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https://www.readbyqxmd.com/read/28651360/novel-reproductive-technologies-to-prevent-mitochondrial-disease
#1
Lyndsey Craven, Mao-Xing Tang, Gráinne S Gorman, Petra De Sutter, Björn Heindryckx
BACKGROUND: The use of nuclear transfer (NT) has been proposed as a novel reproductive treatment to overcome the transmission of maternally-inherited mitochondrial DNA (mtDNA) mutations. Pathogenic mutations in mtDNA can cause a wide-spectrum of life-limiting disorders, collectively known as mtDNA disease, for which there are currently few effective treatments and no known cures. The many unique features of mtDNA make genetic counselling challenging for women harbouring pathogenic mtDNA mutations but reproductive options that involve medical intervention are available that will minimize the risk of mtDNA disease in their offspring...
June 23, 2017: Human Reproduction Update
https://www.readbyqxmd.com/read/28650878/leber-hereditary-optic-neuropathy-bridging-the-translational-gap
#2
Neringa Jurkute, Patrick Yu-Wai-Man
PURPOSE OF REVIEW: Leber hereditary optic neuropathy (LHON) is the most common primary mitochondrial DNA (mtDNA) genetic disorder in the population. We address the clinical evolution of the disease, the secondary etiological factors that could contribute to visual loss, and the challenging task of developing effective treatments. RECENT FINDINGS: LHON is characterized by a preclinical phase that reflects retinal ganglion cell (RGC) dysfunction before rapid visual deterioration ensues...
June 24, 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28649355/resequencing-and-comparison-of-whole-mitochondrial-genome-to-gain-insight-into-the-evolutionary-status-of-the-shennongjia-golden-snub-nosed-monkey-snj-r-roxellana
#3
Yanyun Hong, Hairui Duo, Juyun Hong, Jinyuan Yang, Shiming Liu, Lianghui Yu, Tuyong Yi
Shennongjia Rhinopithecus roxellana (SNJ R. roxellana) is the smallest geographical population of R. roxellana. The phylogenetic relationships among its genera and species and the biogeographic processes leading to their current distribution are largely unclear. To address these issues, we resequenced and obtained a new, complete mitochondrial genome of SNJ R. roxellana by next-generation sequencing and standard Sanger sequencing. We analyzed the gene composition, constructed a phylogenetic tree, inferred the divergence ages based on complete mitochondrial genome sequences, and analyzed the genetic divergence of 13 functional mtDNA genes...
June 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/28649351/new-insights-into-the-genetic-composition-and-phylogenetic-relationship-of-wolves-and-dogs-in-the-iberian-peninsula
#4
Ana Elisabete Pires, Isabel R Amorim, Carla Borges, Fernanda Simões, Tatiana Teixeira, Andreia Quaresma, Francisco Petrucci-Fonseca, José Matos
This study investigates the gene pool of Portuguese autochthonous dog breeds and their wild counterpart, the Iberian wolf subspecies (Canis lupus signatus), using standard molecular markers. A combination of paternal and maternal molecular markers was used to investigate the genetic composition, genetic differentiation and genetic relationship of native Portuguese dogs and the Iberian wolf. A total of 196 unrelated dogs, including breed and village dogs from Portugal, and other dogs from Spain and North Africa, and 56 Iberian wolves (wild and captive) were analyzed for nuclear markers, namely Y chromosome SNPs, Y chromosome STR loci, autosomal STR loci, and a mitochondrial fragment of the control region I...
June 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/28649344/historical-demography-and-genetic-differentiation-of-the-giant-freshwater-prawn-macrobrachium-rosenbergii-in-bangladesh-based-on-mitochondrial-and-ddrad-sequence-variation
#5
M M Mahbub Alam, Kristen M Westfall, Snæbjörn Pálsson
Macrobrachium rosenbergii, the giant freshwater prawn, is an important source of high quality protein and occurs naturally in rivers as well as commercial farms in South and South-East Asia, including Bangladesh. This study investigated the genetic variation and population structure of M. rosenbergii sampled from four rivers in Bangladesh (sample size ranged from 19 to 20), assessing sequence variation, both in the mitochondrial cytochrome oxidase subunit 1 (CO1) gene and in 106 single nucleotide polymorphisms (SNPs) sampled randomly from the genome with double digest RAD sequencing (ddRADseq)...
