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1.
Beijing Da Xue Xue Bao Yi Xue Ban ; 52(5): 851-855, 2020 Oct 18.
Artigo em Chinês | MEDLINE | ID: mdl-33047718

RESUMO

OBJECTIVE: Mitochondrial deoxyribonucleic acid (mtDNA) 8344 A>G (m.8344A>G) mutation is the common mutation associated with mitochondrial myoclonus epilepsy with ragged-red fibers (MERRF) syndrome. Herein we report a rare case with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes/MERRF/Leigh (MELAS/MERRF/Leigh) overlap syndrome caused by m.8344A>G mutation. METHODS: The clinical and imaging data of the patient were collected and an open muscle biopsy was carried out. We further employed molecular genetic analyses to detect mtDNA mutation in the proband and his mother. And then a clinical and neuroimaging follow-up was performed. RESULTS: This patient was a 25-year-old male, who developed exercise intolerance since the age of 6. At age 10, he suffered from acute episodes of hemianopia, and cranial magnetic resonance imaging (MRI) showed occipital stroke-like lesions and cranial magnetic resonance spectroscopy (MRS) revealed a lactate peak corresponding to the lesion. After that the patient presented slowly progressive psychomotor decline. He had myoclonic seizures and cerebellar ataxia since the age of 12. At age 21, he was admitted to our hospital because of confusion and cranial MRI revealed symmetrical lesions in bilateral posterior putamen, thalami and midbrain. Then repeated MRI showed progression of original lesions and new frontal multiple stroke-like lesions. Symptomatic and rehabilitation treatment relieved his condition. Follow-up cranial MRI at age 24 showed the lesions in basal ganglia and thalami diminished, and the midbrain lesions even completely vanished. Muscle pathology indicated the presence of numerous scattered ragged-red fibers (RRF), suggestive of a mitochondrial disorder. Polymerase chain reaction-restricted fragment length polymorphism (PCR-RFLP) detected the m.8344A>G mutation of the MT-TK gene encoding mitochondrial transfer RNA for lysine in the patient's blood. Next generation sequencing (NGS) of the whole mitochondrial genome identified that the proportion of m.8344A>G was 90%, and no other mtDNA mutation was detected. Sanger sequencing further identified this mutation both in the proband and his mother's blood, although the mutation load was much lower in his mother's blood with approximately 10% heteroplasmy. CONCLUSION: The present study is the first to describe a patient with m.8344A>G mutation in association with the MELAS/MERRF/Leigh overlap syndrome, which expands the phenotypic spectrum of the m.8344A>G mutation.


Assuntos
Acidose Láctica , Acidente Vascular Cerebral , Adulto , Criança , DNA Mitocondrial/genética , Humanos , Masculino , Encefalomiopatias Mitocondriais , Mutação , Adulto Jovem
2.
Zootaxa ; 4821(3): zootaxa.4821.3.7, 2020 Aug 03.
Artigo em Inglês | MEDLINE | ID: mdl-33056315

RESUMO

Blastopathes medusa gen. nov., sp. nov., is described from Kimbe Bay, Papua New Guinea, based on morphological and molecular data. Blastopathes, assigned to the Antipathidae, is a large, mythology-inspiring black coral characterized by clusters of elongate stem-like branches that extend out at their base and then curve upward. Colonies are not pinnulate and contain single branches, which could represent new branch cluster formations. Morphological and molecular (mitochondrial DNA and targeted capture of nuclear loci) evidence supporting the establishment of a new genus is discussed. This is the first study to utilize the target capture of ultraconserved elements (UCEs) and exonic loci to elucidate phylogenetic relationships among black corals and to identify and place a new genus and species.


