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Auke B C Otten, Alphons P M Stassen, Michiel Adriaens, Mike Gerards, Richard G J Dohmen, Adriana J Timmer, Sabina J V Vanherle, Rick Kamps, Iris B W Boesten, Jo M Vanoevelen, Marc Muller, Bert Smeets
Of all pathogenic mitochondrial DNA (mtDNA) mutations in humans, ~25% is de novo, although the occurrence in oocytes has never been directly assessed. We used next generation sequencing to detect point mutations directly in the mtDNA of 3-15 individual mature oocytes and three somatic tissues from eight zebrafish females. Various statistical and biological filters allowed reliable detection of de novo variants with heteroplasmy ≥1.5%. In total, we detected 38 de novo base substitutions, but no insertions or deletions...
October 21, 2016: Genetics
B Ślaska, L Grzybowska-Szatkowska, M Bugno-Poniewierska, A Gurgul, A Śmiech, D Różańska, J Dudka
The aim of the study was to identify polymorphisms and mutations in the mitochondrial ND4 gene and to analyse the associations between the occurrence of molecular changes in mtDNA and phenotypic traits in tumours in German Shepherd dogs. Fifty samples obtained from blood and tumour tissues of German Shepherd dogs with diagnosed tumours were analysed. DNA extraction, amplification, and sequencing of the mtDNA ND4 gene, and bioinformatics, statistical, and in silico protein coding SNP analyses were performed...
September 1, 2016: Polish Journal of Veterinary Sciences
Claudia B Catarino, Uwe Ahting, Mirjana Gusic, Arcangela Iuso, Birgit Repp, Katrin Peters, Saskia Biskup, Bettina von Livonius, Holger Prokisch, Thomas Klopstock
Leber's hereditary optic neuropathy (LHON) is an inherited mitochondrial disease that usually leads to acute or subacute bilateral central vision loss. In 95% of cases, LHON is caused by one of three primary mutations of the mitochondrial DNA (mtDNA), m.11778G>A in the MT-ND4 gene, m.14484T>C in the MT-ND6 gene, or m.3460G>A in the MT-ND1 gene. Here we characterize clinically, genetically, and biochemically a LHON family with multiple patients harboring two of these primary LHON mutations, m.11778G>A homoplasmic and m...
October 6, 2016: Mitochondrion
Molly M Rathbun, Jennifer A McElhoe, Walther Parson, Mitchell M Holland
Resolution of mitochondrial (mt) DNA heteroplasmy is now possible when applying a massively parallel sequencing (MPS) approach, including minor components down to 1%. However, reporting thresholds and interpretation criteria will need to be established for calling heteroplasmic variants that address a number of important topics, one of which is DNA damage. We assessed the impact of increasing amounts of DNA damage on the interpretation of minor component sequence variants in the mtDNA control region, including low-level mixed sites...
September 28, 2016: Forensic Science International. Genetics
Xikun Song, Zefeng Xiao, Cinzia Gravili, Bernhard Ruthensteiner, Melanie Mackenzie, Shaoqing Wang, Jinjing Chen, Nan Yu, Jianjun Wang
The morphological character of the hydrocladium and gonotheca origin from within the hydrothecal cavity has rarely been applied for generic diagnoses in hydrozoans. Its taxonomic value has been controversial for more than a century. The genus Fraseroscyphus Boero and Bouillon, 1993 (Hydrozoa: Sertulariidae) is a relatively recently debated case and it has been distinguished from Symplectoscyphus Marktanner-Turneretscher, 1890 based on this character. A review of this character in all published nominal species of the family Sertulariidae reveals that its occurrence is inconsistent at the genus level...
September 14, 2016: Zootaxa
Djurdja Djordjevic, Lauren Brady, Renkui Bai, Mark A Tarnopolsky
We describe here two novel mitochondrial mutations associated with a complex mitochondrial encephalopathy. An A to G transition at position 7495 (MT-TS1 (MT-tRNSer(UCN))) was identified at 83% heteroplasmy in the muscle of a four year old female with ptosis, hypotonia, seizures, and dilated cardiomyopathy (Case 1). A homoplasmic C to T transition at position 5577 (MT-TW (MT-tRNATrp)) was found in a twenty-four year old woman with exercise intolerance, mild muscle weakness, hearing loss, seizures, and cognitive decline (Case 2)...
September 28, 2016: Mitochondrion
Michael Rudnicki, Johannes A Mayr, Johannes Zschocke, Herwig Antretter, Heinz Regele, René G Feichtinger, Martin Windpessl, Gert Mayer, Gerhard Pölzl
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome) represents one of the most frequent mitochondrial disorders. The majority of MELAS cases are caused by m.3243A>G mutation in the mitochondrial MT-TL1 gene, which encodes the mitochondrial tRNA(Leu(UUR)). Kidney involvement usually manifests as Fanconi syndrome or focal segmental glomerulosclerosis. We describe a patient with MELAS mutation, cardiomyopathy, and chronic kidney disease without Fanconi syndrome, proteinuria, or hematuria...
