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Heteroplasmy

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https://www.readbyqxmd.com/read/28340313/linkage-between-mitochondrial-genome-alterations-telomere-length-and-aging-population
#1
Egija Zole, Krista Zadinane, Liana Pliss, Renate Ranka
We studied telomere length (TL) and mitochondrial DNA (mtDNA) copy number variations in individuals from Latvian Caucasian population in different age groups. We showed a positive correlation between TL and mtDNA copy number in individuals of up to 90 years of age; however, this correlation was not observed in the 90-100 years age group. While TL shortened with age and mtDNA content decreased with increasing age, in this study it was observed that mtDNA copy number in nonagenarians was slightly higher than in the 60-89 years age group...
March 24, 2017: Mitochondrial DNA. Part A. DNA Mapping, Sequencing, and Analysis
https://www.readbyqxmd.com/read/28328248/-a8344g-mitochondrial-dna-mutation-observed-in-two-generations
#2
Anett Fekete, Kinga Hadzsiev, Judit Bene, Antónia Nászai, Petra Mátyás, Ágnes Till, Béla Melegh
This article presents the case of a 62-year-old mother and her 41-year-old daughter, who have had severe neurological symptoms for a few decades. After a long investigation period the definite diagnosis of MERRF syndrome was confirmed. After DNA isolation from our patient's blood sample we examined the mitochondrial DNA with direct sequencing. An adenine-guanine substitution was detected in the tRNA gene at position 8344, based on the sequence ferogram the heteroplasmy was over 90%. The clinical phenotype was not clearly characteristic for MERRF syndrome, adult-onset and lipomas are not typical in this disease...
March 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/28296806/new-observations-regarding-the-retinopathy-of-genetically-confirmed-kearns-sayre-syndrome
#3
Igor Kozak, Darren T Oystreck, Khaled K Abu-Amero, Sawsan R Nowilaty, Hisham Alkhalidi, Sahar M Elkhamary, Sarar Mohamed, Muddathir H A Hamad, Mustafa A Salih, Emma L Blakely, Robert W Taylor, Thomas M Bosley
PURPOSE: To report novel retinal findings in Kearns-Sayre syndrome and correlate degree of retinopathy with other clinical findings. METHODS: Observational case series of patients from Saudi Arabia with retinal and neuroophthalmologic examinations, medical chart review, and mitochondrial genetic evaluation. RESULTS: The three unrelated patients had progressive external ophthalmoplegia and pigmentary retinopathy bilaterally. Muscle biopsy in two of the cases revealed mitochondrial myopathy...
December 19, 2016: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28244283/entire-mitochondrial-dna-sequencing-on-massively-parallel-sequencing-for-the-korean-population
#4
Sohyung Park, Sohee Cho, Hee Jin Seo, Ji Hyun Lee, Moon Young Kim, Soong Deok Lee
Mitochondrial DNA (mtDNA) genome analysis has been a potent tool in forensic practice as well as in the understanding of human phylogeny in the maternal lineage. The traditional mtDNA analysis is focused on the control region, but the introduction of massive parallel sequencing (MPS) has made the typing of the entire mtDNA genome (mtGenome) more accessible for routine analysis. The complete mtDNA information can provide large amounts of novel genetic data for diverse populations as well as improved discrimination power for identification...
April 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28226235/plant-mitochondrial-genomes-dynamics-and-mechanisms-of-mutation
#5
José M Gualberto, Kathleen J Newton
The large mitochondrial genomes of angiosperms are unusually dynamic because of recombination activities involving repeated sequences. These activities generate subgenomic forms and extensive genomic variation even within the same species. Such changes in genome structure are responsible for the rapid evolution of plant mitochondrial DNA and for the variants associated with cytoplasmic male sterility and abnormal growth phenotypes. Nuclear genes modulate these processes, and over the past decade, several of these genes have been identified...