Assuntos
Antozoários , Animais , Cor , DNA Mitocondrial , Papua Nova Guiné , Filogenia
3.
Zootaxa ; 4852(1): zootaxa.4852.1.8, 2020 Sep 14.
Artigo em Inglês | MEDLINE | ID: mdl-33056713

RESUMO

The checklist by Robertson et al. (2017) of fishes from the tropical eastern Pacific included information on three members of the family Triglidae: Bellator loxias (Jordan, 1897), Prionotus ruscarius and P. stephanophrys Lockington, 1881. Unfortunately, the identification of four specimens as P. ruscarius is incorrect, as they are Bellator gymnostethus. We thank Benjamin Victor for bringing these misidentifications to our notice through his work with mtDNA sequence data from the Barcode of Life Database (BOLD: http://www.boldsystems.org). The photographs of the four specimens on the BOLD website clearly depict a Bellator species rather than a Prionotus. However, the photograph in the 2017 paper (Figure 75, page 78), is correctly identified and labelled as P. ruscarius, and this species was collected on the cruise of the Miguel Oliver discussed in Robertson et al. (2017), see Benavides Moreno et al. (2019). This correction brings the number of triglids collected on that cruise to four species.


Assuntos
Perciformes , Animais , DNA Mitocondrial , Peixes
4.
Mol Cell ; 79(5): 708-709, 2020 09 03.
Artigo em Inglês | MEDLINE | ID: mdl-32888436

RESUMO

The collaborative work of two HHMI groups, one at the University of Washington and the other at the Broad Institute of MIT and Harvard, led to the development of a novel molecular tool to edit single bases in the mtDNA (Mok et al., 2020).


Assuntos
Citidina Desaminase , DNA Mitocondrial , Sistemas CRISPR-Cas , Repetições Palindrômicas Curtas Agrupadas e Regularmente Espaçadas , Mitocôndrias/genética
5.
Nat Commun ; 11(1): 4048, 2020 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-32873779

RESUMO

Pleistocene glacial-interglacial cycles are correlated with dramatic temperature oscillations. Examining how species responded to these natural fluctuations can provide valuable insights into the impacts of present-day anthropogenic climate change. Here we present a phylogeographic study of the extinct American mastodon (Mammut americanum), based on 35 complete mitochondrial genomes. These data reveal the presence of multiple lineages within this species, including two distinct clades from eastern Beringia. Our molecular date estimates suggest that these clades arose at different times, supporting a pattern of repeated northern expansion and local extirpation in response to glacial cycling. Consistent with this hypothesis, we also note lower levels of genetic diversity among northern mastodons than in endemic clades south of the continental ice sheets. The results of our study highlight the complex relationships between population dispersals and climate change, and can provide testable hypotheses for extant species expected to experience substantial biogeographic impacts from rising temperatures.


Assuntos
Mudança Climática , Especiação Genética , Genoma Mitocondrial , Mastodontes/genética , Animais , DNA Antigo/análise , DNA Antigo/isolamento & purificação , DNA Mitocondrial/genética , DNA Mitocondrial/isolamento & purificação , Feminino , Fósseis , Masculino , Filogeografia
6.
Nat Commun ; 11(1): 4471, 2020 09 08.
Artigo em Inglês | MEDLINE | ID: mdl-32901010

RESUMO

A human cell contains hundreds to thousands of mitochondrial DNA (mtDNA) packaged into nucleoids. Currently, the segregation and allocation of nucleoids are thought to be passively determined by mitochondrial fusion and division. Here we provide evidence, using live-cell super-resolution imaging, that nucleoids can be actively transported via KIF5B-driven mitochondrial dynamic tubulation (MDT) activities that predominantly occur at the ER-mitochondria contact sites (EMCS). We further demonstrate that a mitochondrial inner membrane protein complex MICOS links nucleoids to Miro1, a KIF5B receptor on mitochondria, at the EMCS. We show that such active transportation is a mechanism essential for the proper distribution of nucleoids in the peripheral zone of the cell. Together, our work identifies an active transportation mechanism of nucleoids, with EMCS serving as a key platform for the interplay of nucleoids, MICOS, Miro1, and KIF5B to coordinate nucleoids segregation and transportation.


