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Heteroplasmy

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https://www.readbyqxmd.com/read/27919073/mitochondrial-replacement-in-human-oocytes-carrying-pathogenic-mitochondrial-dna-mutations
#1
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/27908228/detection-of-mutations-in-mitochondrial-dna-by-droplet-digital-pcr
#2
J K Sofronova, Y Y Ilinsky, K E Orishchenko, E G Chupakhin, E A Lunev, I O Mazunin
Mutations in mitochondrial DNA (mtDNA) may result in various pathological processes. Detection of mutant mtDNAs is a problem for diagnostic practice that is complicated by heteroplasmy - a phenomenon of the inferring presence of at least two allelic variants of the mitochondrial genome. Also, the level of heteroplasmy largely determines the profile and severity of clinical manifestations. Here we discuss detection of mutations in heteroplasmic mtDNA using up-to-date methods that have not yet been introduced as routine clinical assays...
October 2016: Biochemistry. Biokhimii︠a︡
https://www.readbyqxmd.com/read/27899967/heteroplasmy-of-mutant-mitochondrial-dna-a10398g-and-analysis-of-its-prognostic-value-in-non-small-cell-lung-cancer
#3
Yuexiao Qi, Yuehua Wei, Qiaoli Wang, Hui Xu, You Wang, Anqi Yao, Hui Yang, Yan Gao, Fuxiang Zhou
Mitochondrial dysfunction is associated with pathogenic mitochondrial (mt)DNA mutations. The majority of mtDNA point mutations have a heteroplasmic status, which is defined as the coexistence of wild-type and mutated DNA within a cell or tissue. Previous findings demonstrated that certain mtDNA heteroplasmic mutations contribute to widely spread chronic diseases, including cancer, and alterations in the heteroplasmy level are associated with the clinical phenotype and severity of cancer. In the present study, the proportions of mutant mtDNA 10398G were assessed using amplification-refractory mutation system-quantitative polymerase chain reaction (PCR) assay in 129 non-small cell lung cancer (NSCLC) tissue samples...
November 2016: Oncology Letters
https://www.readbyqxmd.com/read/27896131/case-report-5%C3%A2-year-follow-up-of-adult-late-onset-mitochondrial-encephalomyopathy-with-lactic-acid-and-stroke-like-episodes-melas
#4
Kiri Sunde, Patrick R Blackburn, Anvir Cheema, Jennifer Gass, Jessica Jackson, Sarah Macklin, Paldeep S Atwal
Mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS) is a multisystem mitochondrial disorder that typically presents in childhood. We describe the follow-up of a patient who was diagnosed with late-onset MELAS at the age of 49. Her clinical course includes sensorineural hearing loss, seizures, and multiple episodes of stroke-like metabolic crises. Molecular genetic testing on whole blood revealed 31% heteroplasmy of a m.3243A > G variant in the mtDNA, the causative variant in approximately 80% of MELAS cases...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27869334/prediction-of-long-term-prognosis-by-heteroplasmy-levels-of-the-m-3243a-g-mutation-in-patients-with-the-mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes-syndrome
#5
A Fayssoil, P Laforêt, W Bougouin, C Jardel, A Lombès, H M Bécane, N Berber, T Stojkovic, A Béhin, B Eymard, D Duboc, K Wahbi
BACKGROUND AND PURPOSE: Our aim was to determine the prognostic value of urine and blood heteroplasmy in patients with the m.3243A>G mutation. METHODS: Adults with the m.3243A>G mutation referred to our institution between January 2000 and May 2014 were retrospectively included. The relationship between their baseline clinical characteristics, their mutation load in urine and blood, and major adverse events (MAEs) during follow-up, defined as medical complications requiring a hospitalization or complicated by death, was studied...
November 21, 2016: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/27843288/leber-s-hereditary-optic-neuropathy-is-multiorgan-not-mono-organ
#6
REVIEW
Josef Finsterer, Sinda Zarrouk-Mahjoub
Leber's hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disorder with bilateral loss of central vision primarily due to mitochondrial DNA (mtDNA) mutations in subunits of complex I in the respiratory chain (primary LHON mutations), while other mtDNA mutations can also be causative. Since the first description, it is known that LHON is not restricted to the eyes but is a multisystem disorder additionally involving the central nervous system, ears, endocrinological organs, heart, bone marrow, arteries, kidneys, or the peripheral nervous system...