June 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/28649287/regulating-role-of-fetal-thyroid-hormones-on-placental-mitochondrial-dna-methylation-epidemiological-evidence-from-the-environage-birth-cohort-study
#6
Bram G Janssen, Hyang-Min Byun, Harry A Roels, Wilfried Gyselaers, Joris Penders, Andrea A Baccarelli, Tim S Nawrot
BACKGROUND: Fetal development largely depends on thyroid hormone availability and proper placental function with an important role played by placental mitochondria. The biological mechanisms by which thyroid hormones exert their effects on mitochondrial function are not well understood. We investigated the role of fetal thyroid hormones on placental mitochondrial DNA (mtDNA) content and mtDNA methylation. We collected placental tissue and cord blood from 305 mother-child pairs that were enrolled between February 2010 and June 2014 in the ENVIRONAGE (ENVIRonmental influence ON early AGEing) birth cohort (province of Limburg, Belgium)...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28649148/origins-and-genetic-diversity-of-introduced-populations-of-the-puerto-rican-red-eyed-coqu%C3%A3-eleutherodactylus-antillensis-in-saint-croix-u-s-virgin-islands-and-panam%C3%A3
#7
Brittany S Barker, Javier A Rodríguez-Robles
The Red-eyed Coquí, Eleutherodactylus antillensis, is a terrestrial frog endemic to the Puerto Rican Bank (Puerto Rico and numerous islands and cays off its eastern coast), in the eastern Caribbean Sea. The species was likely introduced in Saint Croix, an island c. 100 km southeast of Puerto Rico, in the late 1930s, and in Panamá City, Panamá, in the late 1950s or early 1960s, but the source(s) of these introductions are unknown. We analyzed sequence data from one mtDNA locus and four nuDNA introns to infer the origin(s) of the Saint Croix and Panamá City populations and quantify their genetic diversity...
July 2017: Copeia
https://www.readbyqxmd.com/read/28649007/polypharmacy-and-sun-exposure-implications-for-mitochondrial-dna-deletions-in-skin
#8
Julia Montelin Powers, Gillian Murphy, Nikki Ralph, Susan M O'Gorman, James E J Murphy
Most somatic cells contain many copies of mitochondrial DNA (mtDNA). Because of both the high copy number and the lack of repair mechanisms available to mtDNA, damage to it largely goes unrepaired, and can accumulate over time. Large scale deletions are a recognised type of damage sustained by mtDNA as a consequence of exposure to the ultraviolet light in sunlight. A group of patients were identified as having abnormally high levels of either a 4977 base pair deletion (mtDNA(4977)) or 3895 base pair deletion (mtDNA(3895)), in mtDNA from sun exposed skin or skin suspected to be a non-melanoma skin cancer, but not in their non-sun exposed skin biopsies...
June 17, 2017: Journal of Photochemistry and Photobiology. B, Biology
https://www.readbyqxmd.com/read/28648514/neurological-phenotypes-in-spinocerebellar-ataxia-type-2-role-of-mitochondrial-polymorphism-a10398g-and-other-risk-factors
#9
Thais Lampert Monte, Fernanda Santos Pereira, Estela da Rosa Reckziegel, Marina Coutinho Augustin, Lucas Dorídio Locks-Coelho, Amanda Senna P Santos, José Luiz Pedroso, Orlando Barsottini, Fernando Regla Vargas, Maria-Luiza Saraiva-Pereira, Laura Bannach Jardim
BACKGROUND: Spinocerebellar ataxia type 2 (SCA2) is due to a CAG expansion (CAGexp) at ATXN2. SCA2 presents great clinical variability, alongside characteristic ataxia with saccadic slowness. AIMS: To study parkinsonism, dementia, dystonia, and amyotrophy as subphenotypes of SCA2, and to explore the effect of CAG repeats at different loci and of mitochondrial polymorphism A10398G as modifiers of phenotype. METHODS: Symptomatic subjects were classified by presence/absence of neurological signs mentioned above; SARA and NESSCA scores were obtained...
June 19, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28647451/association-of-mitochondrial-dna-in-peripheral-blood-with-depression-anxiety-and-stress-and-adjustment-disorders-in-primary-health-care-patients
#10
Xiao Wang, Kristina Sundquist, Hamideh Rastkhani, Karolina Palmér, Ashfaque A Memon, Jan Sundquist
Mitochondrial dysfunction may result in a variety of diseases. The objectives here were to examine possible differences in mtDNA copy number between healthy controls and patients with depression, anxiety or stress- and adjustment disorders; the association between mtDNA copy number and disease severity at baseline; and the association between mtDNA copy number and response after an 8-week treatment (mindfulness, cognitive based therapy). A total of 179 patients in primary health care (age 20-64 years) with depression, anxiety and stress- and adjustment disorders, and 320 healthy controls (aged 19-70 years) were included in the study...