Assuntos
DNA Mitocondrial/metabolismo , Retículo Endoplasmático/metabolismo , Mitocôndrias/metabolismo , Dinâmica Mitocondrial/fisiologia , Animais , Transporte Biológico Ativo , Células COS , Células Cultivadas , Chlorocebus aethiops , Proteínas de Ligação a DNA/genética , Proteínas de Ligação a DNA/metabolismo , Células HEK293 , Humanos , Cinesina/metabolismo , Proteínas de Membrana Transportadoras/genética , Proteínas de Membrana Transportadoras/metabolismo , Camundongos , Membranas Mitocondriais/metabolismo , Proteínas Mitocondriais/genética , Proteínas Mitocondriais/metabolismo , Modelos Biológicos , Ratos , Receptores de Superfície Celular/genética , Receptores de Superfície Celular/metabolismo , Fatores de Transcrição/genética , Fatores de Transcrição/metabolismo , Transfecção , Proteínas rho de Ligação ao GTP/metabolismo
7.
Korean J Parasitol ; 58(4): 451-456, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32871639

RESUMO

This is a report of 2 cases of human hydatidosis caused by Echinococcus ortleppi in Vietnam. The patients were a 12-year-old male (case 1) having a cyst of 10.0×9.0 cm size in the lung and a 50-year-old female with a 3.0×3.3 cm-sized cyst in the heart. Eosinophilia was 33.7% in the male and 45.8% in the female patient. C-reactive protein was increased to 16.5 mg/L in the male and 18.2 mg/L in the female. Both patients were positive for ELISA at OD=2.5 and 3.1, respectively. Echinococcus protoscolices were collected from the cysts by amniocentesis and surgery. The protoscolices were identified as E. ortleppi by morphology and analysis of mitochondrial NADH dehydrogenase 1 (nad1) gene sequence. Both patients were cured by surgical resection of the hydatid cyst combined with albendazole medication. The E. ortleppi infection in lung is the second report, and the other in the heart is the first in Vietnam.


Assuntos
Equinococose/diagnóstico , Equinococose/parasitologia , Albendazol/uso terapêutico , Animais , Biomarcadores , Proteína C-Reativa , Criança , DNA de Helmintos/genética , DNA Mitocondrial/genética , Equinococose/cirurgia , Echinococcus/genética , Echinococcus/isolamento & purificação , Ensaio de Imunoadsorção Enzimática , Feminino , Cardiopatias , Humanos , Pneumopatias Parasitárias , Masculino , Pessoa de Meia-Idade , NADH Desidrogenase/genética , Análise de Sequência de DNA , Vietnã
8.
Elife ; 92020 09 22.
Artigo em Inglês | MEDLINE | ID: mdl-32959780

RESUMO

Experiments on mitochondrial DNA in worms highlight that cheating does not always pay off.


Assuntos
Genoma Mitocondrial , DNA Mitocondrial , Mitocôndrias/genética , Dinâmica Mitocondrial , Nutrientes
9.
Pestic Biochem Physiol ; 169: 104675, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32828362

RESUMO

Bumblebees are important for crop pollination. Currently, the number of pollinators is decreasing worldwide, which is attributed mostly to the widespread use of pesticides. The aim of this work was to develop a method for assessing the genotoxicity of pesticides for the Bombus terrestris L. bumblebee using long-range PCR of mitochondrial DNA fragments. We have developed a panel of primers and assessed the genotoxicity of the following pesticides: imidacloprid, rotenone, deltamethrin, difenocanozole, malathion, metribuzin, penconazole, esfenvalerate, and dithianon. All pesticides (except imidacloprid) inhibited mitochondrial respiration fueled by pyruvate + malate; the strongest effect was observed for rotenone and difenocanozole. Three pesticides (dithianon, rotenone, and difenocanozole) affected the rate of H2O2 production. To study the pesticide-induced DNA damage in vitro and in vivo, we used three different mtDNA. The mtDNA damage was observed for all studied pesticides. Most of the studied pesticides caused significant damage to mtDNA in vitro and in vivo when ingested. Our results indicate that all tested pesticides, including herbicides and fungicides, can have a toxic effect on pollinators. However, the extent of pesticide-induced mtDNA damage in the flight muscles was significantly less upon the contact compared to the oral administration.


