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https://www.readbyqxmd.com/read/28728055/investigation-of-length-heteroplasmy-in-mitochondrial-dna-control-region-by-massively-parallel-sequencing
#1
Chun-Yen Lin, Li-Chin Tsai, Hsing-Mei Hsieh, Chia-Hung Huang, Yu-Jen Yu, Bill Tseng, Adrian Linacre, James Chun-I Lee
Accurate sequencing of the control region of the mitochondrial genome is notoriously difficult due to the presence of polycytosine bases, termed C-tracts. The precise number of bases that constitute a C-tract and the bases beyond the poly cytosines may not be accurately defined when analyzing Sanger sequencing data separated by capillary electrophoresis. Massively parallel sequencing has the potential to resolve such poor definition and provides the opportunity to discover variants due to length heteroplasmy...
July 10, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28717049/regulation-of-small-mitochondrial-dna-replicative-advantage-by-ribonucleotide-reductase-in-saccharomyces-cerevisiae
#2
Elliot Bradshaw, Minoru Yoshida, Feng Ling
Small mitochondrial genomes can behave as selfish elements by displacing wild-type genomes regardless of their detriment to the host organism. In the budding yeast Saccharomyces cerevisiae, small hypersuppressive mtDNA transiently co-exist with wild-type in a state of heteroplasmy, wherein the replicative advantage of the small mtDNA outcompetes wild-type and produces offspring without respiratory capacity in >95% of colonies. The cytosolic enzyme ribonucleotide reductase (RNR) catalyzes the rate-limiting step in dNTP synthesis and its inhibition has been correlated with increased petite colony formation, reflecting loss of respiratory function...
July 17, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28713835/rapid-detection-of-the-mt3243a%C3%A2-%C3%A2-g-mutation-using-urine-sediment-in-elderly-chinese-type-2-diabetic-patients
#3
Yinan Zhang, Xiujuan Du, Xinqian Geng, Chen Chu, Huijuan Lu, Yixie Shen, Ruihua Chen, Pingyan Fang, Yanmei Feng, Xiaojie Zhang, Yan Chen, Yanping Zhou, Congrong Wang, Weiping Jia
OBJECTIVE: In this study, we aimed to identify mt3243A > G mutation carriers in a group of Chinese elderly type 2 diabetic patients by a rapid and noninvasive diagnostic system. METHODS: DNA was extracted from blood, saliva, and urine sediment samples. The mutation screening and quantitation of heteroplasmy were performed by high-resolution melting (HRM) curve and pyrosequencing, respectively. Patients with mt3243A > G mutation underwent a detailed audiometric, ophthalmologic, neurological, and cardiac examination...
2017: Journal of Diabetes Research
https://www.readbyqxmd.com/read/28698307/origins-of-mtdna-mutations-in-ageing
#4
REVIEW
Karolina Szczepanowska, Aleksandra Trifunovic
MtDNA mutations are one of the hallmarks of ageing and age-related diseases. It is well established that somatic point mutations accumulate in mtDNA of multiple organs and tissues with increasing age and heteroplasmy is universal in mammals. However, the origin of these mutations remains controversial. The long-lasting hypothesis stating that mtDNA mutations emanate from oxidative damage via a self-perpetuating mechanism has been extensively challenged in recent years. Contrary to this initial ascertainment, mtDNA appears to be well protected from action of reactive oxygen species (ROS) through robust protein coating and endomitochondrial microcompartmentalization...
July 15, 2017: Essays in Biochemistry
https://www.readbyqxmd.com/read/28692123/mitochondrial-dna-control-region-analysis-of-three-ethnic-populations-in-lower-northern-part-of-thailand
#5
U Suyasunanont, M Nakkuntod, S Mirasena
The lower northern part of Thailand contains various genetically diverse ethnic populations. The sequences of the mitochondrial DNA hypervariable region were studied in three ethnic populations inhabiting Phitsanulok Province. One hundred and nine nucleotide sequences - 53, 29, and 27 from Hmongs (Hill tribe), Lao Songs, and Thai-Siams, respectively - were collected. The haplotypes were generated from 1130 nucleotides of the entire control region. Eighty-six haplotypes were found in the three ethnic populations, and no shared haplotypes were found between populations...
July 6, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28679546/untangling-heteroplasmy-structure-and-evolution-of-an-atypical-mitochondrial-genome-by-pacbio-sequencing
#6
Jean Peccoud, Mohamed Amine Chebbi, Alexandre Cormier, Bouziane Moumen, Clément Gilbert, Isabelle Marcadé, Christopher Chandler, Richard Cordaux
The highly compact mitochondrial genome of terrestrial isopods (Oniscidae) presents two unusual features. First, several loci can individually encode two tRNAs, thanks to single-nucleotide polymorphisms at anticodon sites. Within-individual variation (heteroplasmy) at these loci is thought to have been maintained for millions of years because individuals that do not carry all tRNA genes die, resulting in strong balancing selection. Second, the oniscid mtDNA genome comes in two conformations: a ~14kb linear monomer and a ~28kb circular dimer comprising two monomer units fused in palindrome...
July 5, 2017: Genetics
https://www.readbyqxmd.com/read/28668821/preimplantation-genetic-diagnosis-for-mitochondrial-dna-mutations-analysis-of-one-blastomere-suffices
#7
Suzanne C E H Sallevelt, Joseph C F M Dreesen, Edith Coonen, Aimee D C Paulussen, Debby M E I Hellebrekers, Christine E M de Die-Smulders, Hubert J M Smeets, Patrick Lindsey
BACKGROUND: Preimplantation genetic diagnosis (PGD) is a reproductive strategy for mitochondrial DNA (mtDNA) mutation carriers, strongly reducing their risk of affected offspring. Embryos either without the mutation or with mutation load below the phenotypic threshold are transferred to the uterus. Because of incidental heteroplasmy deviations in single blastomere and the relatively limited data available, we so far preferred relying on two blastomeres rather than one. Considering the negative effect of a two-blastomere biopsy protocol compared with a single-blastomere biopsy protocol on live birth delivery rate, we re-evaluated the error rate in our current dataset...
July 1, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28640391/selective-sweeps-of-mitochondrial-dna-can-drive-the-evolution-of-uniparental-inheritance
#8
Joshua R Christie, Madeleine Beekman
While the uniparental (or maternal) inheritance of mitochondrial DNA (mtDNA) is widespread, the reasons for its evolution remain unclear. Two main hypotheses have been proposed: selection against individuals containing different mtDNAs (heteroplasmy) and selection against "selfish" mtDNA mutations. Recently, uniparental inheritance was shown to promote adaptive evolution in mtDNA, potentially providing a third hypothesis for its evolution. Here we explore this hypothesis theoretically and ask if the accumulation of beneficial mutations provides a sufficient fitness advantage for uniparental inheritance to invade a population in which mtDNA is inherited biparentally...
June 22, 2017: Evolution; International Journal of Organic Evolution
https://www.readbyqxmd.com/read/28592659/mitochondrial-dna-3243a-g-heteroplasmy-is-associated-with-changes-in-cytoskeletal-protein-expression-and-cell-mechanics
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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...
July 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
#20
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
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