2016: Clinical Ophthalmology
https://www.readbyqxmd.com/read/27843124/evolution-of-cell-to-cell-variability-in-stochastic-controlled-heteroplasmic-mtdna-populations
#7
Iain G Johnston, Nick S Jones
Populations of physiologically vital mitochondrial DNA (mtDNA) molecules evolve in cells under control from the nucleus. The evolution of populations of mixed mtDNA types is complicated and poorly understood, and variability of these controlled admixtures plays a central role in the inheritance and onset of genetic disease. Here, we develop a mathematical theory describing the evolution of, and variability in, these stochastic populations for any type of cellular control, showing that cell-to-cell variability in mtDNA and mutant load inevitably increases with time, according to rates that we derive and which are notably independent of the mechanistic details of feedback signaling...
November 3, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27816849/a-collaborative-ednap-exercise-on-snapshot%C3%A2-based-mtdna-control-region-typing
#8
N E C Weiler, K Baca, D Ballard, F Balsa, M Bogus, C Børsting, F Brisighelli, J Červenáková, L Chaitanya, M Coble, V Decroyer, S Desmyter, K J van der Gaag, K Gettings, C Haas, J Heinrich, M João Porto, A J Kal, M Kayser, A Kúdelová, N Morling, A Mosquera-Miguel, F Noel, W Parson, V Pereira, C Phillips, P M Schneider, D Syndercombe Court, M Turanska, A Vidaki, P Woliński, L Zatkalíková, T Sijen
A collaborative European DNA Profiling (EDNAP) Group exercise was undertaken to assess the performance of an earlier described SNaPshot™-based screening assay (denoted mini-mtSNaPshot) (Weiler et al., 2016) [1] that targets 18 single nucleotide polymorphism (SNP) positions in the mitochondrial (mt) DNA control region and allows for discrimination of major European mtDNA haplogroups. Besides the organising laboratory, 14 forensic genetics laboratories were involved in the analysis of 13 samples, which were centrally prepared and thoroughly tested prior to shipment...
October 24, 2016: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/27814659/current-strategies-towards-therapeutic-manipulation-of-mtdna-heteroplasmy
#9
Claudia V Pereira, Carlos T Moraes
Mitochondrial disease is a multifactorial disorder involving both nuclear and mitochondrial genomes. Over the past 20 years, great progress was achieved in the field of gene editing which raised the possibility of partial or complete elimination of mutant mtDNA that causes disease phenotypes. Each cell contains thousands of copies of mtDNA which can be either wild-type (WT) or mutant, a condition called heteroplasmy. As there are multiple copies of mtDNA inside a cell, the percentage of mutant mtDNA can vary and a directional shift in the heteroplasmy ratio towards an increase of WT mtDNA copies would have therapeutic value...
January 1, 2017: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/27811968/very-short-mitochondrial-dna-fragments-and-heteroplasmy-in-human-plasma
#10
Ruoyu Zhang, Kiichi Nakahira, Xiaoxian Guo, Augustine M K Choi, Zhenglong Gu
Cell free DNA (cfDNA) has received increasing attention and has been studied in a broad range of clinical conditions. However, few studies have focused on mitochondrial DNA (mtDNA) in the cell free form. We optimized DNA isolation and sequencing library preparation protocols to better retain short DNA fragments from plasma, and applied these optimized methods to plasma samples from patients with sepsis. Our methods can retain substantially shorter DNA, resulting in an average of 11.5 fold increase in short DNA fragments yield (DNA <100bp)...
November 4, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27792786/genetic-evidence-for-elevated-pathogenicity-of-mitochondrial-dna-heteroplasmy-in-autism-spectrum-disorder
#11
Yiqin Wang, Martin Picard, Zhenglong Gu
Increasing clinical and biochemical evidence implicate mitochondrial dysfunction in the pathophysiology of Autism Spectrum Disorder (ASD), but little is known about the biological basis for this connection. A possible cause of ASD is the genetic variation in the mitochondrial DNA (mtDNA) sequence, which has yet to be thoroughly investigated in large genomic studies of ASD. Here we evaluated mtDNA variation, including the mixture of different mtDNA molecules in the same individual (i.e., heteroplasmy), using whole-exome sequencing data from mother-proband-sibling trios from simplex families (n = 903) where only one child is affected by ASD...
