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Heteroplasmy

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https://www.readbyqxmd.com/read/28521807/case-report-a-novel-frameshift-mutation-in-the-mitochondrial-cytochrome-c-oxidase-ii-gene-causing-mitochondrial-disorder
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
(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
#12
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
#13
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
#14
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
#15
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
#16
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...
April 28, 2017: Annual Review of Plant Biology
https://www.readbyqxmd.com/read/28224084/low-blood-heteroplasmy-rate-may-cause-late-onset-melas
#17
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
#18
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
#19
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
#20
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
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