a large sample of Aboriginal Australians. Selected mtDNA single-nucleotide polymorphisms and the hypervariable segment haplotypes were analyzed in 594 Aboriginal Australians drawn from locations across the continent, chiefly from regions not previously sampled...
December 1, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27904151/phylogenetic-and-population-based-approaches-to-mitogenome-variation-do-not-support-association-with-male-infertility
#7
Alberto Gómez-Carballa, Jacobo Pardo-Seco, Federico Martinón-Torres, Antonio Salas
Infertility has a complex multifactorial etiology and a high prevalence worldwide. Several studies have pointed to variation in the mitochondrial DNA (mtDNA) molecule as a factor responsible for the different disease phenotypes related to infertility. We analyzed 53 mitogenomes of infertile males from Galicia (northwest Spain), and these haplotypes were meta-analyzed phylogenetically with 43 previously reported from Portugal. Taking advantage of the large amount of information available, we additionally carried out association tests between patient mtDNA single-nucleotide polymorphisms (mtSNPs) and haplogroups against Iberian matched controls retrieved from The 1000 Genomes Project and the literature...
December 1, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27899581/hmtdb-2016-data-update-a-better-performing-query-system-and-human-mitochondrial-dna-haplogroup-predictor
#8
Rosanna Clima, Roberto Preste, Claudia Calabrese, Maria Angela Diroma, Mariangela Santorsola, Gaetano Scioscia, Domenico Simone, Lishuang Shen, Giuseppe Gasparre, Marcella Attimonelli
The HmtDB resource hosts a database of human mitochondrial genome sequences from individuals with healthy and disease phenotypes. The database is intended to support both population geneticists as well as clinicians undertaking the task to assess the pathogenicity of specific mtDNA mutations. The wide application of next-generation sequencing (NGS) has provided an enormous volume of high-resolution data at a low price, increasing the availability of human mitochondrial sequencing data, which called for a cogent and significant expansion of HmtDB data content that has more than tripled in the current release...
November 28, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27899487/glomerular-endothelial-mitochondrial-dysfunction-is-essential-and-characteristic-of-diabetic-kidney-disease-susceptibility
#9
Ilse Daehn, Haiying Qi, Gabriella Casalena, Shaolin Shi, Liping Yu, Kerstin Ebefors, Yezhou Sun, Weijia Zhang, Vivette D'Agati, Detlef Schlondorff, Börje Haraldsson, Erwin Böttinger
The molecular signaling mechanisms between glomerular cell types during initiation/progression of diabetic kidney disease (DKD) remain poorly understood. We compared the early transcriptome profile between DKD resistant C57BL/6J (B6) and DKD susceptible DBA/2J (D2) glomeruli, and demonstrated a significant down regulation of essential mitochondrial genes in glomeruli from diabetic D2 mice, but not in B6 with comparable hyperglycemia. Diabetic D2 mice manifested increased mtDNA lesions (8-oxoG), exclusively localized to glomerular endothelial cells after 3 weeks of diabetes and these accumulated over time as well as increased urine secretion of 8-oxodG...
November 29, 2016: Diabetes
https://www.readbyqxmd.com/read/27897204/human-mitochondrial-transcriptional-factor-a-breaks-the-mitochondria-mediated-vicious-cycle-in-alzheimer-s-disease
#10
Sugako Oka, Julio Leon, Kunihiko Sakumi, Tomomi Ide, Dongchon Kang, Frank M LaFerla, Yusaku Nakabeppu
In the mitochondria-mediated vicious cycle of Alzheimer's disease (AD), intracellular amyloid β (Aβ) induces mitochondrial dysfunction and reactive oxygen species, which further accelerate Aβ accumulation. This vicious cycle is thought to play a pivotal role in the development of AD, although the molecular mechanism remains unclear. Here, we examined the effects of human mitochondrial transcriptional factor A (hTFAM) on the pathology of a mouse model of AD (3xTg-AD), because TFAM is known to protect mitochondria from oxidative stress through maintenance of mitochondrial DNA (mtDNA)...