June 21, 2017: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28646879/discovery-of-a-single-male-aedes-aegypti-l-in-merseyside-england
#11
Thom Dallimore, Tony Hunter, Jolyon M Medlock, Alexander G C Vaux, Ralph E Harbach, Clare Strode
BACKGROUND: The mosquito Aedes aegypti (L.) is found in tropical and sub-tropical regions where it is the major vector of dengue fever, yellow fever, chikungunya and more recently Zika virus. Given its importance as a vector of arboviruses and its propensity to be transported to new regions, the European Centre for Disease Prevention and Control (ECDC) has placed Ae. aegypti on a list of potentially invasive mosquito species. It was previously reported in the United Kingdom (UK) in 1865 and 1919 but did not establish on either occasion...
June 24, 2017: Parasites & Vectors
https://www.readbyqxmd.com/read/28646188/mitochondrial-haplotypes-influence-metabolic-traits-across-bovine-inter-and-intra-species-cybrids
#12
Jikun Wang, Hai Xiang, Langqing Liu, Minghua Kong, Tao Yin, Xingbo Zhao
In bovine species, mitochondrial DNA polymorphisms and their correlation to productive or reproductive performances have been widely reported across breeds and individuals. However, experimental evidence of this correlation has never been provided. In order to identify differences among bovine mtDNA haplotypes, transmitochondrial cybrids were generated, with the nucleus from MAC-T cell line, derived from a Holstein dairy cow (Bos taurus) and mitochondria from either primary cell line derived from a domestic Chinese native beef Luxi cattle breed or central Asian domestic yak (Bos grunniens)...
June 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28645767/assessing-the-potential-of-rad-sequencing-to-resolve-phylogenetic-relationships-within-species-radiations-the-fly-genus-chiastocheta-diptera-anthomyiidae-as-a-case-study
#13
Tomasz Suchan, Anahí Espíndola, Sereina Rutschmann, Brent C Emerson, Kevin Gori, Christophe Dessimoz, Nils Arrigo, Michał Ronikier, Nadir Alvarez
Determining phylogenetic relationships among recently diverged species has long been a challenge in evolutionary biology. Cytoplasmic markers, which have been widely used notably in the context of molecular barcoding, have not always proved successful in resolving such phylogenies, but phylogenies for closely related species have been resolved at a much higher detail in the last couple of years with the advent of next-generation-sequencing technologies and associated techniques of reduced genome representation...
June 20, 2017: Molecular Phylogenetics and Evolution
https://www.readbyqxmd.com/read/28643630/molecular-phylogeny-of-42-species-of-culicoides-diptera-ceratopogonidae-from-three-continents
#14
Denis Augot, Bruno Mathieu, Leila Hadj-Henni, Véronique Barriel, Sonia Zapata Mena, Sylvia Smolis, Darine Slama, Fano José Randrianambinintsoa, Gabriel Trueba, Matthieu Kaltenbach, Nil Rahola, Jérôme Depaquit
The genus Culicoides includes vectors of important animal diseases such as bluetongue and Schmallenberg virus (BTV and SBV). This genus includes 1300 species classified in 32 subgenera and 38 unclassified species. However, the phylogenetic relationships between different subgenera of Culicoides have never been studied. Phylogenetic analyses of 42 species belonging to 12 subgenera and 8 ungrouped species of genus Culicoides from Ecuador, France, Gabon, Madagascar and Tunisia were carried out using two molecular markers (28S rDNA D1 and D2 domains and COI mtDNA)...
2017: Parasite: Journal de la Société Française de Parasitologie
https://www.readbyqxmd.com/read/28641368/glomerular-hyperfiltration-in-obese-african-american-hypertensive-patients-is-associated-with-elevated-urinary-mitochondrial-dna-copy-number
#15
Alfonso Eirin, Ahmed Saad, John R Woollard, Luis A Juncos, David A Calhoun, Hui Tang, Amir Lerman, Stephen C Textor, Lilach O Lerman
BACKGROUND: Glomerular hyperfiltration may contribute to the high incidence of renal disease in Obese African Americans essential hypertensive (ObAAEH) patients, but the precise mechanisms responsible for renal injury have not been elucidated. Mitochondria are important determinants of renal injury in hypertension, and increased levels of mitochondrial DNA (mtDNA) in the urine may indicate renal mitochondrial injury. We hypothesized that urine mtDNA copy numbers would be higher in ObAAEH compared to Caucasian essential hypertensive (CEH) patients...