September 24, 2016: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
Liang Xu, Rui Shi
Mitochondrial DNA transfer has recently received attention from physicians. The transfer techniques place genetic material from the egg nucleus of a woman with a mitochondrial DNA mutation into a healthy donated egg from which the nuclear DNA was removed. This technology intends to reconstruct a mitochondria-competent egg to produce a baby. Three approaches: (1) pronuclear transfer; (2) metaphase II spindle transfer (ST); and (3) polar body (PB) transfer, have been proposed and applied in animal models with very low levels of heteroplasmy...
September 16, 2016: Human Fertility: Journal of the British Fertility Society
Bojan Gajić, Jevrosima Stevanović, Željko Radulović, Zoran Kulišić, Branislav Vejnović, Uroš Glavinić, Zoran Stanimirović
In the present study, amplification refractory mutation system (ARMS) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methods were used for identification of recently described Serbia 1 (S1) and Peshter 1 (P1) mitochondrial haplotypes of Varroa destructor. Based on single nucleotide polymorphisms (SNPs) within cytochrome oxidase 1 (cox1) and cytochrome b (cytb) gene sequences, a total of 64 adult V. destructor females were analyzed from locations where the S1 and P1 haplotypes had been detected previously...
November 2016: Experimental & Applied Acarology
Pan Zhang, David C Samuels, Shilin Zhao, Jing Wang, Yu Shyr, Yan Guo
MOTIVATION: High-throughput genomic data often contain unexpected information that can be mined for alternative applications. Despite the rise of high-throughput sequencing, Illumina genotyping arrays remain a driving force in large scale genetic and epidemiology studies. By processing and analyzing genotyping data of over 100,000 samples genotyped on Illumina genotyping arrays, we discovered evidence that indicated that mitochondrial heteroplasmy can be estimated from the florescence intensity data of the array...
September 11, 2016: Mitochondrion
Yi Shiau Ng, Steven A Hardy, Venice Shrier, Gerardine Quaghebeur, David R Mole, Matthew J Daniels, Susan M Downes, Jane Freebody, Carl Fratter, Monika Hofer, Andrea H Nemeth, Joanna Poulton, Robert W Taylor
Mitochondrial DNA disease is one of the most common groups of inherited neuromuscular disorders and frequently associated with marked phenotypic and genotypic heterogeneity. We describe an adult patient who initially presented with childhood-onset ataxia without a family history and an unremarkable diagnostic muscle biopsy. Subsequent multi-system manifestations included basal ganglia calcification, proteinuria, cataract and retinitis pigmentosa, prompting a repeat muscle biopsy that showed features consistent with mitochondrial myopathy 13 years later...
October 2016: Neuromuscular Disorders: NMD
E C Røyrvik, J P Burgstaller, I G Johnston
STUDY QUESTION: Does mitochondrial DNA (mtDNA) diversity in modern human populations potentially pose a challenge, via mtDNA segregation, to mitochondrial replacement therapies? SUMMARY ANSWER: The magnitude of mtDNA diversity in modern human populations is as high as in mammalian model systems where strong mtDNA segregation is observed; consideration of haplotype pairs and/or haplotype matching can help avoid these potentially deleterious effects. WHAT IS KNOWN ALREADY: In mammalian models, substantial proliferative differences are observed between different mtDNA haplotypes in cellular admixtures, with larger proliferative differences arising from more diverse haplotype pairings...
September 8, 2016: Molecular Human Reproduction
Erik Hefti, Jonathan Bard, Javier G Blanco
Individuals with Down syndrome (DS, trisomy 21) exhibit a pro-oxidative cellular environment as well as mitochondrial dysfunction. Increased oxidative stress may damage the mitochondrial DNA (mtDNA). The coexistence of mtDNA variants in a cell or tissue (i.e., heteroplasmy) may contribute to mitochondrial dysfunction. Given the evidence on mitochondrial dysfunction and the relatively high incidence of multiorganic disorders associated with DS, we hypothesized that cardiac tissue from subjects with DS may exhibit higher frequencies of mtDNA variants in comparison to cardiac tissue from donors without DS...
September 4, 2016: Human Mutation
Lucas L Pietan, Theresa A Spradling, James W Demastes
In animals, mitochondrial DNA (mtDNA) typically occurs as a single circular chromosome with 13 protein-coding genes and 22 tRNA genes. The various species of lice examined previously, however, have shown mitochondrial genome rearrangements with a range of chromosome sizes and numbers. Our research demonstrates that the mitochondrial genomes of two species of chewing lice found on pocket gophers, Geomydoecus aurei and Thomomydoecus minor, are fragmented with the 1,536 base-pair (bp) cytochrome-oxidase subunit I (cox1) gene occurring as the only protein-coding gene on a 1,916-1,964 bp minicircular chromosome in the two species, respectively...
2016: PloS One
Silvia Sookoian, Diego Flichman, Romina Scian, Cristian Rohr, Hernán Dopazo, Tomas Fernández Gianotti, Julio San Martino, Gustavo O Castaño, Carlos J Pirola
Non-alcoholic fatty liver disease (NAFLD) is associated with mitochondrial dysfunction, a decreased liver mitochondrial DNA (mtDNA) content, and impaired energy metabolism. To understand the clinical implications of mtDNA diversity in the biology of NAFLD, we applied deep-coverage whole sequencing of the liver mitochondrial genomes. We used a multistage study design, including a discovery phase, a phenotype-oriented study to assess the mutational burden in patients with steatohepatitis at different stages of liver fibrosis, and a replication study to validate findings in loci of interest...
