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Heteroplasmy

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https://www.readbyqxmd.com/read/29774306/leber-s-hereditary-optic-neuropathy-lhon-in-an-apulian-cohort-of-subjects
#1
Angelica Bianco, Luigi Bisceglia, Paolo Trerotoli, Luciana Russo, Leonardo D'Agruma, Silvana Guerriero, Vittoria Petruzzella
Leber's hereditary optic neuropathy (LHON) is a maternally inherited disorder that causes severe loss of sight in young adults, and is typically associated to mitochondrial DNA (mtDNA) mutations. Heteroplasmy of primary LHON mutations, presence of 'ancillary' mtDNA mutations, and mtDNA copy number are probably correlated with the penetrance and the severity of the disease. In this study, we performed a mutational screening in an Apulian cohort of LHON patients and we found that 41 out of 54 subjects harbored the m...
September 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29764251/future-of-human-mitochondrial-dna-editing-technologies
#2
N Verechshagina, N Nikitchina, Y Yamada, Н Harashima, M Tanaka, K Orishchenko, I Mazunin
ATP and other metabolites, which are necessary for the development, maintenance, and functioning of bodily cells are all synthesized in the mitochondria. Multiple copies of the genome, present within the mitochondria, together with its maternal inheritance, determine the clinical manifestation and spreading of mutations in mitochondrial DNA (mtDNA). The main obstacle in the way of thorough understanding of mitochondrial biology and the development of gene therapy methods for mitochondrial diseases is the absence of systems that allow to directly change mtDNA sequence...
May 15, 2018: Mitochondrial DNA. Part A. DNA Mapping, Sequencing, and Analysis
https://www.readbyqxmd.com/read/29735722/mtdna-heteroplasmy-level-and-copy-number-indicate-disease-burden-in-m-3243a-g-mitochondrial-disease
#3
John P Grady, Sarah J Pickett, Yi Shiau Ng, Charlotte L Alston, Emma L Blakely, Steven A Hardy, Catherine L Feeney, Alexandra A Bright, Andrew M Schaefer, Gráinne S Gorman, Richard Jq McNally, Robert W Taylor, Doug M Turnbull, Robert McFarland
Mitochondrial disease associated with the pathogenic m.3243A>G variant is a common, clinically heterogeneous, neurogenetic disorder. Using multiple linear regression and linear mixed modelling, we evaluated which commonly assayed tissue (blood N  = 231, urine N  = 235, skeletal muscle N  = 77) represents the m.3243A>G mutation load and mitochondrial DNA (mtDNA) copy number most strongly associated with disease burden and progression. m.3243A>G levels are correlated in blood, muscle and urine ( R 2  = 0...
May 7, 2018: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/29674682/author-correction-segregation-of-mitochondrial-dna-heteroplasmy-through-a-developmental-genetic-bottleneck-in-human-embryos
#4
Vasileios I Floros, Angela Pyle, Sabine Dietmann, Wei Wei, Walfred W C Tang, Naoko Irie, Brendan Payne, Antonio Capalbo, Laila Noli, Jonathan Coxhead, Gavin Hudson, Moira Crosier, Henrik Strahl, Yacoub Khalaf, Mitinori Saitou, Dusko Ilic, M Azim Surani, Patrick F Chinnery
In the version of this Letter originally published, an author error led to the affiliations for Brendan Payne, Jonathan Coxhead and Gavin Hudson being incorrect. The correct affiliations are: Brendan Payne: 3 Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK. 6 Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK; this is a new affiliation 6 and subsequent existing affiliations have been renumbered. Jonathan Coxhead: 11 Genomic Core Facility, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK; this is a new affiliation 11 and subsequent existing affiliations have been renumbered...
April 19, 2018: Nature Cell Biology
https://www.readbyqxmd.com/read/29671673/cancer-specific-snps-originate-from-low-level-heteroplasmic-variants-in-human-mitochondrial-genomes-of-a-matched-cell-line-pair
#5
Annica Hedberg, Erik Knutsen, Anne Silje Løvhaugen, Tor Erik Jørgensen, Maria Perander, Steinar D Johansen
Low-level mitochondrial heteroplasmy is a common phenomenon in both normal and cancer cells. Here, we investigate the link between low-level heteroplasmy and mitogenome mutations in a human breast cancer matched cell line by high-throughput sequencing. We identified 23 heteroplasmic sites, of which 15 were common between normal cells (Hs578Bst) and cancer cells (Hs578T). Most sites were clustered within the highly conserved Complex IV and ribosomal RNA genes. Two heteroplasmic variants in normal cells were found as fixed mutations in cancer cells...