February 9, 2017: Annual Review of Plant Biology
https://www.readbyqxmd.com/read/28224084/low-blood-heteroplasmy-rate-may-cause-late-onset-melas
#6
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28220277/establishment-of-a-heteroplasmic-mouse-strain-with-interspecific-mitochondrial-dna-haplotypes-and-improvement-of-a-pcr-rflp-based-measurement-system-for-estimation-of-mitochondrial-dna-heteroplasmy
#7
Hiroshi Shitara, Liqin Cao, Midori Yamaguchi, Hiromichi Yonekawa, Choji Taya
Mitochondrial DNA segregation is one of the characteristic modes of mitochondrial inheritance in which the heteroplasmic state of mitochondrial DNA is transmitted to the next generation in variable proportions. To analyze mitochondrial DNA segregation, we produced a heteroplasmic mouse strain with interspecific mitochondrial DNA haplotypes, which contains two types of mitochondrial DNA derived from C57BL/6J and Mus spretus strains. The strain was produced on a C57BL/6J nuclear genomic background by microinjection of donor cytoplasm into fertilized eggs...
February 20, 2017: Transgenic Research
https://www.readbyqxmd.com/read/28199200/mitochondrial-dna-mitochondrial-dysfunction-and-cardiac-manifestations
#8
Sung Ryul Lee, Nari Kim, Yeun Hee Noh, Zhelong Xu, Kyung Soo Ko, Byoung Doo Rhee, Jin Han
Mitochondria, are the powerhouses of cells, have their own DNA (mtDNA), regulate the transport of metabolites and ions, and impact cell physiology, survival, and death. Mitochondrial dysfunction, including impaired oxidative phosphorylation, preferentially affects heart function due to an imbalance of energy supply and demand. Recently, mitochondrial mutations and associated mitochondrial dysfunction were suggested as a causal factor of cardiac manifestations. Oxidative stress largely influences mtDNA stability due to oxidative modifications of mtDNA...
March 1, 2017: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/28193506/evaluation-of-genemarker-%C3%A2-hts-for-improved-alignment-of-mtdna-mps-data-haplotype-determination-and-heteroplasmy-assessment
#9
Mitchell M Holland, Erica D Pack, Jennifer A McElhoe
Existing software has not allowed for effective alignment of mitochondrial (mt) DNA sequence data generated using a massively parallel sequencing (MPS) approach, combined with the ability to perform a detailed assessment of the data. The regions of sequence that are typically difficult to align are homopolymeric stretches, isolated patterns of SNPs (single nucleotide polymorphisms), and INDELs (insertions/deletions). A custom software solution, GeneMarker(®) HTS, was developed and evaluated to address these limitations, and to provide a user-friendly interface for forensic practitioners and others interested in mtDNA analysis of MPS data...
February 6, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28188893/ultra-deep-next-generation-mitochondrial-genome-sequencing-reveals-widespread-heteroplasmy-in-chinese-hamster-ovary-cells
#10
Paul S Kelly, Colin Clarke, Alan Costello, Craig Monger, Justine Meiller, Heena Dhiman, Nicole Borth, Michael J Betenbaugh, Martin Clynes, Niall Barron
Recent sequencing of the Chinese hamster ovary (CHO) cell and Chinese hamster genomes has dramatically advanced our ability to understand the biology of these mammalian cell factories. In this study, we focus on the powerhouse of the CHO cell, the mitochondrion. Utilizing a high-resolution next generation sequencing approach we sequenced the Chinese hamster mitochondrial genome for the first time and surveyed the mutational landscape of CHO cell mitochondrial DNA (mtDNA). Depths of coverage ranging from ~3,319X to 8,056X enabled accurate identification of low frequency mutations (>1%), revealing that mtDNA heteroplasmy is widespread in CHO cells...
February 8, 2017: Metabolic Engineering
https://www.readbyqxmd.com/read/28153046/mitochondrial-dna-point-mutations-and-relative-copy-number-in-1363-disease-and-control-human-brains
#11
Wei Wei, Michael J Keogh, Ian Wilson, Jonathan Coxhead, Sarah Ryan, Sara Rollinson, Helen Griffin, Marzena Kurzawa-Akinibi, Mauro Santibanez-Koref, Kevin Talbot, Martin R Turner, Chris-Anne McKenzie, Claire Troakes, Johannes Attems, Colin Smith, Safa Al Sarraj, Christopher M Morris, Olaf Ansorge, Stuart Pickering-Brown, James W Ironside, Patrick F Chinnery
Mitochondria play a key role in common neurodegenerative diseases and contain their own genome: mtDNA. Common inherited polymorphic variants of mtDNA have been associated with several neurodegenerative diseases, and somatic deletions of mtDNA have been found in affected brain regions. However, there are conflicting reports describing the role of rare inherited variants and somatic point mutations in neurodegenerative disorders, and recent evidence also implicates mtDNA levels. To address these issues we studied 1363 post mortem human brains with a histopathological diagnosis of Parkinson's disease (PD), Alzheimer's disease (AD), Frontotemporal dementia - Amyotrophic Lateral Sclerosis (FTD-ALS), Creutzfeldt Jacob disease (CJD), and healthy controls...