October 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27770035/replication-errors-made-during-oogenesis-lead-to-detectable-de-novo-mtdna-mutations-in-zebrafish-oocytes-with-a-low-mtdna-copy-number
#12
Auke B C Otten, Alphons P M Stassen, Michiel Adriaens, Mike Gerards, Richard G J Dohmen, Adriana J Timmer, Sabina J V Vanherle, Rick Kamps, Iris B W Boesten, Jo M Vanoevelen, Marc Muller, Bert Smeets
Of all pathogenic mitochondrial DNA (mtDNA) mutations in humans, ~25% is de novo, although the occurrence in oocytes has never been directly assessed. We used next generation sequencing to detect point mutations directly in the mtDNA of 3-15 individual mature oocytes and three somatic tissues from eight zebrafish females. Various statistical and biological filters allowed reliable detection of de novo variants with heteroplasmy ≥1.5%. In total, we detected 38 de novo base substitutions, but no insertions or deletions...
October 21, 2016: Genetics
https://www.readbyqxmd.com/read/27760018/relevance-of-molecular-changes-in-the-nd4-gene-in-german-shepherd-dog-tumours
#13
B Ślaska, L Grzybowska-Szatkowska, M Bugno-Poniewierska, A Gurgul, A Śmiech, D Różańska, J Dudka
The aim of the study was to identify polymorphisms and mutations in the mitochondrial ND4 gene and to analyse the associations between the occurrence of molecular changes in mtDNA and phenotypic traits in tumours in German Shepherd dogs. Fifty samples obtained from blood and tumour tissues of German Shepherd dogs with diagnosed tumours were analysed. DNA extraction, amplification, and sequencing of the mtDNA ND4 gene, and bioinformatics, statistical, and in silico protein coding SNP analyses were performed...
September 1, 2016: Polish Journal of Veterinary Sciences
https://www.readbyqxmd.com/read/27721048/characterization-of-a-leber-s-hereditary-optic-neuropathy-lhon-family-harboring-two-primary-lhon-mutations-m-11778g-a-and-m-14484t-c-of-the-mitochondrial-dna
#14
Claudia B Catarino, Uwe Ahting, Mirjana Gusic, Arcangela Iuso, Birgit Repp, Katrin Peters, Saskia Biskup, Bettina von Livonius, Holger Prokisch, Thomas Klopstock
Leber's hereditary optic neuropathy (LHON) is an inherited mitochondrial disease that usually leads to acute or subacute bilateral central vision loss. In 95% of cases, LHON is caused by one of three primary mutations of the mitochondrial DNA (mtDNA), m.11778G>A in the MT-ND4 gene, m.14484T>C in the MT-ND6 gene, or m.3460G>A in the MT-ND1 gene. Here we characterize clinically, genetically, and biochemically a LHON family with multiple patients harboring two of these primary LHON mutations, m.11778G>A homoplasmic and m...
October 6, 2016: Mitochondrion
https://www.readbyqxmd.com/read/27718383/considering-dna-damage-when-interpreting-mtdna-heteroplasmy-in-deep-sequencing-data
#15
Molly M Rathbun, Jennifer A McElhoe, Walther Parson, Mitchell M Holland
Resolution of mitochondrial (mt) DNA heteroplasmy is now possible when applying a massively parallel sequencing (MPS) approach, including minor components down to 1%. However, reporting thresholds and interpretation criteria will need to be established for calling heteroplasmic variants that address a number of important topics, one of which is DNA damage. We assessed the impact of increasing amounts of DNA damage on the interpretation of minor component sequence variants in the mtDNA control region, including low-level mixed sites...
