Calcium phosphate buffer formed in the mitochondrial matrix during preconditioning supports ΔpH formation and ischemic ATP production and prolongs cell survival –A hypothesis
Publication date: Available online 15 November 2018Source: MitochondrionAuthor(s): Krzysztof DolowyAbstractIschemic preconditioning makes cells less sensitive to oxygen deprivation. A similar effect can be achieved by increasing the calcium concentration and applying potassium channel openers. A hypothetical mechanism of preconditioning is presented. In the mitochondrial matrix, there is a calcium hydroxide buffer consisting of a few insoluble calcium phosphate minerals. During ischemia, calcium ions stored in the matrix buffer start to leak out, forming an electric potential difference, while hydroxyl ions remain in the m...
Source: Mitochondrion - November 16, 2018 Category: Biochemistry Source Type: research

The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort
Publication date: Available online 10 November 2018Source: MitochondrionAuthor(s): Piekutowska-Abramczuk Dorota, Kaliszewska Magdalena, Sułek Anna, Jurkowska Natalia, Ołtarzewski Mariusz, Jabłońska Ewa, Trubicka Joanna, Głowacka Aleksandra, Ciara Elżbieta, Kowalski Paweł, Langiewicz-Wojciechowska Karolina, Tesarova Marketa, Zeman Jiri, Kierdaszuk Biruta, Kuczyński Dariusz, Chmielewski Dariusz, Szymańska Edyta, Bakuła Agnieszka, Lusakowska Anna, Lipowska MartaAbstractDiseases related to DNA polymerase gamma dysfunction comprise of heterogeneous clinical presentations with variable severity and age of onset. Molecu...
Source: Mitochondrion - November 11, 2018 Category: Biochemistry Source Type: research

Assessment of associations between mitochondrial DNA haplogroups and attention deficit and hyperactivity disorder in Korean children
Publication date: Available online 10 November 2018Source: MitochondrionAuthor(s): In Wook Hwang, Bit Na Kwon, Hyung Jun Kim, Seung Hun Han, Noo Ri Lee, Myung Ho Lim, Ho Jang Kwon, Han Jun JinAbstractAttention deficit hyperactivity disorder (ADHD) is a multifactorial disorder with multiple environmental and biological etiologies, including genetic factors. Until now, several genetic variants have been reported to be significantly associated with ADHD. Recently, the relationship between mitochondrial DNA (mtDNA) haplogroups and psychiatric disorders such as schizophrenia has also been reported. However, currently there are ...
Source: Mitochondrion - November 11, 2018 Category: Biochemistry Source Type: research

Mitochondrial dysfunction and gut microbiota imbalance: An intriguing relationship in chronic kidney disease
Publication date: Available online 5 November 2018Source: MitochondrionAuthor(s): Denise Mafra, Natália Alvarenga Borges, Bengt Lindholm, Peter Stenvinkel (Source: Mitochondrion)
Source: Mitochondrion - November 6, 2018 Category: Biochemistry Source Type: research

Mitochondrial dynamics, a key executioner in neurodegenerative diseases
Publication date: Available online 5 November 2018Source: MitochondrionAuthor(s): Komal Panchal, Anand Krishna TiwariAbstractNeurodegenerative diseases (NDs) are the group of disorder that includes brain, peripheral nerves, spinal cord and results in sensory and motor neuron dysfunction. Several studies have shown that mitochondrial dynamics and their axonal transport play a central role in most common NDs such as Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease (HD) and Amyotrophic Lateral Sclerosis (ALS) etc. In normal physiological condition, there is a balance between mitochondrial fission and f...
Source: Mitochondrion - November 6, 2018 Category: Biochemistry Source Type: research

Mito-nuclear interactions modify Drosophila exercise performance
Publication date: Available online 6 November 2018Source: MitochondrionAuthor(s): Alyson Sujkowski, Adam N. Spierer, Thiviya Rajagopalan, Brian Bazzell, Maryam Safdar, Dinko Imsirovic, Robert Arking, David Rand, Robert WessellsAbstractEndurance exercise has received increasing attention as a broadly preventative measure against age-related disease and dysfunction. Improvement of mitochondrial quality by enhancement of mitochondrial turnover is thought to be among the important molecular mechanisms underpinning the benefits of exercise. Interactions between the mitochondrial and nuclear genomes are important components of t...
Source: Mitochondrion - November 6, 2018 Category: Biochemistry Source Type: research