Assuntos
DNA Mitocondrial , Praguicidas , Animais , Abelhas , Peróxido de Hidrogênio , Mitocôndrias , Polinização
10.
Psychiatr Danub ; 32(2): 168-175, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32796781

RESUMO

BACKGROUND: Attention deficit hyperactivity disorder (ADHD) is the most common psychiatric disorder in children. Several hypotheses have been proposed to explain its etiology. Mitochondrial dysfunction (MD) is suggested to be one of the causes of Attention Deficit Hyperactivity Disorder. The objective of the study was to evaluate the relationship between MD and ADHD by investigating mitochondrial DNA (mtDNA) levels from peripheral blood leukocytes, one of the best biomarkers of mitochondrial dysfunction. SUBJECTS AND METHODS: This study included 56 children aged 6-16 years who were diagnosed with ADHD for the first time and 56 age- and sex-matched children without ADHD. Real-time PCR was performed to determine the relative mtDNA copy number in each study participant. RESULTS: The mean mtDNA copy number of the case group was 57.623±24.827 and that of the control group was 44.204±18.926 (p=0.002). The mtDNA copy number of the case group was higher than that of the control group. Results of ROC curve analysis provided a mtDNA cutoff value of 45. CONCLUSION: Significantly higher mtDNA copy number in ADHD group may suggest mitochondrial dysfunction in the etiopathogenesis of ADHD.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Variações do Número de Cópias de DNA , DNA Mitocondrial , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/genética , Criança , Humanos , Mitocôndrias , Reação em Cadeia da Polimerase em Tempo Real
11.
Nat Commun ; 11(1): 3868, 2020 08 03.
Artigo em Inglês | MEDLINE | ID: mdl-32747648

RESUMO

Archaeological research documents major technological shifts among people who have lived in the southern tip of South America (South Patagonia) during the last thirteen millennia, including the development of marine-based economies and changes in tools and raw materials. It has been proposed that movements of people spreading culture and technology propelled some of these shifts, but these hypotheses have not been tested with ancient DNA. Here we report genome-wide data from 20 ancient individuals, and co-analyze it with previously reported data. We reveal that immigration does not explain the appearance of marine adaptations in South Patagonia. We describe partial genetic continuity since ~6600 BP and two later gene flows correlated with technological changes: one between 4700-2000 BP that affected primarily marine-based groups, and a later one impacting all <2000 BP groups. From ~2200-1200 BP, mixture among neighbors resulted in a cline correlated to geographic ordering along the coast.


Assuntos
DNA Antigo/análise , Fósseis , Fluxo Gênico , Genoma Humano/genética , Migração Humana , Arqueologia/métodos , Argentina , Osso e Ossos/metabolismo , Chile , DNA Mitocondrial/classificação , DNA Mitocondrial/genética , Variação Genética , Geografia , Humanos , Filogenia , Datação Radiométrica/métodos , Análise de Sequência de DNA/métodos , Dente/metabolismo
12.
PLoS Negl Trop Dis ; 14(8): e0008480, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32813714

RESUMO

Clonorchiasis is a neglected tropical disease caused by the Chinese liver fluke, Clonorchis sinensis, and is often associated with a malignant form of bile duct cancer (cholangiocarcinoma). Although some aspects of the epidemiology of clonorchiasis are understood, little is known about the genetics of C. sinensis populations. Here, we conducted a comprehensive genetic exploration of C. sinensis from endemic geographic regions using complete mitochondrial protein gene sets. Genomic DNA samples from C. sinensis individuals (n = 183) collected from cats and dogs in China (provinces of Guangdong, Guangxi, Hunan, Heilongjiang and Jilin) as well as from rats infected with metacercariae from cyprinid fish from the Russian Far East (Primorsky Krai region) were deep sequenced using the BGISEQ-500 platform. Informatic analyses of mitochondrial protein gene data sets revealed marked genetic variation within C. sinensis; significant variation was identified within and among individual worms from distinct geographical locations. No clear affiliation with a particular location or host species was evident, suggesting a high rate of dispersal of the parasite across endemic regions. The present work provides a foundation for future biological, epidemiological and ecological studies using mitochondrial protein gene data sets, which could aid in elucidating associations between particular C. sinensis genotypes/haplotypes and the pathogenesis or severity of clonorchiasis and its complications (including cholangiocarcinoma) in humans.


