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https://www.readbyqxmd.com/read/29332303/mitochondrial-dna-nuclear-context-and-the-risk-for-carcinogenesis
#1
REVIEW
Brett A Kaufman, Martin Picard, Neal Sondheimer
The inheritance of mitochondrial DNA (mtDNA) from mother to child is complicated by differences in the stability of the mitochondrial genome. Although the germ line mtDNA is protected through the minimization of replication between generations, sequence variation can occur either through mutation or due to changes in the ratio between distinct genomes that are present in the mother (known as heteroplasmy). Thus, the unpredictability in transgenerational inheritance of mtDNA may cause the emergence of pathogenic mitochondrial and cellular phenotypes in offspring...
January 14, 2018: Environmental and Molecular Mutagenesis
https://www.readbyqxmd.com/read/29318513/targeted-elimination-of-mutant-mitochondrial-dna-in-melas-ipscs-by-mitotalens
#2
Yi Yang, Han Wu, Xiangjin Kang, Yanhui Liang, Ting Lan, Tianjie Li, Tao Tan, Jiangyun Peng, Quanjun Zhang, Geng An, Yali Liu, Qian Yu, Zhenglai Ma, Ying Lian, Boon Seng Soh, Qingfeng Chen, Ping Liu, Yaoyong Chen, Xiaofang Sun, Rong Li, Xiumei Zhen, Ping Liu, Yang Yu, Xiaoping Li, Yong Fan
Mitochondrial diseases are maternally inherited heterogeneous disorders that are primarily caused by mitochondrial DNA (mtDNA) mutations. Depending on the ratio of mutant to wild-type mtDNA, known as heteroplasmy, mitochondrial defects can result in a wide spectrum of clinical manifestations. Mitochondria-targeted endonucleases provide an alternative avenue for treating mitochondrial disorders via targeted destruction of the mutant mtDNA and induction of heteroplasmic shifting. Here, we generated mitochondrial disease patient-specific induced pluripotent stem cells (MiPSCs) that harbored a high proportion of m...
January 9, 2018: Protein & Cell
https://www.readbyqxmd.com/read/29299381/the-m-7510t-c-mutation-hearing-impairment-and-a-complex-neurologic-phenotype
#3
Laura Kytövuori, Maria Gardberg, Kari Majamaa, Mika H Martikainen
Objectives: Mutations in mitochondrial DNA cause a variety of clinical phenotypes ranging from a mild hearing impairment (HI) to severe encephalomyopathy. The MT-TS1 gene is a hotspot for mutations causing HI. The m.7510T>C mutation in MT-TS1 has been previously associated with non-syndromic HI in four families from different ethnic backgrounds. Materials and Methods: We describe the clinical, genetic, and histopathological findings in a Finnish family with the heteroplasmic m...
December 2017: Brain and Behavior
https://www.readbyqxmd.com/read/29279961/assessment-of-mitochondrial-dna-heteroplasmy-detected-on-commercial-panel-using-mps-system-with-artificial-mixture-samples
#4
Sohee Cho, Moon Young Kim, Ji Hyun Lee, Soong Deok Lee
Mitochondrial DNA (mtDNA) heteroplasmy is a potential genetic marker for forensic mtDNA analysis as well as phylogenic studies. Frequency of mtDNA heteroplasmy has been investigated in different populations through massively parallel sequencing (MPS) analysis, revealing various levels of frequency based on different MPS systems. For accurate heteroplasmy identification, it is essential to explore reliable detection threshold on various MPS systems. In addition, software solutions and pipelines need to be evaluated to analyze data effectively...
December 26, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/29247128/mitochondrial-genetic-variation-and-gout-in-m%C3%A4-ori-and-pacific-people-living-in-aotearoa-new-zealand
#5
Anna L Gosling, James Boocock, Nicola Dalbeth, Jennie Harré Hindmarsh, Lisa K Stamp, Eli A Stahl, Hyon K Choi, Elizabeth A Matisoo-Smith, Tony R Merriman
OBJECTIVE: Mitochondria have an important role in the induction of the NLRP3 inflammasome response central in gout. The objective was to test whether mitochondrial genetic variation and copy number in New Zealand Māori and Pacific (Polynesian) people in Aotearoa New Zealand associate with susceptibility to gout. METHODS: 437 whole mitochondrial genomes from Māori and Pacific people (predominantly men) from Aotearoa New Zealand (327 people with gout, 110 without gout) were sequenced...