Evidence that thiol group modification and reactive oxygen species are involved in hydrogen sulfide-induced mitochondrial permeability transition pore opening in rat cerebellum
We report here the effects of hydrogen sulfide (sulfide), that accumulates in ETHE1 deficiency, in rat cerebellum. Sulfide impaired electron transfer and oxidative phosphorylation. Sulfide also induced mitochondrial swelling, and decreased ΔΨm and calcium retention capacity in cerebellum mitochondria, which were prevented by cyclosporine A (CsA) plus ADP, and ruthenium red, suggesting mitochondrial permeability transition (mPT) induction. Melatonin (MEL) and N-ethylmaleimide also prevented sulfide-induced alterations. Prevention of sulfide-induced decrease of ΔΨm and viability by CsA and MEL was further...
Source: Mitochondrion - November 4, 2018 Category: Biochemistry Source Type: research

Peroxynitrite nitrates adenine nucleotide translocase and Voltage-Dependent Anion Channel 1 and alters their interactions and association with hexokinase II in mitochondria
In this study, we explored whether IR injury in isolated hearts induces tyrosine nitration of adenine nucleotide translocase (ANT) and alters its interaction with the voltage-dependent anion channel 1 (VDAC1). We found that IR injury induced tyrosine nitration of ANT and that exposure of isolated cardiac mitochondria to ONOO− induced ANT tyrosine, Y81, nitration. The exposure of isolated cardiac mitochondria to ONOO− also led ANT to form high molecular weight proteins and dissociation of ANT from VDAC1. We also found that IR injury in isolated hearts, hypoxic injury in H9c2 cells, and ONOO− treatment of H...
Source: Mitochondrion - November 2, 2018 Category: Biochemistry Source Type: research

Cardiac mitochondrial structure and function in tafazzin-knockdown mice
Publication date: Available online 30 October 2018Source: MitochondrionAuthor(s): Junhwan Kim, Kwangwon Lee, Hisashi Fujioka, Bernard Tandler, Charles L. HoppelAbstractMutations in the tafazzin gene are the basis of Barth syndrome. The tafazzin protein is responsible for the synthesis of cardiolipin. Doxycycline-induced tafazzin-knockdown mice have been used as a model for Barth syndrome. In the current study, we examined subsarcolemmal and interfibrillar mitochondria from hearts of tafazzin-knockdown mice, focusing on mitochondrial ultrastructure, oxidative phosphorylation, electron transport chain complex activity, and p...
Source: Mitochondrion - October 30, 2018 Category: Biochemistry Source Type: research

Detection of mitochondrial transfer RNA (mt-tRNA) gene mutations in patients with idiopathic pulmonary fibrosis and sarcoidosis
Publication date: Available online 26 October 2018Source: MitochondrionAuthor(s): Zoe Daniil, Ourania S. Kotsiou, Alexandros Grammatikopoulos, Sotiria Peletidou, Helen Gkika, Foteini Malli, Katerina Antoniou, Eirini Vasarmidi, Zissis Mamuris, Konstantinos Gourgoulianis, Emily ZifaAbstractMitochondrial reactive oxygen species production may lead to tissue injury associated with two respiratory disorders of unknown origin which are shared by common tissue fibrosis, IPF and sarcoidosis. Sequence analysis of 22 mt-tRNA genes and parts of their flanking genes revealed 32 and 45 mutations in 38/40 IPF and 69/85 sarcoidosis patie...
Source: Mitochondrion - October 27, 2018 Category: Biochemistry Source Type: research

A deafness-associated mitochondrial DNA mutation altered the tRNASer(UCN) metabolism and mitochondrial function
In this study, we investigated the pathogenic mechanism of deafness-associated 7505A > G variant in the mitochondrial tRNASer(UCN). The m.7505A > G variant affected the highly conserved adenine at position 11 (A11), disrupted the highly conserved A11-U24 base-pairing of DHU stem of tRNASer(UCN) and introduced a tertiary base pairing (G11-C56) with the C56 in the TΨC loop. We therefore hypothesized that the m.7505A > G variant altered both structure and function of tRNASer(UCN). We demonstrated that the m.7505A > G variant perturbed the conformation and stability of tRNASer(UCN), as indicated...
Source: Mitochondrion - October 16, 2018 Category: Biochemistry Source Type: research

Profiling of genomic alterations of mitochondrial DNA in gingivobuccal oral squamous cell carcinoma: Implications for disease progress
Publication date: Available online 24 September 2018Source: MitochondrionAuthor(s): Arindam Palodhi, Sahana Ghosh, Nidhan K. Biswas, Analabha Basu, Partha Pratim Majumder, Arindam Maitra, Arindam Maitra, Nidhan K. Biswas, Kishore Amin, Pradnya Kowtal, Shantanu Kumar, Subrata Das, Rajiv Sarin, Partha P. Majumder, I. Bagchi, B.B. Bairagya, A. Basu, M.K. Bhan, P. Chaturvedi, D. DasAbstractWe have identified 164 somatic mutations in mitochondrial DNA in gingivobuccal oral cancer by deep sequencing the mitochondrial genome from paired tumor and blood DNA samples from 89 patients. We have found evidence of positive selection of ...
Source: Mitochondrion - October 5, 2018 Category: Biochemistry Source Type: research