November 29, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27881060/mtdna-damage-associated-with-mitochondrial-cytopathies
#11
Anastasia I Ryzhkova, Alexandra A Melnichenko, Zukhra B Khasanova, Andrey V Zhelankin, Konstantin Y Mitrofanov, Anton Yu Postnov, Alexander N Orekhov, Igor A Sobenin
Mitochondrial cytopathies are a group of diseases which occur in case of disturbance of the functional activity of mitochondria. Mitochondrial diseases are a heterogeneous group of multiple organ pathologies, mainly affecting the nervous and muscular systems. The causes of mitochondrial cytopathies may be nuclear genome mutations occurring in genes coding mitochondrial proteins and mitochondrial genome mutations which occur sporadically or maternally inherited. At the present time many factors leading to the occurrence of mutations are known...
November 23, 2016: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/27880778/colonizing-the-high-arctic-mitochondrial-dna-reveals-common-origin-of-eurasian-archipelagic-reindeer-rangifer-tarandus
#12
Kjersti S Kvie, Jan Heggenes, David G Anderson, Marina V Kholodova, Taras Sipko, Ivan Mizin, Knut H Røed
In light of current debates on global climate change it has become important to know more on how large, roaming species have responded to environmental change in the past. Using the highly variable mitochondrial control region, we revisit theories of Rangifer colonization and propose that the High Arctic archipelagos of Svalbard, Franz Josef Land, and Novaia Zemlia were colonized by reindeer from the Eurasian mainland after the last glacial maximum. Comparing mtDNA control region sequences from the three Arctic archipelagos showed a strong genetic connection between the populations, supporting a common origin in the past...
2016: PloS One
https://www.readbyqxmd.com/read/27874000/defective-mitochondrial-dna-homeostasis-in-the-substantia-nigra-in-parkinson-disease
#13
Christian Dölle, Irene Flønes, Gonzalo S Nido, Hrvoje Miletic, Nelson Osuagwu, Stine Kristoffersen, Peer K Lilleng, Jan Petter Larsen, Ole-Bjørn Tysnes, Kristoffer Haugarvoll, Laurence A Bindoff, Charalampos Tzoulis
Increased somatic mitochondrial DNA (mtDNA) mutagenesis causes premature aging in mice, and mtDNA damage accumulates in the human brain with aging and neurodegenerative disorders such as Parkinson disease (PD). Here, we study the complete spectrum of mtDNA changes, including deletions, copy-number variation and point mutations, in single neurons from the dopaminergic substantia nigra and other brain areas of individuals with Parkinson disease and neurologically healthy controls. We show that in dopaminergic substantia nigra neurons of healthy individuals, mtDNA copy number increases with age, maintaining the pool of wild-type mtDNA population in spite of accumulating deletions...
November 22, 2016: Nature Communications
https://www.readbyqxmd.com/read/27867381/a-critical-reappraisal-of-neutrophil-extracellular-traps-and-netosis-mimics-based-on-differential-requirements-for-protein-citrullination
#14
Maximilian F Konig, Felipe Andrade
NETosis, an antimicrobial form of neutrophil cell death, is considered a primary source of citrullinated autoantigens in rheumatoid arthritis (RA) and immunogenic DNA in systemic lupus erythematosus (SLE). Activation of the citrullinating enzyme peptidylarginine deiminase type 4 (PAD4) is believed to be essential for neutrophil extracellular trap (NET) formation and NETosis. PAD4 is therefore viewed as a promising therapeutic target to inhibit the formation of NETs in both diseases. In this review, we examine the evidence for PAD4 activation during NETosis and provide experimental data to suggest that protein citrullination is not a universal feature of NETs...
2016: Frontiers in Immunology
https://www.readbyqxmd.com/read/27858145/role-of-antioxidants-in-prevention-of-age-related-hearing-loss-a-review-of-literature
#15
REVIEW
Elham Tavanai, Ghassem Mohammadkhani
Age-related hearing loss (ARHL), also known as presbycusis, is one of the most prevalent chronic degenerative conditions. It is characterized by a decline in auditory function. ARHL is caused by the interaction of multiple factors, including cochlear aging, environment, genetic predisposition, and health comorbidities. The primary pathology of ARHL includes the hair cells loss, stria vascularis atrophy, and loss of spiral ganglion neurons as well as the changes in central auditory pathways. The research to date suggests that oxidative stress and mitochondrial DNA deletion (mtDNA) play a major role in pathophysiology of ARHL...