February 2, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28137324/heteroplasmy-due-to-coexistence-of-mtcoi-haplotypes-from-different-lineages-of-the-thrips-tabaci-cryptic-species-group
#12
S J Gawande, S Anandhan, A A Ingle, Alana Jacobson, R Asokan
Heteroplasmy is the existence of multiple mitochondrial DNA haplotypes within the cell. Although the number of reports of heteroplasmy is increasing for arthropods, the occurrence, number of variants, and origins are not well studied. In this research, the occurrence of heteroplasmy was investigated in Thrips tabaci, a putative species complex whose lineages can be distinguished by their mitochondrial DNA haplotypes. The results from this study showed that heteroplasmy was due to the occurrence of mitochondrial cytochrome oxydase I (mtCOI) haplotypes from two different T...
January 31, 2017: Bulletin of Entomological Research
https://www.readbyqxmd.com/read/28114306/new-evidences-of-mitochondrial-dna-heteroplasmy-by-putative-paternal-leakage-between-the-rock-partridge-alectoris-graeca-and-the-chukar-partridge-alectoris-chukar
#13
Andrea Gandolfi, Barbara Crestanello, Anna Fagotti, Francesca Simoncelli, Stefania Chiesa, Matteo Girardi, Eleonora Giovagnoli, Carla Marangoni, Ines Di Rosa, Livia Lucentini
The rock partridge, Alectoris graeca, is a polytypic species declining in Italy mostly due to anthropogenic causes, including the massive releases of the closely related allochthonous chukar partridge Alectoris chukar which produced the formation of hybrids. Molecular approaches are fundamental for the identification of evolutionary units in the perspective of conservation and management, and to correctly select individuals to be used in restocking campaigns. We analyzed a Cytochrome oxidase I (COI) fragment of contemporary and historical A...
2017: PloS One
https://www.readbyqxmd.com/read/28102008/gender-associated-mitochondrial-dna-heteroplasmy-in-somatic-tissues-of-the-endangered-freshwater-mussel-unio-crassus-bivalvia-unionidae-implications-for-sex-identification-and-phylogeographical-studies
#14
Monika Mioduchowska, Agnieszka Kaczmarczyk, Katarzyna Zając, Tadeusz Zając, Jerzy Sell
Some bivalve species possess two independent mitochondrial DNA lineages: maternally (F-type) and paternally (M-type) inherited. This phenomenon is called doubly uniparental inheritance. It is generally agreed that F-type mtDNA is typically present in female somatic and gonadal tissues as well as in male somatic tissues, whereas the M-type mtDNA occurs only in male germ line and gonadal tissue. In the present study, the mtDNA heteroplasmy (for both F and M genomes) in male somatic tissues of Unio crassus (Philipsson, 1788), species threatened with extinction, has been confirmed...
November 2016: Journal of Experimental Zoology. Part A, Ecological Genetics and Physiology
https://www.readbyqxmd.com/read/28097850/-a-regenerative-anemia-in-infants-2-cases-of-pearson%C3%A2-s-syndrome
#15
José M Martínez de Zabarte Fernández, Carmen Rodríguez-Vigil Iturrate, Cristina Martínez Faci, Inmaculada García Jiménez, Laura Murillo Sanjuan, Ascensión Muñoz Mellado
Anemia is very common in infants. Although its causes are usually not severe and treatable, proper etiologic diagnosis should be established. When anemia is non-regenerative, it can be caused by aplastic anemia, myelodysplastic syndrome, bone marrow infiltration or hematopoietic factors deficiencies. Another possible cause is Pearson's syndrome, a rare mitochondrial disease that causes non-regenerative anemia associated with other cytopenias, pancreatic insufficiency, lactic acidosis and great variability in clinical presentation conditioned by heteroplasmy...