Development of a triplex Mtdna Qpcr assay to assess quantification, degradation, inhibition, and amplification target copy numbers
Publication date: Available online 25 September 2018Source: MitochondrionAuthor(s): Mark F. KavlickAbstractA hybrid absolute/relative qPCR assay which provides information regarding the condition of mitochondrial DNA (mtDNA) in a DNA sample is described. MtDNA concentration (copy number/μL) is determined via absolute quantification using a standard curve of a synthetic duplex DNA previously described (Kavlick, 2011). The state of mtDNA degradation is determined via the relative quantification of a mtDNA target found within the 16 s rRNA gene which is 3× longer than that of the short target in the former duplex a...
Source: Mitochondrion - October 5, 2018 Category: Biochemistry Source Type: research

Microglia polarization by mitochondrial metabolism modulation: A therapeutic opportunity in neurodegenerative diseases
Publication date: Available online 19 September 2018Source: MitochondrionAuthor(s): Arianna Di Stadio, Corrado Angelini (Source: Mitochondrion)
Source: Mitochondrion - September 20, 2018 Category: Biochemistry Source Type: research

Deep sequencing discovery of causal mtDNA mutations in a patient with unspecific neurological disease
In this study we have sequenced the mitochondrial genome of a girl with an unspecific neurological disorder and her mother. The later, while neurologically unaffected, suffers from a myopathy without clear cause. We were able to detect two non-synonymous mutations in the MT-ATP6 gene, which we propose are strong candidates for causative agents. 9017C as the main candidate present at high heteroplasmy frequency in the patient (83,2%) and moderate in the mother (45,4%) while it has a low frequency in the general population. It might act alone or in conjunction with 9010A as an accessory mutation. Evolutionary analysis showed...
Source: Mitochondrion - September 16, 2018 Category: Biochemistry Source Type: research

Frequency and association of mitochondrial genetic variants with neurological disorders
Publication date: Available online 13 September 2018Source: MitochondrionAuthor(s): Ana Carolina P. Cruz, Adriano Ferrasa, Alysson R. Muotri, Roberto H. HeraiAbstractMitochondria are small cytosolic organelles and the main source of energy production for the cells, especially in the brain. This organelle has its own genome, the mitochondrial DNA (mtDNA), and genetic variants in this molecule can alter the normal energy metabolism in the brain, contributing to the development of a wide assortment of Neurological Disorders (ND), including neurodevelopmental syndromes, neurodegenerative diseases and neuropsychiatric disorders...
Source: Mitochondrion - September 13, 2018 Category: Biochemistry Source Type: research

Genetic analysis in a cohort of patients with hereditary optic neuropathies in Southwest of China
In conclusion, we reported the results of the molecular screening of 121 patients with hereditary optic neuropathies from southwest of China. Our results highlight the importance of investigating LHON-causing mtDNA mutations and OPA1 mutations in cases of suspected hereditary optic neuropathy. (Source: Mitochondrion)
Source: Mitochondrion - September 8, 2018 Category: Biochemistry Source Type: research

Whole exome sequencing identifies both nuclear and mitochondrial variations in an Iranian family with non-syndromic hearing loss
Publication date: Available online 8 September 2018Source: MitochondrionAuthor(s): Somayeh Khatami, Hassan Rokni-Zadeh, Neda Mohsen-Pour, Alireza Biglari, Majid Changi-Ashtiani, Mohammad Shahrooei, Tina ShahaniAbstractGenetic contributing factors to non-syndromic hearing loss (NSHL) are remarkably diverse spanning over autosomal to X-linked to mitochondrial inheritance patterns. Facing a quite unconventional pedigree, here we report implementation of whole exome sequencing (WES) to uncover mitochondrial pathogenic variant in a six-generation Iranian family with four cases affected with hereditary NSHL of variable severity....
Source: Mitochondrion - September 8, 2018 Category: Biochemistry Source Type: research

