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Heteroplasmy

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https://www.readbyqxmd.com/read/28592659/mitochondrial-dna-3243a-g-heteroplasmy-is-associated-with-changes-in-cytoskeletal-protein-expression-and-cell-mechanics
#1
Judith Kandel, Martin Picard, Douglas C Wallace, David M Eckmann
Mitochondrial and mechanical alterations in cells have both been shown to be hallmarks of human disease. However, little research has endeavoured to establish connections between these two essential features of cells in both functional and dysfunctional situations. In this work, we hypothesized that a specific genetic alteration in mitochondrial function known to cause human disease would trigger changes in cell mechanics. Using a previously characterized set of mitochondrial cybrid cell lines, we examined the relationship between heteroplasmy for the mitochondrial DNA (mtDNA) 3243A>G mutation, the cell cytoskeleton, and resulting cellular mechanical properties...
June 2017: Journal of the Royal Society, Interface
https://www.readbyqxmd.com/read/28579605/aging-reversal-and-healthy-longevity-is-in-reach-dependence-on-mitochondrial-dna-heteroplasmy-as-a-key-molecular-target
#2
George B Stefano, Richard M Kream
Recent trends in biomedical research have highlighted the potential for effecting significant extensions in longevity with enhanced quality of life in aging human populations. Within this context, any proposed method to achieve enhanced life extension must include therapeutic approaches that draw upon essential biochemical and molecular regulatory processes found in relatively simple single cell organisms that are evolutionarily conserved within complex organ systems of higher animals. Current critical thinking has established the primacy of mitochondrial function in maintaining good health throughout plant and animal phyla...
June 5, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28573363/-risk-genes-in-myopathies-and-mitochondrial-diseases
#3
REVIEW
C Stendel, M C Walter, T Klopstock
Myopathies and mitochondrial diseases pose a major challenge in diagnosis due to the multitude of different entities and - in the case of mitochondriopathies - the possible involvement of multiple organs. Furthermore, there is broad clinical variability within particular diseases; patients with hereditary myopathy, for example, can show great phenotypic variability despite identical genetic defects. In addition to environmental factors, gender-specific influences, and the degree of heteroplasmy in mitochondrial diseases, the existence of disease-modifying genes has long been assumed as an explanation...
June 1, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28566160/bilateral-striatal-necrosis-caused-by-a-founder-mitochondrial-14459g-a-mutation-in-two-independent-japanese-families
#4
Kimitoshi Hirayanagi, Yuji Okamoto, Eriko Takai, Kunihiko Ishizawa, Kouki Makioka, Yukio Fujita, Yuka Kaneko, Makoto Tanaka, Hiroshi Takashima, Yoshio Ikeda
Bilateral striatal necrosis (BSN) has many causes and is characterized by unique clinical and neuroradiological features. Herein, we report a clinical and genetic analysis of three BSN cases from two independent Japanese families harboring a mitochondrial DNA (mtDNA) 14459G>A mutation located in a coding region of the NADH dehydrogenase subunit 6 gene. In the first family, two male siblings from non-consanguineous parents exhibited similar phenotypes, with infantile-onset generalized dystonia. A third sporadic case involved a male patient with a comparatively milder phenotype characterized by juvenile-onset mild truncal ataxia and parkinsonism...