December 15, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/29219266/-whole-genome-sequencing-of-human-mtdna-based-on-ion-torrent-pgm%C3%A2-platform
#6
Y Cao, K N Zou, J P Huang, K Ma, Y Ping
OBJECTIVES: To analyze and detect the whole genome sequence of human mitochondrial DNA (mtDNA) by Ion Torrent PGM™ platform and to study the differences of mtDNA sequence in different tissues. METHODS: Samples were collected from 6 unrelated individuals by forensic postmortem examination, including chest blood, hair, costicartilage, nail, skeletal muscle and oral epithelium. Amplification of whole genome sequence of mtDNA was performed by 4 pairs of primer...
August 2017: Fa Yi Xue za Zhi
https://www.readbyqxmd.com/read/29212019/pervasive-within-mitochondrion-single-nucleotide-variant-heteroplasmy-as-revealed-by-single-mitochondrion-sequencing
#7
Jacqueline Morris, Young-Ji Na, Hua Zhu, Jae-Hee Lee, Hoa Giang, Alexandra V Ulyanova, Gordon H Baltuch, Steven Brem, H Isaac Chen, David K Kung, Timothy H Lucas, Donald M O'Rourke, John A Wolf, M Sean Grady, Jai-Yoon Sul, Junhyong Kim, James Eberwine
A number of mitochondrial diseases arise from single-nucleotide variant (SNV) accumulation in multiple mitochondria. Here, we present a method for identification of variants present at the single-mitochondrion level in individual mouse and human neuronal cells, allowing for extremely high-resolution study of mitochondrial mutation dynamics. We identified extensive heteroplasmy between individual mitochondrion, along with three high-confidence variants in mouse and one in human that were present in multiple mitochondria across cells...
December 5, 2017: Cell Reports
https://www.readbyqxmd.com/read/29187876/heteroplasmy-and-copy-number-variations-of-mitochondria-in-88-hepatocellular-carcinoma-individuals
#8
Weiyang Li, Yanwei Qi, Xiaofang Cui, Yuhui Sun, Qing Huo, Yan Yang, Xinyuan Wen, Meihua Tan, Shiyi Du, Huali Zhang, Meng Zhang, Chuanxin Liu, Qingsheng Kong
Hepatocellular carcinoma (HCC) is the third leading cause of cancer mortality worldwide. In this study, we had analysed the copy number variations and heteroplasmic mutations of mitochondria (MT) in 88 HCC individuals. The average copy number of MT genome in normal samples was significantly greater than that in tumor samples. Overall, the number of heteroplasmic mutations in 88 tumor and their matched normal samples were 241 and 173, respectively. There was higher positive ratio of heteroplasmic mutations in tumor samples (86%) than normal samples (73%)...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/29178079/significance-of-mitochondria-dna-mutations-in-diseases
#9
Zhenhua Zhu, Xiangdong Wang
Mitochondria are essential double-membraned cytoplasmic organelles to support aerobic respiration and produce cellular energy by oxidative phosphorylation (OXPHOS). Mitochondrial functions are controlled by mitochondrial (mtDNA) and nuclear genomes (nDNA). Mutations of mtDNA result in mitochondrial dysfunction and multisystem diseases through compromising OXPHOS function directly by a point mutation or a large-scale mtDNA rearrangement. One or more of OXPHOS complexes are impaired and dysfunctional to affect tissues with high energy demands...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29157198/independent-impacts-of-aging-on-mitochondrial-dna-quantity-and-quality-in-humans
#10
Ruoyu Zhang, Yiqin Wang, Kaixiong Ye, Martin Picard, Zhenglong Gu
BACKGROUND: The accumulation of mitochondrial DNA (mtDNA) mutations, and the reduction of mtDNA copy number, both disrupt mitochondrial energetics, and may contribute to aging and age-associated phenotypes. However, there are few genetic and epidemiological studies on the spectra of blood mtDNA heteroplasmies, and the distribution of mtDNA copy numbers in different age groups and their impact on age-related phenotypes. In this work, we used whole-genome sequencing data of isolated peripheral blood mononuclear cells (PBMCs) from the UK10K project to investigate in parallel mtDNA heteroplasmy and copy number in 1511 women, between 17 and 85 years old, recruited in the TwinsUK cohorts...