April 19, 2018: Mitochondrial DNA. Part A. DNA Mapping, Sequencing, and Analysis
https://www.readbyqxmd.com/read/29651131/low-level-mitochondrial-heteroplasmy-modulates-dna-replication-glucose-metabolism-and-lifespan-in-mice
#6
Misa Hirose, Paul Schilf, Yask Gupta, Kim Zarse, Axel Künstner, Anke Fähnrich, Hauke Busch, Junping Yin, Marvin N Wright, Andreas Ziegler, Marie Vallier, Meriem Belheouane, John F Baines, Diethard Tautz, Kornelia Johann, Rebecca Oelkrug, Jens Mittag, Hendrik Lehnert, Alaa Othman, Olaf Jöhren, Markus Schwaninger, Cornelia Prehn, Jerzy Adamski, Kensuke Shima, Jan Rupp, Robert Häsler, Georg Fuellen, Rüdiger Köhling, Michael Ristow, Saleh M Ibrahim
Mutations in mitochondrial DNA (mtDNA) lead to heteroplasmy, i.e., the intracellular coexistence of wild-type and mutant mtDNA strands, which impact a wide spectrum of diseases but also physiological processes, including endurance exercise performance in athletes. However, the phenotypic consequences of limited levels of naturally arising heteroplasmy have not been experimentally studied to date. We hence generated a conplastic mouse strain carrying the mitochondrial genome of an AKR/J mouse strain (B6-mtAKR ) in a C57BL/6 J nuclear genomic background, leading to >20% heteroplasmy in the origin of light-strand DNA replication (OriL)...
April 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29605341/high-level-heteroplasmy-for-the-m-7445a-g-mitochondrial-dna-mutation-can-cause-progressive-sensorineural-hearing-loss-in-infancy
#7
Kana Matsushima, Atsuko Nakano, Yukiko Arimoto, Hideki Mutai, Kazuki Yamazawa, Kei Murayama, Tatsuo Matsunaga
OBJECTIVE: Hearing loss caused by mutation of mitochondrial DNA typically develops in late childhood or early adulthood, but rarely in infancy. We report the investigation of a patient to determine the cause of his early onset hearing loss. MATERIALS AND METHODS: The proband was a boy aged 1 year and 2 months at presentation. Newborn hearing screening test by automated auditory brainstem response generated "pass" results for both ears. His reaction to sound deteriorated by 9 months...
May 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29602698/novel-insights-into-the-functional-metabolic-impact-of-an-apparent-de-novo-m-8993t-g-variant-in-the-mt-atp6-gene-associated-with-maternally-inherited-form-of-leigh-syndrome
#8
Martine Uittenbogaard, Christine A Brantner, ZiShui Fang, Lee-Jun C Wong, Andrea Gropman, Anne Chiaramello
In this study, we report a novel perpective of metabolic consequences for the m.8993T>G variant using fibroblasts from a proband with clinical symptoms compatible with Maternally Inherited Leigh Syndrome (MILS). Definitive diagnosis was corroborated by mitochondrial DNA testing for the pathogenic variant m.8993T>G in MT-ATP6 subunit by Sanger sequencing. The long-range PCR followed by massively parallel sequencing method detected the near homoplasmic m.8993T>G variant at 83% in the proband's fibroblasts and at 0...
March 27, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29560378/phenotypic-heterogeneity-in-m-3243a-g-mitochondrial-disease-the-role-of-nuclear-factors
#9
Sarah J Pickett, John P Grady, Yi Shiau Ng, Gráinne S Gorman, Andrew M Schaefer, Ian J Wilson, Heather J Cordell, Doug M Turnbull, Robert W Taylor, Robert McFarland
Objective: The pathogenic mitochondrial DNA m.3243A>G mutation is associated with a wide range of clinical features, making disease prognosis extremely difficult to predict. We aimed to understand the cause of this heterogeneity. Methods: We examined the phenotypic profile of 238 adult m.3243A>G carriers (patients and asymptomatic carriers) from the UK MRC Mitochondrial Disease Patient Cohort using the Newcastle Mitochondrial Disease Adult Scale. We modeled the role of risk factors for the development of specific phenotypes using proportional odds logistic regression...