Assuntos
Clonorquíase/parasitologia , Clonorchis sinensis/genética , DNA Mitocondrial/genética , Variação Genética , Animais , China/epidemiologia , Clonorquíase/epidemiologia , Haploidia , Interações Hospedeiro-Parasita , Humanos , Filogenia , Federação Russa/epidemiologia
13.
Water Res ; 183: 116085, 2020 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-32750535

RESUMO

Human mitochondrial DNA provides a promising target for fecal source tracking because it is unique and intrinsic to humans. We developed a TaqMan chemistry assay, hCYTB484, targeting the cytochrome b gene of the human mitochondrial genome on a droplet digital PCR (ddPCR) platform and compared the performance of hCYTB484 with the HF183/BacR287 assay, a widely used assay targeting human-associated Bacteroides. For both assays, we defined the analytical limit of detection and analytical lower limit of quantification using frequency of detection and imprecision goals, respectively. We then established these analytical limits using empirical ddPCR data, presenting a novel approach to determining the analytical lower limit of quantification. We evaluated assay sensitivity using individual human feces from US, Bangladesh, and Mozambique and evaluated assay specificity using cow, pig, chicken, and goat samples collected from the US. To compare assay performance across a range of thresholds, we utilized receiver operating characteristic curves. The hCYTB484 marker was detected and quantifiable in 100% of the human feces from the 3 geographical distant regions whereas the HF183/BacR287 marker was detectable and quantifiable in 51% and 31% (respectively) of human feces samples. The hCYTB484 marker also was more specific (97%), having fewer detections in pig, chicken, and goat samples than the HF183/BacR287 marker (80%). The higher performance of the hCYTB484 marker in individual feces from geographically distant regions is desirable in the detection of fecal pollution from sources to which fewer individuals contribute, such as the non-sewered forms of sanitation (e.g. pit latrines and septic tanks) that serve most of Earth's population and carry the highest risk of exposure to fecal-oral pathogens.


Assuntos
Bacteroides/genética , DNA Mitocondrial , Animais , Bangladesh , Bovinos , Monitoramento Ambiental , Fezes , Feminino , Humanos , Reação em Cadeia da Polimerase , Suínos , Microbiologia da Água , Poluição da Água/análise
14.
PLoS One ; 15(8): e0238049, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32834019

RESUMO

Genetics of pigs has been well studied in Europe and Asia, but most of previous studies of molecular phylogeny of Sus scrofa have been based on sequences of both wild and domestic forms. In this study we analysed genetic traits of Sus scrofa from 13 regions in Asia (including previously undisclosed Eastern Caucasus and Trans-Baikal regions) using purely wild boar samples. Mitochondrial control region and Y-chromosome genes (AMELY & USP9Y) were employed to resolve phylogeographic relationships. We discussed spatio-temporal dynamics of wild boar distribution and compared molecular data to morphological and cytogenetic data on wild boar variability and taxonomy. A total of 51 haplotypes were detected in mtDNA control region and five haplotypes were found in combined sequences of Y-chromosome genes. The phylogeography of Asia-wide wild boars supported a hypothesis of migration from South-East Asia to South Asia, followed by migration to East and West Asia. We present a hypothesis about independent dispersal of wild boars into West Asia from South and North-East Asia. Mitochondrial DNA phylogeny generally fits the morphologically based intraspecies taxonomy. Distribution of chromosomal variants of wild boar presently does not show clear correlation with mtDNA clades.