July 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28551808/mitochondrial-heteroplasmy
#5
George B Stefano, Christina Bjenning, Fuzhou Wang, Nan Wang, Richard M Kream
Genetic polymorphisms, in concert with well-characterized etiology and progression of major pathologies, plays a significant role in aberrant processes afflicting human populations. Mitochondrial heteroplasmy represents a dynamically determined co-expression of inherited polymorphisms and somatic pathology in varying ratios within individual mitochondrial DNA (mtDNA) genomes with repetitive patterns of tissue specificity. The ratios of the MtDNA genomes represent a balance between healthy and pathological cellular outcomes...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28551783/mitochondrial-mutations-in-cardiac-disorders
#6
Sung Ryul Lee, Jin Han
Mitochondria individually encapsulate their own genome, unlike other cellular organelles. Mitochondrial DNA (mtDNA) is a circular, double-stranded, 16,569-base paired DNA containing 37 genes: 13 proteins of the mitochondrial respiratory chain, two ribosomal RNAs (rRNAs; 12S and 16S), and 22 transfer RNAs (tRNAs). The mtDNA is more vulnerable to oxidative modifications compared to nuclear DNA because of its proximity to ROS-producing sites, limited presence of DNA damage repair systems, and continuous replication in the cell...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28545995/systematic-studies-on-ciliates-alveolata-ciliophora-in-china-progress-and-achievements-based-on-molecular-information
#7
REVIEW
Feng Gao, Jie Huang, Yan Zhao, Lifang Li, Weiwei Liu, Miao Miao, Qianqian Zhang, Jiamei Li, Zhenzhen Yi, Hamed A El-Serehy, Alan Warren, Weibo Song
Due to complex morphological and convergent morphogenetic characters, the systematics of ciliates has long been ambiguous. Since 1990, the Laboratory of Protozoology, Ocean University of China, in collaboration with other research groups worldwide, has carried out a series of integrative investigations on ciliate systematics. To date, genomic DNA has been extracted from about 1700 ciliate strains, and phylogenetic analyses have been performed for two-thirds of orders. Main findings are: (1) Classifications of about 50 hypotrichous species have been resolved, although the monophylies of three hypotrichous orders remain unconfirmed; (2) Euplotia and two orders and all seven families within them are monophyletic assemblages; (3) Lynnella represents an order-level taxon, and is separated from two sister monophyletic subclasses Oligotrichia and Choreotrichia; (4) the peritrich families Zoothamniidae and Vorticellidae are separated from each other, and Zoothamnium exhibits a high genetic diversity; (5) the scuticociliate order Philasterida is monophyletic and separated from loxocephalids, and the thigmotrichids is a suborder within Pleuronematida; (6) 14 classes were recovered including one new class Protocruziea, and Mesodiniea is basal to subphyla Intramacronucleata and Postciliodesmatophora; (7) mitochondrial cytochrome c oxidase subunit I heteroplasmy was reported in ciliates for the first time, and candidate barcoding genes for Frontonia species identification were identified...
May 6, 2017: European Journal of Protistology
https://www.readbyqxmd.com/read/28521807/case-report-a-novel-frameshift-mutation-in-the-mitochondrial-cytochrome-c-oxidase-ii-gene-causing-mitochondrial-disorder
#8
Laura Kytövuori, Mikko Kärppä, Hannu Tuominen, Johanna Uusimaa, Markku Saari, Reetta Hinttala, Kari Majamaa
BACKGROUND: Mitochondrial cytochrome c oxidase 2, MT-CO2, encodes one of the three subunits, which form the catalytic core of cytochrome c oxidase (COX), complex IV. Mutations in MT-CO2 are rare and the associated phenotypes are variable including nonsyndromic and syndromic forms of mitochondrial diseases. CASE PRESENTATION: We describe a 30-year-old man with cognitive decline, epilepsy, psychosis, exercise intolerance, sensorineural hearing impairment, retinitis pigmentosa, cataract and lactic acidosis...
May 18, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28521548/mitochondrial-dna-heteroplasmy-in-cardiac-tissue-from-individuals-with-and-without-coronary-artery-disease
#9
Erik Hefti, Javier Guillermo Blanco
The cellular environment associated with coronary artery disease (CAD) can lead to mitochondrial DNA (mtDNA) damage. Mitochondrial variants in some copies of mtDNA (heteroplasmy) and mtDNA content are potential genetic biomarkers for CAD-associated disease states. Massively parallel sequencing and qRT-PCR techniques were used to measure heteroplasmic variants and mtDNA content in heart samples from donors with (n = 8) and without (n = 7) documented CAD. Both groups showed increased numbers of heteroplasmic mtDNA variants in the control region (CR) (p < ...