March 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29547671/whole-genome-sequencing-of-brassica-oleracea-var-capitata-reveals-new-diversity-of-the-mitogenome
#10
Kiwoung Yang, Ujjal Kumar Nath, Manosh Kumar Biswas, Md Abdul Kayum, Go-Eun Yi, Jonghoon Lee, Tae-Jin Yang, Ill-Sup Nou
Plant mitochondrial genomes (mtDNAs) vary in sequence structure. We assembled the Brassica oleracea var. capitata mtDNA using a mean coverage depth of 25X whole genome sequencing (WGS) and confirmed the presence of eight contigs/fragments by BLASTZ using the previously reported KJ820683 and AP012988 mtDNA as reference. Assembly of the mtDNA sequence reads resulted in a circular structure of 219,975 bp. Our assembled mtDNA, NCBI acc. no. KU831325, contained 34 protein-coding genes, 3 rRNA genes, and 19 tRNA genes with similarity to the KJ820683 and AP012988 reference mtDNA...
2018: PloS One
https://www.readbyqxmd.com/read/29535331/author-correction-talen-mediated-shift-of-mitochondrial-dna-heteroplasmy-in-melas-ipscs-with-m-13513-g-a-mutation
#11
Naoki Yahata, Yuji Matsumoto, Minoru Omi, Naoki Yamamoto, Ryuji Hata
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has not been fixed in the paper.
March 13, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29512743/leigh-syndrome-t8993c-mitochondrial-dna-mutation-heteroplasmy-and-the-first-clinical-presentation-in-a-vietnamese-family
#12
Chamara Arachchighe Lahiru Weerasinghe, Bich-Hong Thi Bui, Thu Thi Vu, Hong-Loan Thi Nguyen, Bao-Khanh Phung, Van-Minh Nguyen, Van-Anh Pham, Vu-Hung Cao, Tuan-Nghia Phan
Leigh syndrome is a rare inherited, heterogeneous and progressive neurometabolic disorder that is mainly caused by specific mutations in nuclear DNA (nDNA) or mitochondrial DNA (mtDNA). The present study reported a case of childhood Leigh syndrome with a point mutation at bp 8,993 in the mitochondrial ATPase6 gene. A 21‑month‑old male child had developed epilepsy, muscular weakness and vomiting, which was accompanied by high fever. Magnetic resonance imaging indicated typical characteristics of Leigh syndrome, including a symmetric abnormal signal in the dorsal medulla oblongata and Sylvian fissure enlargement in association with an abnormal signal in the periventricular white matter and in the putamina and caudate heads...
May 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29501485/cpeo-like-mitochondrial-myopathy-associated-with-m-8340g-a-mutation
#13
Mark A Tarnopolsky, Arun N E Sundaram, John Provias, Lauren Brady, Bekim Sadikovic
Two patients with an m.8340G>A mitochondrial DNA variant have been reported with one patient showing ptosis, ophthalmoparesis and myopathy at 53% heteroplasmy and another with pigmentary retinopathy, cataracts and sensory neural deafness and slightly higher heteroplasmy (65%). Here we report that higher muscle mutant heteroplasmy (93%) for m.8340G>A is associated with ptosis, ophthalmoparesis and mitochondrial myopathy, thus confirming the initial phenotypic association and showing that heteroplasmy per se does not explain the phenotypic spectrum of disease associated with the m...
March 6, 2018: Mitochondrion
https://www.readbyqxmd.com/read/29501375/complex-taxonomy-of-the-brush-tail-peregrine-earthworm-pontoscolex-corethrurus
#14
S Taheri, S James, V Roy, T Decaëns, B W Williams, F Anderson, R Rougerie, C-H Chang, G Brown, L Cunha, D W G Stanton, E Da Silva, J-H Chen, A R Lemmon, E Moriarty Lemmon, M Bartz, D Baretta, I Barois, E Lapied, M Coulis, L Dupont
Pontoscolex corethrurus is the most widespread earthworm species in tropical and sub-tropical zones and one of the most studied in soil science. Although, ecological interactions of P. corethrurus with its environment are well documented, the taxonomic status of the species remains unclear. In this study, we investigated phylogenetic relationships within the genus Pontoscolex, in particular focusing on morphologically indistinguishable (i.e., cryptic) lineages. A total of 792 specimens collected from 25 different countries and islands all over the world were analyzed using two mitochondrial (COI and 16S rDNA) and two nuclear (internal transcribed spacers 2 and 28S rDNA) markers, and a total of 11 morphological characters both internal and external were investigated in all genetically characterized lineages...