Assuntos
DNA Mitocondrial/genética , Filogeografia , Sus scrofa/genética , Cromossomo Y/genética , Animais , Ásia , Variação Genética
15.
Parasitol Res ; 119(10): 3255-3283, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32856113

RESUMO

Seven new species of Urocleidoides from the gills and skin of nine Neotropical fish hosts (Anostomidae, Parodontidae, and Gymnotidae) are described: Urocleidoides digitabulum n. sp. on Leporinus friderici, Leporinus octofasciatus, and Megaleporinus elongatus (Anostomidae); Urocleidoides solarivaginatus n. sp. on L. friderici, L. octofasciatus, and Leporinus striatus (Anostomidae); Urocleidoides falxus n. sp. and Urocleidoides sapucaiensis n. sp. on M. elongatus; Urocleidoides tenuis n. sp. on Apareiodon piracicabae and Apareiodon affinis (Parodontidae); Urocleidoides sinus n. sp. on L. striatus, Schizodon nasutus, and Schizodon intermedius (Anostomidae); and Urocleidoides uncinus n. sp. on Gymnotus sylvius (Gymnotidae). Urocleidoides paradoxus was also found in this study on L. friderici and included in the phylogenetic analysis. Molecular data (partial 28S rDNA and mitochondrial cytochrome oxidase subunit I) were obtained for U. digitabulum n. sp., U. tenuis n. sp., U. sinus n. sp., and U. uncinus n. sp. The identification of Urocleidoides is amended herein to include all taxonomic modifications observed in this genus over time and add new characteristics observed in the species in the present study. Phylogenetic analysis revealed Urocleidoides digitabulum n. sp. and Urocleidoides sinus n. sp. (parasites of anostomids) closely related in the tree topologies. Furthermore, the new species described herein parasitized phylogenetically distant host species (Characiformes and Gymnotiformes), suggesting the effect of the dynamic process of ecological fitting.


Assuntos
Caraciformes/parasitologia , Gimnotiformes/parasitologia , Platelmintos/isolamento & purificação , Animais , Brasil , DNA Mitocondrial/genética , DNA Ribossômico/genética , Peixes , Brânquias/parasitologia , Especificidade de Hospedeiro , Filogenia , Platelmintos/classificação , Platelmintos/genética , RNA Ribossômico 28S/genética
16.
Parasitol Res ; 119(10): 3327-3338, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32789533

RESUMO

The evolutionary history of Acanthamoeba has been substantially resolved by the 18S rDNA phylogeny which made it possible to delimit the main lines associated with some classical species. Some of them have proven to be polyphyletic, but the inappropriate use of treating under the same names unrelated strains persists. In this study, phylogenies based on the complete genes of nuclear and mitochondrial rDNA were compared, in order to verify the congruence of the different lines. Various groups can thus be identified, some of which associated with the type strains of given species. Recognizing them only by their species names would significantly reduce the current confusion, in addition to logically following basic taxonomic rules. In this manner, the well-known polyphyletic taxa A. castellanii and A. polyphaga, are restricted to the two lines specified by their type strains, while other widely used strains like Neff and Linc-AP1 that are often confused with the previous ones, can be assigned to their own lines. New species are potentially present in other groups and additional efforts are needed to delimit them.


Assuntos
Acanthamoeba/classificação , Filogenia , Acanthamoeba/genética , Animais , DNA Mitocondrial/genética , DNA Ribossômico/genética , Genes de Protozoários/genética , Genótipo
17.
Parasitol Res ; 119(10): 3285-3296, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32812144

RESUMO

The taxonomy of Hysterothylacium genus in Mediterranean waters remains incomplete and unresolved. The aim of the current study was to investigate the morphological and molecular identification of selected species of Hysterothylacium larvae in marine fish from the Tunisian Mediterranean coasts. A total of 192 marine fish samples were examined. In total, thirty-seven third-stage larvae of Hysterothylacium were morphologically identified as Hysterothylacium type V. In the present study, representatives of this type from the Mediterranean Sea were genetically characterized for the first time by sequencing the rDNA ITS (ITS1-5.8S-ITS2) regions and mtDNA cox2 gene. This study represents the first report of Hysterothylacium type V from the Mediterranean Sea. We also report Mullus barbatus, M. surmuletus, and Pagellus erythrinus as new hosts for this larval type. Based upon molecular and phylogenetic analyses considering the rDNA ITS regions, the Hysterothylacium type V described here was classified as a new genotype, named Genotype B. The valid genetic data of the described Hysterothylacium type V in the present study can be used to establish the phylogenetic relationships among Hysterothylacium species from the Mediterranean Sea and worldwide for future research.