November 21, 2017: BMC Genomics
https://www.readbyqxmd.com/read/29138463/talen-mediated-shift-of-mitochondrial-dna-heteroplasmy-in-melas-ipscs-with-m-13513g-a-mutation
#11
Naoki Yahata, Yuji Matsumoto, Minoru Omi, Naoki Yamamoto, Ryuji Hata
Induced pluripotent stem cells (iPSCs) are suitable for studying mitochondrial diseases caused by mitochondrial DNA (mtDNA) mutations. Here, we generated iPSCs from a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) with the m.13513G>A mutation. The patient's dermal fibroblasts were reprogrammed, and we established two iPSC clones with and without mutant mtDNA. Furthermore, we tried to decrease mutant mtDNA level in iPSCs using transcription activator-like effector nucleases (TALENs)...
November 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29128545/massive-parallel-sequencing-of-mitochondrial-dna-genomes-from-mother-child-pairs-using-the-ion-torrent-personal-genome-machine-pgm
#12
Ke Ma, Xueying Zhao, Hui Li, Yu Cao, Wei Li, Jian Ouyang, Lu Xie, Wenbin Liu
Mitochondrial genome analysis is a potent tool in forensic practice and in the understanding of human phylogeny in the maternal lineage. With the development of molecular biology and bioinformatics techniques, high-throughput sequencing has enabled mtDNA analysis during whole genome sequencing, which provides more comprehensive information and raises the power of discrimination. In this study, peripheral blood samples were taken from 194 mother-offspring pairs and sequenced by Ion Torrent Personal Genome Machine and obtained high-coverage mitochondrial sequencing data, demonstrating the mutation levels at each position in the mitochondrial DNA (mtDNA) between maternally related pairs...
November 6, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29118243/widespread-co-occurrence-of-two-distantly-related-mitochondrial-genomes-in-individuals-of-the-leaf-beetle-gonioctena-intermedia
#13
Chedly Kastally, Patrick Mardulyn
Mitochondrial genome heteroplasmy-the presence of more than one genomic variant in individuals-is considered only occasional in animals, and most often involves molecules differing only by a few recent mutations. Thanks to new sequencing technologies, a large number of DNA fragments from a single individual can now be sequenced and visualized separately, allowing new insights into intra-individual mitochondrial genome variation. Here, we report evidence from both (i) massive parallel sequencing (MPS) of genomic extracts and (ii) Sanger sequencing of PCR products, for the widespread co-occurrence of two distantly related (greater than 1% nucleotide divergence, excluding the control region) mitochondrial genomes in individuals of a natural population of the leaf beetle Gonioctena intermedia Sanger sequencing of PCR products using universal primers previously failed to identify heteroplasmy in this population...
November 2017: Biology Letters
https://www.readbyqxmd.com/read/29073898/sexual-conflict-explains-the-extraordinary-diversity-of-mechanisms-regulating-mitochondrial-inheritance
#14
Arunas L Radzvilavicius, Nick Lane, Andrew Pomiankowski
BACKGROUND: Mitochondria are predominantly inherited from the maternal gamete, even in unicellular organisms. Yet an extraordinary array of mechanisms enforce uniparental inheritance, which implies shifting selection pressures and multiple origins. RESULTS: We consider how this high turnover in mechanisms controlling uniparental inheritance arises using a novel evolutionary model in which control of mitochondrial transmission occurs either during spermatogenesis (by paternal nuclear genes) or at/after fertilization (by maternal nuclear genes)...