August 31, 2016: Journal of Pathology
M V Golubenko, M S Nazarenko, A V Frolov, A A Sleptsov, A V Markov, M E Glushkova, O L Barbarash, V P Puzyrev
For identification of somatic mitochondrial DNA (mtDNA) mutations, the mtDNA major noncoding region (D-loop) sequence in blood samples and carotid atherosclerosis plaques from patients with atherosclerosis was analyzed. Five point heteroplasmic positions were observed in 4 of 23 individuals (17%). Only in two cases could heteroplasmy have resulted from somatic mutation, whereas three heteroplasmic positions were found in both vascular tissue and blood. In addition, length heteroplasmy in a polycytosine stretches was registered at nucleotide positions 303-315 in 16 individuals, and also in the 16184-16193 region--in four patients...
April 2016: Genetika
Alan Diot, Eszter Dombi, Tiffany Lodge, Chunyan Liao, Karl Morten, Janet Carver, Dagan Wells, Tim Child, Iain G Johnston, Suzannah Williams, Joanna Poulton
One in 400 people has a maternally inherited mutation in mtDNA potentially causing incurable disease. In so-called heteroplasmic disease, mutant and normal mtDNA co-exist in the cells of carrier women. Disease severity depends on the proportion of inherited abnormal mtDNA molecules. Families who have had a child die of severe, maternally inherited mtDNA disease need reliable information on the risk of recurrence in future pregnancies. However, prenatal diagnosis and even estimates of risk are fraught with uncertainty because of the complex and stochastic dynamics of heteroplasmy...
August 15, 2016: Biochemical Society Transactions
J Zhong, F-C Wu, P Qiu, L-J Dai
To study the levels of genetic diversity, and population structure, of Houttuynia cordata Thunb, the genetic background and relationships of populations were analyzed in terms of environmental factors. The genetic diversity and population structure of H. cordata were investigated using sequence-related amplified polymorphisms and correlation with environmental factors was analyzed using the SPSS software. Two thousand one hundred sixty-three sites were amplified from 41 pairs of primers, 1825 of which were polymorphic, and the percentage of polymorphic loci was 84...
2016: Genetics and Molecular Research: GMR
Laura Kytövuori, Joonas Lipponen, Harri Rusanen, Tuomas Komulainen, Mika H Martikainen, Kari Majamaa
Defects in the respiratory chain or mitochondrial ATP synthase (complex V) result in mitochondrial dysfunction that is an important cause of inherited neurological disease. Two of the subunits of complex V are encoded by MT-ATP6 and MT-ATP8 in the mitochondrial genome. Pathogenic mutations in MT-ATP6 are associated with the Leigh syndrome, the syndrome of neuropathy, ataxia, and retinitis pigmentosa (NARP), as well as with non-classical phenotypes, while MT-ATP8 is less frequently mutated in patients with mitochondrial disease...
November 2016: Journal of Neurology
U Toscanini, L Gusmão, M C Álava Narváez, J C Álvarez, L Baldassarri, A Barbaro, G Berardi, E Betancor Hernández, M Camargo, J Carreras-Carbonell, J Castro, S C Costa, P Coufalova, V Domínguez, E Fagundes de Carvalho, S T G Ferreira, S Furfuro, O García, A Goios, R González, A González de la Vega, A Gorostiza, A Hernández, S Jiménez Moreno, M V Lareu, A León Almagro, M Marino, G Martínez, M C Miozzo, N M Modesti, V Onofri, S Pagano, B Pardo Arias, S Pedrosa, G A Penacino, M L Pontes, M J Porto, J Puente-Prieto, R Ramírez Pérez, T Ribeiro, B Rodríguez Cardozo, Y M Rodríguez Lesmes, A Sala, B Santiago, V G Saragoni, A Serrano, E R Streitenberger, M A Torres Morales, S A Vannelli Rey, M Velázquez Miranda, M R Whittle, K Fernández, A Salas
Since 1992, the Spanish and Portuguese-Speaking Working Group of the ISFG (GHEP-ISFG) has been organizing annual Intercomparison Exercises (IEs) coordinated by the Quality Service at the National Institute of Toxicology and Forensic Sciences (INTCF) from Madrid, aiming to provide proficiency tests for forensic DNA laboratories. Each annual exercise comprises a Basic (recently accredited under ISO/IEC 17043: 2010) and an Advanced Level, both including a kinship and a forensic module. Here, we show the results for both autosomal and sex-chromosomal STRs, and for mitochondrial DNA (mtDNA) in two samples included in the forensic modules, namely a mixture 2:1 (v/v) saliva/blood (M4) and a mixture 4:1 (v/v) saliva/semen (M8) out of the five items provided in the 2014 GHEP-ISFG IE...
July 19, 2016: Forensic Science International. Genetics
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