Assuntos
Infecções por Ascaridida/veterinária , Ascaridoidea/classificação , Ascaridoidea/crescimento & desenvolvimento , Doenças dos Peixes/parasitologia , Peixes/parasitologia , Animais , Infecções por Ascaridida/parasitologia , Ascaridoidea/anatomia & histologia , Ascaridoidea/genética , DNA Mitocondrial/genética , DNA Espaçador Ribossômico/genética , Peixes/classificação , Genes de Helmintos/genética , Genótipo , Larva/anatomia & histologia , Larva/classificação , Larva/genética , Larva/crescimento & desenvolvimento , Mar Mediterrâneo , Filogenia
18.
Parasitol Res ; 119(10): 3339-3345, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32827102

RESUMO

Genetic variations in the 18S ribosomal DNA (18S), 28S ribosomal DNA (28S), second internal transcribed spacer of ribosomal DNA (ITS2), and mitochondrial cytochrome c oxidase subunit 1 (cox1) of Neoschoengastia gallinarum collected from subtropical China were examined. First, a portion of the 18S (p18S), a portion of the 28S (p28S), and the complete ITS2 were separately amplified from individual mites and sequenced. The lengths of the sequences of p18S, p28S, and ITS2 were found to be 1379 bp, 3465~3468 bp, and 200 bp, respectively. The intraspecific sequence variation was 0~0.1% for p28S and 0~1.6% for ITS2, though no variation was observed for p18S, suggesting conservation of rDNA sequences. Second, a portion of the mitochondrial cox1 gene (pcox1) of N. gallinarum was analyzed. The length of the pcox1 sequence is 460 bp, and two distinct groups were observed in N. gallinarum. All pcox1 sequences in group I were identical, and there was only one nucleotide transition observed in group II; however, 7.0~7.2% variations between the two groups were observed, suggesting that two genotypes of N. gallinarum: genotype I and genotype II. Phylogenetic analyses based on pcox1 sequences indicated that N. gallinarum isolates (genotype I or genotype II) clustered into one branch; according to cox1 sequence analysis of Trombiculidae, Walchia hayashii is the closest species. The present study shows that ITS2 rDNA sequence can act as marker for the identification of N. gallinarum samples. Furthermore, analysis of the mitochondrial pcox1 sequence suggests the existence of two genotypes, which has implications for further studies of the ecology and population genetic structures of N. gallinarum.


Assuntos
Ciclo-Oxigenase 1/genética , DNA Ribossômico/genética , Trombiculidae/genética , Animais , China , DNA Mitocondrial/genética , Variação Genética , Genótipo , Filogenia , Análise de Sequência de DNA , Trombiculidae/classificação
19.
Nat Commun ; 11(1): 4289, 2020 08 27.
Artigo em Inglês | MEDLINE | ID: mdl-32855397

RESUMO

Older organs represent an untapped potential to close the gap between demand and supply in organ transplantation but are associated with age-specific responses to injury and increased immunogenicity, thereby aggravating transplant outcomes. Here we show that cell-free mitochondrial DNA (cf-mt-DNA) released by senescent cells accumulates with aging and augments immunogenicity. Ischemia reperfusion injury induces a systemic increase of cf-mt-DNA that promotes dendritic cell-mediated, age-specific inflammatory responses. Comparable events are observed clinically, with the levels of cf-mt-DNA elevated in older deceased organ donors, and with the isolated cf-mt-DNA capable of activating human dendritic cells. In experimental models, treatment of old donor animals with senolytics clear senescent cells and diminish cf-mt-DNA release, thereby dampening age-specific immune responses and prolonging the survival of old cardiac allografts comparable to young donor organs. Collectively, we identify accumulating cf-mt-DNA as a key factor in inflamm-aging and present senolytics as a potential approach to improve transplant outcomes and availability.