October 26, 2017: BMC Biology
https://www.readbyqxmd.com/read/29072135/detection-and-quantification-of-mitochondrial-dna-deletions-from-next-generation-sequence-data
#15
Colleen M Bosworth, Sneha Grandhi, Meetha P Gould, Thomas LaFramboise
BACKGROUND: Chromosomal deletions represent an important class of human genetic variation. Various methods have been developed to mine "next-generation" sequencing (NGS) data to detect deletions and quantify their clonal abundances. These methods have focused almost exclusively on the nuclear genome, ignoring the mitochondrial chromosome (mtDNA). Detecting mtDNA deletions requires special care. First, the chromosome's relatively small size (16,569 bp) necessitates the ability to detect extremely focal events...
October 16, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/29056761/disruption-of-doubly-uniparental-inheritance-of-mitochondrial-dna-associated-with-hybridization-area-of-european-mytilus-edulis-and-mytilus-trossulus-in-norway
#16
Beata Śmietanka, Artur Burzyński
Doubly uniparental inheritance of mitochondria (DUI) is best known in the blue mussel Mytilus. Under this model, two types of mitochondrial DNA exist: female type (F), transmitted from females to offspring of both genders, and male type (M), transmitted exclusively from males to sons. The mitogenomes are usually highly divergent, but an occasional replacement of a typical M genome by a particular F genome has been postulated to explain reduction of this divergence. Disruption of the DUI model has been reported in hybridization areas...
2017: Marine Biology
https://www.readbyqxmd.com/read/29054413/a-2-bp-deletion-in-the-mitochondrial-atp-6-gene-responsible-for-the%C3%A2-narp-neuropathy-ataxia-and-retinitis-pigmentosa-syndrome
#17
Patrick Mordel, Stéphane Schaeffer, Quentin Dupas, Marie-Alice Laville, Marion Gérard, Françoise Chapon, S Allouche
Mitochondrial (mt) DNA-associated NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) syndrome is due to mutation in the MT-ATP6 gene. We report the case of a 18-year-old man who presented with deafness, a myoclonic epilepsy, muscle weakness since the age of 10 and further developed a retinitis pigmentosa and ataxia. The whole mtDNA analysis by next-generation sequencing revealed the presence of the 2 bp microdeletion m.9127-9128 del AT in the ATP6 gene at 82% heteroplasmy in muscle and to a lower load in blood (10-20%) and fibroblasts (50%)...
December 9, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29050365/mitochondrial-genome-variation-and-prostate-cancer-a-review-of-the-mutational-landscape-and-application-to-clinical-management
#18
REVIEW
Anton M F Kalsbeek, Eva K F Chan, Niall M Corcoran, Christopher M Hovens, Vanessa M Hayes
Prostate cancer is a genetic disease. While next generation sequencing has allowed for the emergence of molecular taxonomy, classification is restricted to the nuclear genome. Mutations within the maternally inherited mitochondrial genome are known to impact cancer pathogenesis, as a result of disturbances in energy metabolism and apoptosis. With a higher mutation rate, limited repair and increased copy number compared to the nuclear genome, the clinical relevance of mitochondrial DNA (mtDNA) variation requires deeper exploration...
September 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29024924/assessing-heteroplasmic-variant-drift-in-the-mtdna-control-region-of-human-hairs-using-an-mps-approach
#19
Jamie M Gallimore, Jennifer A McElhoe, Mitchell M Holland
Resolution of mitochondrial (mt) DNA heteroplasmy is possible when applying a massively parallel sequencing (MPS) approach. However, interpretation criteria for matching heteroplasmic sequences will need to be established that address a number of important topics, including the drift of variants in sample types such as human hair shafts. Prior to MPS analysis, we compared three different DNA extraction methods for hair using a custom mtDNA quantitative PCR (mtqPCR) assay, and found that a method involving bead capture significantly outperformed methods currently in place in forensic laboratories...
October 2, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29021474/heteroplasmy-of-the-m-3243a-g-mutation-may-influence-phenotypic-heterogeneity
#20
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
October 11, 2017: Internal Medicine
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