November 17, 2016: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/27855611/cybrid-models-of-pathological-cell-processes-in-different-diseases
#16
Margarita A Sazonova, Vasily V Sinyov, Anastasia I Ryzhkova, Elena V Galitsyna, Tatiana P Shkurat, Alexandra A Melnichenko, Natalya A Demakova, Anton Yu Postnov, Igor A Sobenin, Alexander N Orekhov
Modelling of pathological processes in cells is one of the most sought-after technologies of the 21st century. Using models of such processes may help to study the pathogenetic mechanisms of various diseases. The aim of the present study was to analyse the literature, dedicated to obtaining and investigating cybrid models. Besides, the possibility of modeling pathological processes in cells and treatment of different diseases using the models was evaluated. Methods of obtaining rho0-cell cultures showed that, during their creation, mainly a standard technique, based on the use of mtDNA replication inhibitors (ethidium bromide), was applied...
November 18, 2016: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/27847334/investigating-leber-s-hereditary-optic-neuropathy-cell-models-and-future-perspectives
#17
REVIEW
Elona Jankauskaitė, Ewa Bartnik, Agata Kodroń
Leber's hereditary optic neuropathy (LHON) was the first human disease found to be associated with a mitochondrial DNA (mtDNA) point mutation. The most common LHON mutations are 11778G>A, 3460G>A or 14484T>C. The most common clinical features of LHON are optic nerve and retina atrophy. The affected tissue is not available for studies, therefore a variety of other cell types are used. However, all models face difficulties and limitations in mitochondrial disease research. The advantages and disadvantages of different cell models used to study LHON, recent advances in animal model generation and novel approaches in this field are discussed...
November 12, 2016: Mitochondrion
https://www.readbyqxmd.com/read/27847329/the-genetic-profile-of-susceptibility-to-infectious-diseases-in-roman-period-populations-from-central-poland
#18
Magda Lewandowska, Krystyna Jędrychowska-Dańska, Alicja Zamerska, Tomasz Płoszaj, Henryk W Witas
For thousands of years human beings have resisted life-threatening pathogens. This ongoing battle is considered to be the major force shaping our gene pool as every micro-evolutionary process provokes specific shifts in the genome, both that of the host and the pathogen. Past populations were more susceptible to changes in allele frequencies not only due to selection pressure, but also as a result of genetic drift, migration and inbreeding. In the present study we have investigated the frequency of five polymorphisms within innate immune-response genes (SLC11A1 D543N, MBL2 G161A, P2RX7 A1513C, IL10 A-1082G, TLR2 -196 to -174 ins/del) related to susceptibility to infections in humans...
November 12, 2016: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/27845271/characterizing-the-mitochondrial-dna-polymerase-gamma-interactome-by-bioid-identifies-ruvbl2-localizes-to-the-mitochondria
#19
Sanduni U Liyanage, Etienne Coyaud, Estelle M N Laurent, Rose Hurren, Neil Maclean, Stuart R Wood, Lawrence Kazak, Aisha Shamas-Din, Ian Holt, Brian Raught, Aaron Schimmer
Human mitochondrial DNA (mtDNA) is replicated by the mitochondrial DNA polymerase gamma (POLG). Using proximity dependent biotin labelling (BioID), we characterized the POLG interactome and identified new interaction partners involved in mtDNA maintenance, transcription, translation and protein quality control. We also identified interaction with the nuclear AAA+ ATPase Ruvbl2, suggesting mitochondrial localization for this protein. Ruvbl2 was detected in mitochondria-enriched fractions in leukemic cells. Additionally, transgenic overexpression of Ruvbl2 from an alternative translation initiation site resulted in mitochondrial co-localization...
November 11, 2016: Mitochondrion
https://www.readbyqxmd.com/read/27832758/carriers-of-human-mitochondrial-dna-macrohaplogroup-m-colonized-india-from-southeastern-asia
#20
Patricia Marrero, Khaled K Abu-Amero, Jose M Larruga, Vicente M Cabrera
BACKGROUND: From a mtDNA dominant perspective, the exit from Africa of modern humans to colonize Eurasia occurred once, around 60 kya, following a southern coastal route across Arabia and India to reach Australia short after. These pioneers carried with them the currently dominant Eurasian lineages M and N. Based also on mtDNA phylogenetic and phylogeographic grounds, some authors have proposed the coeval existence of a northern route across the Levant that brought mtDNA macrohaplogroup N to Australia...
November 10, 2016: BMC Evolutionary Biology
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