Viktoriya Peeva

Viktoriya Peeva
University of Bonn | Uni Bonn · Institute of Experimental Epileptology and Cognition Research

PhD

About

41
Publications
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Introduction

Publications

Publications (41)
Article
Full-text available
Background and Objectives We report the pathogenic sequence variant m.5789T>C in the anticodon stem of the mitochondrial tRNA for cysteine as a novel cause of neuropathy, ataxia, and retinitis pigmentosa (NARP), which is usually associated with pathogenic variants in the MT-ATP6 gene. Methods To address the correlation of oxidative phosphorylation...
Article
Amyotrophic lateral sclerosis (ALS) is a devastating, rapidly progressive, neurodegenerative disorder affecting upper and lower motor neurons. Approximately 10% of patients suffer from familial ALS (FALS) with mutations in different ubiquitously expressed genes including SOD1, C9ORF72, TARDBP, and FUS. There is compelling evidence for mitochondrial...
Article
Full-text available
Background Mutations in the human desmin gene (DES) cause autosomal-dominant and -recessive cardiomyopathies, leading to heart failure, arrhythmias, and AV blocks. We analyzed the effects of vascular pressure overload in a patient-mimicking p.R349P desmin knock-in mouse model that harbors the orthologue of the frequent human DES missense mutation p...
Conference Paper
Full-text available
Mutations of the human desmin gene on chromosome 2q35 cause autosomal-dominant and -recessive myopathies and ardiomyopathies. For pathophysiological and therapeutic studies, we generated a R349P desmin knock-in mouse strain, which serves as patient�mimicking disease model for desminopathies. Here, we investigated the influence of pressure overload...
Article
Chronic progressive external ophthalmoplegia (CPEO) is a frequent clinical manifestation of disorders caused by pathogenic mitochondrial DNA mutations. However, for diagnostic purposes skeletal muscle tissue is used, since extraocular muscle tissue is usually not available for work-up. In the present study we aimed to identify causative factors tha...
Article
Full-text available
Emerging gene therapy approaches that aim to eliminate pathogenic mutations of mitochondrial DNA (mtDNA) rely on efficient degradation of linearized mtDNA, but the enzymatic machinery performing this task is presently unknown. Here, we show that, in cellular models of restriction endonuclease-induced mtDNA double-strand breaks, linear mtDNA is elim...
Article
Emerging gene therapy approaches that aim to eliminate pathogenic mutations of mitochondrial DNA (mtDNA) rely on efficient degradation of linearized mtDNA, but the enzymatic machinery performing this task is presently unknown. Here, we show that, in cellular models of restriction endonuclease-induced mtDNA double-strand breaks, linear mtDNA is elim...
Article
Full-text available
Recent deep sequencing data has provided compelling evidence that the spectrum of somatic point mutations in mitochondrial DNA (mtDNA) in aging tissues lacks G > T transversion mutations. This fact cannot, however, be used as an argument for the missing contribution of reactive oxygen species (ROS) to mitochondria-related aging because it is probab...
Article
Full-text available
Secondary mitochondrial dysfunction is a feature in a wide variety of human protein aggregate diseases caused by mutations in different proteins, both in the central nervous system and in striated muscle. The functional relationship between the expression of a mutated protein and mitochondrial dysfunction is largely unknown. In particular, the mech...
Article
Full-text available
Accumulation of mitochondrial DNA (mtDNA) deletions has been proposed to be responsible for the presence of respiratory-deficient neurons in several CNS diseases. Deletions are thought to originate from double-strand breaks due to attack of reactive oxygen species (ROS) of putative inflammatory origin. In epileptogenesis, emerging evidence points t...
Article
Aging is a progressive decline of body function, during which many tissues accumulate few cells with high levels of deleted mitochondrial DNA (mtDNA), leading to a defect of mitochondrial functions. Whether this mosaic mitochondrial deficiency contributes to organ dysfunction is unknown. To investigate this, we generated mice with an accelerated ac...
Article
Full-text available