May 19, 2017: Mitochondrial DNA. Part A. DNA Mapping, Sequencing, and Analysis
https://www.readbyqxmd.com/read/28487526/frequent-heteroplasmy-and-recombination-in-the-mitochondrial-genomes-of-the-basidiomycete-mushroom-thelephora-ganbajun
#10
Pengfei Wang, Tao Sha, Yunrun Zhang, Yang Cao, Fei Mi, Cunli Liu, Dan Yang, Xiaozhao Tang, Xiaoxia He, Jianyong Dong, Jinyan Wu, Shanze Yoell, Liam Yoell, Ke-Qin Zhang, Ying Zhang, Jianping Xu
In the majority of sexual eukaryotes, the mitochondrial genomes are inherited uniparentally. As a result, individual organisms are homoplasmic, containing mitochondrial DNA (mtDNA) from a single parent. Here we analyzed the mitochondrial genotypes in Clade I of the gourmet mushroom Thelephora ganbajun from its broad geographic distribution range. A total of 299 isolates from 28 geographic locations were sequenced at three mitochondrial loci: the mitochondrial small ribosomal RNA gene, and the cytochrome c oxidase subunits I (COX1) and III (COX3) genes...
May 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28460352/characterization-of-nist-human-mitochondrial-dna-srm-2392-and-srm-2392-i-standard-reference-materials-by-next-generation-sequencing
#11
Sarah Riman, Kevin M Kiesler, Lisa A Borsuk, Peter M Vallone
Standard Reference Materials SRM 2392 and 2392-I are intended to provide quality control when amplifying and sequencing human mitochondrial genome sequences. The National Institute of Standards and Technology (NIST) offers these SRMs to laboratories performing DNA-based forensic human identification, molecular diagnosis of mitochondrial diseases, mutation detection, evolutionary anthropology, and genetic genealogy. The entire mtGenome (∼16569bp) of SRM 2392 and 2392-I have previously been characterized at NIST by Sanger sequencing...
April 15, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28457515/terminal-restriction-fragment-length-polymorphism-profiling-of-bacterial-flora-derived-from-single-human-hair-shafts-can-discriminate-individuals
#12
Eiji Nishi, Kota Watanabe, Yukihiro Tashiro, Kenji Sakai
Human hairs are the trace evidence most commonly encountered at many crime scenes. However, they have not been effectively utilized for actual criminal investigations because of the low accuracy of their morphological inspection, low detection rate of short tandem repeat (STR) typing, and the problem of heteroplasmy in mitochondrial DNA analysis. Here, we examined the possibility of individual discrimination by comparing profiles of bacterial flora on hair. We carried out the profiling of terminal restriction fragment length polymorphisms (T-RFLP) of the amplified bacterial 16S ribosomal RNA (rRNA) gene from hair samples...
March 2017: Legal Medicine
https://www.readbyqxmd.com/read/28441938/mitors-a-method-for-high-throughput-sensitive-and-accurate-detection-of-mitochondrial-dna-heteroplasmy
#13
Julien Marquis, Gregory Lefebvre, Yiannis A I Kourmpetis, Mohamed Kassam, Frédéric Ronga, Umberto De Marchi, Andreas Wiederkehr, Patrick Descombes
BACKGROUND: Mitochondrial dysfunction is linked to numerous pathological states, in particular related to metabolism, brain health and ageing. Nuclear encoded gene polymorphisms implicated in mitochondrial functions can be analyzed in the context of classical genome wide association studies. By contrast, mitochondrial DNA (mtDNA) variants are more challenging to identify and analyze for several reasons. First, contrary to the diploid nuclear genome, each cell carries several hundred copies of the circular mitochondrial genome...