February 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28087770/mitochondrial-mutation-rate-spectrum-and-heteroplasmy-in-caenorhabditis-elegans-spontaneous-mutation-accumulation-lines-of-differing-population-size
#16
Anke Konrad, Owen Thompson, Robert H Waterston, Donald G Moerman, Peter D Keightley, Ulfar Bergthorsson, Vaishali Katju
Mitochondrial genomes of metazoans, given their elevated rates of evolution, have served as pivotal markers for phylogeographic studies and recent phylogenetic events. In order to determine the dynamics of spontaneous mitochondrial mutations in small populations in the absence and presence of selection, we evolved mutation accumulation (MA) lines of Caenorhabditis elegans in parallel over 409 consecutive generations at three varying population sizes of N = 1, 10 and 100 hermaphrodites. The N =1 populations should have a minimal influence of natural selection to provide the spontaneous mutation rate and the expected rate of neutral evolution, whereas larger population sizes should experience increasing intensity of selection...
January 12, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/28078444/mps-analysis-of-the-mtdna-hypervariable-regions-on-the-miseq-with-improved-enrichment
#17
Mitchell M Holland, Laura A Wilson, Sarah Copeland, Gloria Dimick, Charity A Holland, Robert Bever, Jennifer A McElhoe
The non-coding displacement (D) loop of the human mitochondrial (mt) genome contains two hypervariable regions known as HVR1 and HVR2 that are most often analyzed by forensic DNA laboratories. The massively parallel sequencing (MPS) protocol from Illumina (Human mtDNA D-Loop Hypervariable Region protocol) utilizes four sets of established PCR primer pairs for the initial amplification (enrichment) step that span the hypervariable regions. Transposase adapted (TA) sequences are attached to the 5'-end of each primer, allowing for effective library preparation prior to analysis on the MiSeq, and AmpliTaq Gold DNA polymerase is the enzyme recommended for amplification...
January 11, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/27994972/pursuing-the-quest-for-better-understanding-the-taxonomic-distribution-of-the-system-of-doubly-uniparental-inheritance-of-mtdna
#18
Arthur Gusman, Sophia Lecomte, Donald T Stewart, Marco Passamonti, Sophie Breton
There is only one exception to strict maternal inheritance of mitochondrial DNA (mtDNA) in the animal kingdom: a system named doubly uniparental inheritance (DUI), which is found in several bivalve species. Why and how such a radically different system of mitochondrial transmission evolved in bivalve remains obscure. Obtaining a more complete taxonomic distribution of DUI in the Bivalvia may help to better understand its origin and function. In this study we provide evidence for the presence of sex-linked heteroplasmy (thus the possible presence of DUI) in two bivalve species, i...
2016: PeerJ
https://www.readbyqxmd.com/read/27988613/early-diverging-bumblebees-from-across-the-roof-of-the-world-the-high-mountain-subgenus-i-mendacibombus-i-revised-from-species-gene-coalescents-and-morphology-hymenoptera-apidae
#19
Paul H Williams, Jiaxing Huang, Pierre Rasmont, Jiandong An
The bumblebees of the subgenus Mendacibombus of the genus Bombus are the sister group to all other extant bumblebees and are unusual among bees for specialising in some of the highest elevation habitats with entomophilous plants on Earth. Most named taxa in this group (24 available names, from a total of 49 published names) were described originally from small differences in the colour pattern of the hair, many as parts (e.g. subspecies) of just one species. Subsequent taxonomic treatments recognised multiple species, but have described very few morphological characters, most of which are in the male genitalia...
December 1, 2016: Zootaxa
https://www.readbyqxmd.com/read/27955616/the-ability-of-human-nuclear-dna-to-cause-false-positive-low-abundance-heteroplasmy-calls-varies-across-the-mitochondrial-genome
#20
Levent Albayrak, Kamil Khanipov, Maria Pimenova, George Golovko, Mark Rojas, Ioannis Pavlidis, Sergei Chumakov, Gerardo Aguilar, Arturo Chávez, William R Widger, Yuriy Fofanov
BACKGROUND: Low-abundance mutations in mitochondrial populations (mutations with minor allele frequency ≤ 1%), are associated with cancer, aging, and neurodegenerative disorders. While recent progress in high-throughput sequencing technology has significantly improved the heteroplasmy identification process, the ability of this technology to detect low-abundance mutations can be affected by the presence of similar sequences originating from nuclear DNA (nDNA). To determine to what extent nDNA can cause false positive low-abundance heteroplasmy calls, we have identified mitochondrial locations of all subsequences that are common or similar (one mismatch allowed) between nDNA and mitochondrial DNA (mtDNA)...
December 12, 2016: BMC Genomics
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