June 14, 2017: American Journal of Hypertension
https://www.readbyqxmd.com/read/28640391/selective-sweeps-of-mitochondrial-dna-can-drive-the-evolution-of-uniparental-inheritance
#16
Joshua R Christie, Madeleine Beekman
While the uniparental (or maternal) inheritance of mitochondrial DNA (mtDNA) is widespread, the reasons for its evolution remain unclear. Two main hypotheses have been proposed: selection against individuals containing different mtDNAs (heteroplasmy) and selection against "selfish" mtDNA mutations. Recently, uniparental inheritance was shown to promote adaptive evolution in mtDNA, potentially providing a third hypothesis for its evolution. Here we explore this hypothesis theoretically and ask if the accumulation of beneficial mutations provides a sufficient fitness advantage for uniparental inheritance to invade a population in which mtDNA is inherited biparentally...
June 22, 2017: Evolution; International Journal of Organic Evolution
https://www.readbyqxmd.com/read/28639102/the-clinical-and-genetic-characteristics-in-children-with-mitochondrial-disease-in-china
#17
Fang Fang, Zhimei Liu, Hezhi Fang, Jian Wu, Danmin Shen, Suzhen Sun, Changhong Ding, Tongli Han, Yun Wu, Junlan Lv, Lei Yang, Shufang Li, Jianxin Lv, Ying Shen
Mitochondrial disease was a clinically and genetically heterogeneous group of diseases, thus the diagnosis was very difficult to clinicians. Our objective was to analyze clinical and genetic characteristics of children with mitochondrial disease in China. We tested 141 candidate patients who have been suspected of mitochondrial disorders by using targeted next-generation sequencing (NGS), and summarized the clinical and genetic data of gene confirmed cases from Neurology Department, Beijing Children's Hospital, Capital Medical University from October 2012 to January 2015...
June 16, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28637254/phylogeography-of-lionfishes-pterois-indicate-taxonomic-over-splitting-and-hybrid-origin-of-the-invasive-pterois-volitans
#18
Christie L Wilcox, Hiroyuki Motomura, Mizuki Matsunuma, Brian W Bowen
The lionfish is an iconic marine fish, and recently renowned for a disastrous introduction into the West Atlantic. Genetic surveys of the putative invaders (Pterois volitans and P. miles) in their natural Indo-Pacific range can illuminate both topics. Previous research indicated that P. volitans and P. miles are sister species that hybridize in the invasive range, but hybridization in the native range is unknown. Here we apply mtDNA COI and two nuclear introns (S7 RP1 and Gpd2) from 229 lionfish including the two invaders and two closely-related taxa (44 P...
June 16, 2017: Journal of Heredity
https://www.readbyqxmd.com/read/28637217/experimental-support-that-natural-selection-has-shaped-the-latitudinal-distribution-of-mitochondrial-haplotypes-in-australian-drosophila-melanogaster
#19
M Florencia Camus, Jonci N Wolff, Carla M Sgrò, Damian K Dowling
Cellular metabolism is regulated by enzyme complexes within the mitochondrion, the function of which are sensitive to the prevailing temperature. Such thermal sensitivity, coupled with the observation that population frequencies of mitochondrial haplotypes tend to associate with latitude, altitude or climatic regions across species distributions, led to the hypothesis that thermal selection has played a role in shaping standing variation in the mitochondrial DNA (mtDNA) sequence. This hypothesis, however, remains controversial, and requires evidence that the distribution of haplotypes observed in nature corresponds with the capacity of these haplotypes to confer differences in thermal tolerance...
June 20, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/28636943/opa1-isoforms-in-the-hierarchical-organization-of-mitochondrial-functions
#20
Valentina Del Dotto, Prashant Mishra, Sara Vidoni, Mario Fogazza, Alessandra Maresca, Leonardo Caporali, J Michael McCaffery, Martina Cappelletti, Enrico Baruffini, Guy Lenaers, David Chan, Michela Rugolo, Valerio Carelli, Claudia Zanna
OPA1 is a GTPase that controls mitochondrial fusion, cristae integrity, and mtDNA maintenance. In humans, eight isoforms are expressed as combinations of long and short forms, but it is unclear whether OPA1 functions are associated with specific isoforms and/or domains. To address this, we expressed each of the eight isoforms or different constructs of isoform 1 in Opa1(-/-) MEFs. We observed that any isoform could restore cristae structure, mtDNA abundance, and energetic efficiency independently of mitochondrial network morphology...
June 20, 2017: Cell Reports
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