MGME1, also known as Ddk1 or C20orf72, is a mitochondrial exonuclease found to be involved in the processing of mitochondrial DNA (mtDNA) during replication. Here, we present detailed insights on the role of MGME1 in mtDNA maintenance. Upon loss of MGME1, elongated 7S DNA species accumulate owing to incomplete processing of 5' ends. Moreover, an 11...
Article
Full-text available
MGME1, also known as Ddk1 or C20orf72, is a mitochondrial exonuclease found to be involved in the processing of mitochondrial DNA (mtDNA) during replication. Here, we present detailed insights on the role of MGME1 in mtDNA maintenance. Upon loss of MGME1, elongated 7S DNA species accumulate owing to incomplete pro-cessing of 5 ′ ends. Moreover, an...
Article
Mutations in genes involved in mitochondrial DNA (mtDNA) replication result in two molecular phenotypes of mitochondrial disorders, multiple mtDNA deletion and/or depletion syndromes, known collectively as mtDNA maintenance disorders. Disease mechanisms alter either the mtDNA replication machinery or the biosynthesis pathways of deoxyribonucleotide...
Article
Full-text available
Known disease mechanisms in mitochondrial DNA (mtDNA) maintenance disorders alter either the mitochondrial replication machinery (POLG, POLG2 and C10orf2) or the biosynthesis pathways of deoxyribonucleoside 5'-triphosphates for mtDNA synthesis. However, in many of these disorders, the underlying genetic defect has yet to be discovered. Here, we ide...
Article
Full-text available
Charcot-Marie-Tooth neuropathy type 2A (CMT2A) is associated with heterozygous mutations in the mitochondrial protein mitofusin 2 (Mfn2) that is intimately involved with the outer mitochondrial membrane fusion machinery. The precise consequences of these mutations on oxidative phosphorylation are still a matter of dispute. Here, we investigate the...
Article
Full-text available
Global figures clearly demonstrate inadequacy of current diabetes care: every 10 seconds one patient dies of diabetes-related pathologies. Nephropathy is the leading secondary complication of the disease. Nutritional supplement by chromium-picolinate is assumed to have beneficial therapeutic effects. However, potential toxic effects reported increa...
Article
Full-text available
We have analyzed the complete mitochondrial genomes of 22 Pan paniscus (bonobo, pygmy chimpanzee) individuals to assess the detailed mitochondrial DNA (mtDNA) phylogeny of this close relative of Homo sapiens. We identified three major clades among bonobos that separated approximately 540,000 years ago, as suggested by Bayesian analysis. Incidentall...
Data
Full-text available
Figure S2. Detailed phylogenetic tree of complete Pan paniscus mtDNA sequences displaying all detected polymorphic positions. For each branch, strictly branch-specific mutations are listed on the left-hand side of the line, while homoplasic mutations (occurring also in other independent branches) on the right-hand side. Stars indicate the lack of t...
Data
Full-text available
Figure S1. Neighbor-joining tree of Pan paniscus hypervariable region I sequences using Pan troglodytes as outgroup. Previously published sequences are shown by their GenBank accession numbers. Complete Pan paniscus mtDNA sequences described in this study are marked by dots. Scale bar, evolutionary distance (substitutions per nucleotide position).
Data
Full-text available
Table S1. Non-synonymous mutations in mitochondrial genes of complex V. Scoring of amino acid changes according to Betts and Russell [44]. Positive values indicate favored changes, zero neutral changes, negative values disfavored changes in membrane proteins.
Data
Full-text available
Figure S3. Ratios of non-synonymous to synonymous mutations in mitochondrial protein coding genes. dN/dS ratios of within-group polymorphic sites in the mitochondrial encoded subunits of complexes I, III, IV and V in Pan paniscus and diverse human haplogroups. Numbers of analyzed individual sequences are shown in brackets.
Data
Table S2. Human haplogroup definitions used in the study. Haplogroups defined by the presence (+) or the absence (-) of specific mutations as compared to the revised Cambridge Reference Sequence [18].
Article
Full-text available
Secretion of a novel bacteriocin-like substance from Enterococcus durum M-3 is des-cribed for the first time. The bacteriocin was named duracin. The growth characteristics of the producer strain, as well as the type of production and the primary characteristic of the peptide are investigated. It was found that the molecule has a very low molecular...

Projects

Project (1)
Project
To delineate the mechanisms of mitochondrial DNA deletion formation