July 2018: Molecular Phylogenetics and Evolution
https://www.readbyqxmd.com/read/29495418/deep-coverage-mps-analysis-of-heteroplasmic-variants-within-the-mtgenome-allows-for-frequent-differentiation-of-maternal-relatives
#15
Mitchell M Holland, Kateryna D Makova, Jennifer A McElhoe
Abstract : Distinguishing between maternal relatives through mitochondrial (mt) DNA sequence analysis has been a longstanding desire of the forensic community. Using a deep-coverage, massively parallel sequencing (DCMPS) approach, we studied the pattern of mtDNA heteroplasmy across the mtgenomes of 39 mother-child pairs of European decent; haplogroups H, J, K, R, T, U, and X. Both shared and differentiating heteroplasmy were observed on a frequent basis in these closely related maternal relatives, with the minor variant often presented as 2-10% of the sequencing reads...
February 26, 2018: Genes
https://www.readbyqxmd.com/read/29488130/mitochondria-its-dna-and-telomeres-in-ageing-and-human-population
#16
REVIEW
Egija Zole, Renāte Ranka
In the last decades, studies about ageing have become more essential as our population grows older. The incidence of age-related diseases increases, which pose challenges both for societies and individuals in terms of life quality and economic impact. Understanding ageing and ageing-related processes will help us to slow down or even prevent these diseases and provide opportunities for healthy ageing; additionally, we all want to live longer. Ageing is a consequence of the interaction between processes that occur over time and genetics interacting with various disease states and an individual's lifestyle...
February 28, 2018: Biogerontology
https://www.readbyqxmd.com/read/29483551/somatic-mitochondrial-dna-mutations-in-diffuse-large-b-cell-lymphoma
#17
Andy G X Zeng, Andy C Y Leung, Angela R Brooks-Wilson
Diffuse Large B-Cell Lymphoma (DLBCL) is an aggressive hematological cancer for which mitochondrial metabolism may play an important role. Mitochondrial DNA (mtDNA) encodes crucial mitochondrial proteins, yet the relationship between mtDNA and DLBCL remains unclear. We analyzed the functional consequences and mutational spectra of mtDNA somatic mutations and private constitutional variants in 40 DLBCL tumour-normal pairs. While private constitutional variants occurred frequently in the D-Loop, somatic mutations were randomly distributed across the mitochondrial genome...
February 26, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29479304/the-decrease-in-mitochondrial-dna-mutation-load-parallels-visual-recovery-in-a-leber-hereditary-optic-neuropathy-patient
#18
Sonia Emperador, Mariona Vidal, Carmen Hernández-Ainsa, Cristina Ruiz-Ruiz, Daniel Woods, Ana Morales-Becerra, Jorge Arruga, Rafael Artuch, Ester López-Gallardo, M Pilar Bayona-Bafaluy, Julio Montoya, Eduardo Ruiz-Pesini
The onset of Leber hereditary optic neuropathy is relatively rare in childhood and, interestingly, the rate of spontaneous visual recovery is very high in this group of patients. Here, we report a child harboring a rare pathological mitochondrial DNA mutation, present in heteroplasmy, associated with the disease. A patient follow-up showed a rapid recovery of the vision accompanied by a decrease of the percentage of mutated mtDNA. A retrospective study on the age of recovery of all childhood-onset Leber hereditary optic neuropathy patients reported in the literature suggested that this process was probably related with pubertal changes...
2018: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29474538/how-the-most-common-mitochondrial-dna-mutation-m-3243a-g-vanishes-from-leukocytes-a-mathematical-model
#19
Reiner A Veitia
Mitochondrial diseases may be caused by alterations of the mitochondrial genome. The pathogenic variant m.3243A>G is one of the most frequent causes of mitochondrial disease and the most common mitochondrial DNA mutation. Patients with a variant in mitochondrial DNA can have a mixture of mutated and wild-type genomes (heteroplasmy). In the case of the pathogenic variant m.3243A>G, the degree of heteroplasmy (H) correlates to some extent with the severity of the disease. Several longitudinal studies, where H is measured at two different time-points, have shown an annual decline in leukocyte H values...
May 1, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29471503/the-role-of-the-reprogramming-method-and-pluripotency-state-in-gamete-differentiation-from-patient-specific-human-pluripotent-stem-cells
#20
S Mishra, E Kacin, P Stamatiadis, S Franck, M Van der Jeught, H Mertes, G Pennings, P De Sutter, K Sermon, B Heindryckx, M Geens
The derivation of gametes from patient-specific pluripotent stem cells may provide new perspectives for genetic parenthood for patients currently facing sterility. We use current data to assess the gamete differentiation potential of patient-specific pluripotent stem cells and to determine which reprogramming strategy holds the greatest promise for future clinical applications. First, we compare the two best established somatic cell reprogramming strategies: the production of induced pluripotent stem cells (iPSC) and somatic cell nuclear transfer followed by embryonic stem cell derivation (SCNT-ESC)...
April 1, 2018: Molecular Human Reproduction
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