Assuntos
DNA Mitocondrial/efeitos adversos , Dasatinibe/farmacologia , Inflamação/prevenção & controle , Transplante de Órgãos/métodos , Quercetina/farmacologia , Adulto , Envelhecimento/fisiologia , Animais , Diferenciação Celular , Ácidos Nucleicos Livres , Senescência Celular/efeitos dos fármacos , Senescência Celular/fisiologia , Citocinas/metabolismo , DNA Mitocondrial/metabolismo , Células Dendríticas/imunologia , Células Dendríticas/fisiologia , Transplante de Coração/efeitos adversos , Transplante de Coração/métodos , Humanos , Inflamação/etiologia , Masculino , Camundongos Endogâmicos C57BL , Camundongos Endogâmicos DBA , Pessoa de Meia-Idade , Transplante de Órgãos/efeitos adversos , Traumatismo por Reperfusão/genética , Traumatismo por Reperfusão/imunologia , Doadores de Tecidos
20.
Gene ; 761: 145047, 2020 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-32783993

RESUMO

Mitochondrial DNA (mtDNA) copy number and mitochondrial DNA haplogroups have been associated with different types of cancer, including breast cancer, because they alter cellular energy metabolism. However, whether mtDNA copy number or haplogroups are predictors of oxidative stress-related risks in human breast cancer tissue in Mexican patients remains to be determined. Using quantitative real-time PCR assays and sequencing of the mtDNA hypervariable region, analysis of mtDNA copy numbers in 82 breast cancer tissues (BCT) and matched normal adjacent tissues (NAT) was performed to determine if copy number correlated with clinical features and Amerindian haplogroups (A2, B2, B4, C1 and D1) . The results showed that the mtDNA copy number was significantly decreased in BCT compared with NAT (p = 0.010); it was significantly decreased in BCT and NAT in women > 50 years of age, compared with NAT in women < 50 years of age (p = 0.032 and p = 0.037, respectively); it was significantly decreased in NAT and BCT in the postmenopausal group and in BCT in the premenopausal group compared with NAT in the premenopausal group (p = 0.011, p = 0.010 and, p = 0.018; respectively); and it was also significantly decrease in members of the BCT group classified as having invasive ductal carcinoma I-III (IDC-I, IDC-II and IDC-III) and IDC-II for NAT compared to IDC-I of NAT (p = 0.025, p = 0.022 and p = 0.031 and p = 0.020; respectively). The mtDNA copy number for BCT from patients with haplogroup B2 was decreased compared to patients with haplogroup D1 (p = 0.01); for BCT from patients with haplogroup C1 was also decreased compare with their NAT counterpart (p = 0.006) and with BCT patients belonging to haplogroups A2 and D1 (p = 0.01 and p = 0.03; respectively). In addition, the mtDNA copy number was decrease in the sequences with three deletions relative to the rCRS at nucleotide positions A249del, A290del and A291del, or C16327T polymorphism with the same p = 0.019 for all four variants. Contrary, the copy number increased in sequences containing C16111T, G16319A or T16362C polymorphisms (p = 0.021, =0.048, and = 0.001; respectively). In conclusion, a decrease in the copy number of mtDNA in BCT compared with NAT was shown by the results, which suggests an imbalance in oxidative phosphorylation (OXPHOS) that can affect the apoptosis pathway and cancer progression. It was also observed an increase of the copy number in samples with specific polymorphisms, which may be a good sign of favourable prognosis.


Assuntos
Neoplasias da Mama/genética , Variações do Número de Cópias de DNA/genética , DNA Mitocondrial/genética , Adulto , Neoplasias da Mama/metabolismo , Estudos de Casos e Controles , Feminino , Predisposição Genética para Doença , Haplótipos/genética , Humanos , México/epidemiologia , Pessoa de Meia-Idade , Mitocôndrias/genética
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