April 26, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28405177/mapping-mitochondrial-heteroplasmy-in-a-leydig-tumor-by-laser-capture-micro-dissection-and-cycling-temperature-capillary-electrophoresis
#14
Paulo Refinetti, Christian Arstad, William G Thilly, Stephan Morgenthaler, Per Olaf Ekstrøm
BACKGROUND: The growth of tumor cells is accompanied by mutations in nuclear and mitochondrial genomes creating marked genetic heterogeneity. Tumors also contain non-tumor cells of various origins. An observed somatic mitochondrial mutation would have occurred in a founding cell and spread through cell division. Micro-anatomical dissection of a tumor coupled with assays for mitochondrial point mutations permits new insights into this growth process. More generally, the ability to detect and trace, at a histological level, somatic mitochondrial mutations in human tissues and tumors, makes these mutations into markers for lineage tracing...
2017: BMC Clinical Pathology
https://www.readbyqxmd.com/read/28393270/mitochondrial-dna-variants-in-colorectal-carcinogenesis-drivers-or-passengers
#15
REVIEW
Edoardo Errichiello, Tiziana Venesio
INTRODUCTION: Mitochondrial DNA alterations have widely been reported in many age-related degenerative diseases and tumors, including colorectal cancer. In the past few years, the discovery of inter-genomic crosstalk between nucleus and mitochondria has reinforced the role of mitochondrial DNA variants in perturbing this essential signaling pathway and thus indirectly targeting nuclear genes involved in tumorigenic and invasive phenotype. FINDINGS: Mitochondrial dysfunction is currently considered a crucial hallmark of carcinogenesis as well as a promising target for anticancer therapy...
April 9, 2017: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/28391756/problems-in-mitochondrial-dna-forensics-while-interpreting-length-heteroplasmy-conundrum-of-various-sindhi-and-baluchi-ethnic-groups-of-pakistan
#16
Shahzad Bhatti, Muhammad Aslam Khan, Sana Abbas, Marcella Attimonelli, Gerardo Rodriguez Gonzalez, Hikmet Hakan Aydin, Erica Martinha Silva de Souza
The insight heterodox genetics of mtDNA infer new perspectives at the level of human mitochondrial control region heteroplasmy, which is substantial in evolutionary as well as forensic interpretation. The main goal of this study is to interrogate the recurrence and resolve the ambiguity of blurry spectrum of heteroplasmy in the human mtDNA control region of 50 Baluchi and 116 Sindhi unrelated individuals. Sanger sequencing was employed classically, that was further investigated by minisequencing. Only 20% Baluchi and 25...
April 9, 2017: Mitochondrial DNA. Part A. DNA Mapping, Sequencing, and Analysis
https://www.readbyqxmd.com/read/28385334/live-birth-derived-from-oocyte-spindle-transfer-to-prevent-mitochondrial-disease
#17
John Zhang, Hui Liu, Shiyu Luo, Zhuo Lu, Alejandro Chávez-Badiola, Zitao Liu, Mingxue Yang, Zaher Merhi, Sherman J Silber, Santiago Munné, Michalis Konstandinidis, Dagan Wells, Taosheng Huang
Mutations in mitochondrial DNA (mtDNA) are maternally inherited and can cause fatal or debilitating mitochondrial disorders. The severity of clinical symptoms is often associated with the level of mtDNA mutation load or degree of heteroplasmy. Current clinical options to prevent transmission of mtDNA mutations to offspring are limited. Experimental spindle transfer in metaphase II oocytes, also called mitochondrial replacement therapy, is a novel technology for preventing mtDNA transmission from oocytes to pre-implantation embryos...
April 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28364540/mitochondrial-mutation-rate-spectrum-and-heteroplasmy-in-caenorhabditis-elegans-spontaneous-mutation-accumulation-lines-of-differing-population-size
#18
(no author information available yet)
No abstract text is available yet for this article.
March 1, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/28340313/linkage-between-mitochondrial-genome-alterations-telomere-length-and-aging-population
#19
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
#20
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
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