September 28, 2016: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/27701346/worldwide-revision-of-the-genus-fraseroscyphus-boero-and-bouillon-1993%C3%A2-cnidaria-hydrozoa-an-integrative-approach-to-establish-new-generic-diagnoses
#16
Xikun Song, Zefeng Xiao, Cinzia Gravili, Bernhard Ruthensteiner, Melanie Mackenzie, Shaoqing Wang, Jinjing Chen, Nan Yu, Jianjun Wang
The morphological character of the hydrocladium and gonotheca origin from within the hydrothecal cavity has rarely been applied for generic diagnoses in hydrozoans. Its taxonomic value has been controversial for more than a century. The genus Fraseroscyphus Boero and Bouillon, 1993 (Hydrozoa: Sertulariidae) is a relatively recently debated case and it has been distinguished from Symplectoscyphus Marktanner-Turneretscher, 1890 based on this character. A review of this character in all published nominal species of the family Sertulariidae reveals that its occurrence is inconsistent at the genus level...
September 14, 2016: Zootaxa
https://www.readbyqxmd.com/read/27693765/two-novel-mitochondrial-trna-mutations-a7495g-trna-ser-ucn-and-c5577t-trna-trp-are-associated-with-seizures-and-cardiac-dysfunction
#17
Djurdja Djordjevic, Lauren Brady, Renkui Bai, Mark A Tarnopolsky
We describe here two novel mitochondrial mutations associated with a complex mitochondrial encephalopathy. An A to G transition at position 7495 (MT-TS1 (MT-tRNSer(UCN))) was identified at 83% heteroplasmy in the muscle of a four year old female with ptosis, hypotonia, seizures, and dilated cardiomyopathy (Case 1). A homoplasmic C to T transition at position 5577 (MT-TW (MT-tRNATrp)) was found in a twenty-four year old woman with exercise intolerance, mild muscle weakness, hearing loss, seizures, and cognitive decline (Case 2)...
November 2016: Mitochondrion
https://www.readbyqxmd.com/read/27683045/melas-syndrome-and-kidney-disease-without-fanconi-syndrome-or-proteinuria-a-case-report
#18
Michael Rudnicki, Johannes A Mayr, Johannes Zschocke, Herwig Antretter, Heinz Regele, René G Feichtinger, Martin Windpessl, Gert Mayer, Gerhard Pölzl
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome) represents one of the most frequent mitochondrial disorders. The majority of MELAS cases are caused by m.3243A>G mutation in the mitochondrial MT-TL1 gene, which encodes the mitochondrial tRNA(Leu(UUR)). Kidney involvement usually manifests as Fanconi syndrome or focal segmental glomerulosclerosis. We describe a patient with MELAS mutation, cardiomyopathy, and chronic kidney disease without Fanconi syndrome, proteinuria, or hematuria...
September 24, 2016: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/27636744/weigh-and-wait-the-prospect-of-mitochondrial-gene-replacement
#19
Liang Xu, Rui Shi
Mitochondrial DNA transfer has recently received attention from physicians. The transfer techniques place genetic material from the egg nucleus of a woman with a mitochondrial DNA mutation into a healthy donated egg from which the nuclear DNA was removed. This technology intends to reconstruct a mitochondria-competent egg to produce a baby. Three approaches: (1) pronuclear transfer; (2) metaphase II spindle transfer (ST); and (3) polar body (PB) transfer, have been proposed and applied in animal models with very low levels of heteroplasmy...
September 16, 2016: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/27631761/haplotype-identification-and-detection-of-mitochondrial-dna-heteroplasmy-in-varroa-destructor-mites-using-arms-and-pcr-rflp-methods
#20
Bojan Gajić, Jevrosima Stevanović, Željko Radulović, Zoran Kulišić, Branislav Vejnović, Uroš Glavinić, Zoran Stanimirović
In the present study, amplification refractory mutation system (ARMS) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methods were used for identification of recently described Serbia 1 (S1) and Peshter 1 (P1) mitochondrial haplotypes of Varroa destructor. Based on single nucleotide polymorphisms (SNPs) within cytochrome oxidase 1 (cox1) and cytochrome b (cytb) gene sequences, a total of 64 adult V. destructor females were analyzed from locations where the S1 and P1 haplotypes had been detected previously...
November 2016: Experimental & Applied Acarology
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