Mitochondrial dysfunction caused by m.2336T>C mutation with hypertrophic cardiomyopathy in cybrid cell lines
Publication date: Available online 6 September 2018Source: MitochondrionAuthor(s): Dan Li, Yaping Sun, Qianqian Zhuang, Yanrui Song, Bifeng Wu, Zexiao Jia, Huaye Pan, Hui Zhou, Shuangyi Hu, Bingtao Zhang, Yue Qiu, Yu Dai, Siyuan Chen, Xuejun Xu, Xufen Zhu, Aifu Lin, Wendong Huang, Zhong Liu, Qingfeng YanAbstractHypertrophic cardiomyopathy (HCM), affecting approximately 1 in 500 in the general population, is the most prominent cause of sudden heart disease-related mortality in the young. Mitochondrial DNA (mtDNA) mutations are among the primary causes of HCM. We previously identified a novel m.2336T>C homoplasmic mutatio...
Source: Mitochondrion - September 7, 2018 Category: Biochemistry Source Type: research

Comment on “establishment of human retinal mitoscriptome gene expression signature for diabetic retinopathy using cadaver eyes”
Publication date: Available online 5 September 2018Source: MitochondrionAuthor(s): Chenyu Li, Hong Luan, Xiaofei Man, Ping Gao, Yan XuAbstractWe read with great interest the article by Gowthaman and colleagues. The study's findings are useful for the discovery of biomarker and developing therapeutic regimen in diabetic retinopathy. On the other hand, from our perspective, the bioinformatics analyses need further context as the statistics for differential fold changes in expression data are not explained fully. Due to the high false positives caused by a large number of probes and multiple comparisons, it seems essential to...
Source: Mitochondrion - September 6, 2018 Category: Biochemistry Source Type: research

Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy
Publication date: Available online 27 August 2018Source: MitochondrionAuthor(s): Michelle Ham, Julia Han, Kathryn Osann, Moyra Smith, Virginia KimonisAbstractAutosomal Dominant Optic Atrophy (ADOA) is a neuro-ophthalmic disease characterized by progressive bilateral vision loss, pallor of the optic disc, central vision loss, and impairment of color vision. Additionally, a small percentage of patients experience hearing loss and ataxia, while recent studies suggest disruption of cardiac and neuromuscular functions. In order to obtain a better understanding of the genotype-phenotype correlation of the various mutations in th...
Source: Mitochondrion - August 28, 2018 Category: Biochemistry Source Type: research

A mitochondrial DNA D loop insertion detected almost exclusively in non-replicating tissues with maternal inheritance across three generations
Publication date: Available online 13 August 2018Source: MitochondrionAuthor(s): Mehul A. Sharma, Ja Young J. Lee, Andrea Tam, Beheroze Sattha, Ian R. Mackenzie, Hilary D. Vallance, Sandra Sirrs, Fady Hannah-Shmouni, Hélène C.F. Côté, .Andre MattmanAbstractMuscle biopsy identified a possibly pathogenic, mitochondrial DNA D-loop insertion, in each of 5 family members from two generations, that was otherwise undetectable in most other tissues. The tissue specific regulation of heteroplasmy is reflected in an age related increase in muscle heteroplasmy level, across the pedigree. This latter finding...
Source: Mitochondrion - August 13, 2018 Category: Biochemistry Source Type: research

Metabolic features and regulation of the healing cycle—A new model for chronic disease pathogenesis and treatment
This study defines the healing cycle in metabolic terms and reframes the pathophysiology of chronic illness as the result of metabolic signaling abnormalities that block healing and cause the normal stages of the cell danger response (CDR) to persist abnormally. Once an injury occurs, active progress through the stages of healing is driven by sequential changes in cellular bioenergetics and the disposition of oxygen and carbon skeletons used for fuel, signaling, defense, repair, and recovery.>100 chronic illnesses can be organized into three persistent stages of the CDR. One hundred and two targetable chemosensory G-pro...
Source: Mitochondrion - August 10, 2018 Category: Biochemistry Source Type: research

Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution
Publication date: Available online 9 August 2018Source: MitochondrionAuthor(s): Mauro Santibanez Koref, Helen Griffin, Douglass M. Turnbull, Patrick F. Chinnery, Mary Herbert, Gavin HudsonAbstractThe mitochondrial genome has recently become the focus of several high-impact next-generation sequencing studies investigating the effect of mutations in disease and assessing the efficacy of mitochondrial replacement therapies.However, these studies have failed to take into consideration the capture of recurring translocations of mitochondrial DNA to the nuclear genome, known as nuclear mitochondrial sequences (NUMTs), continuing...
Source: Mitochondrion - August 9, 2018 Category: Biochemistry Source Type: research

Cell-free mitochondrial DNA in progressive multiple sclerosis
Publication date: Available online 8 August 2018Source: MitochondrionAuthor(s): Hannah Lowes, Angela Pyle, Martin Duddy, Gavin HudsonAbstractRecent studies have linked cell-free mitochondrial DNA (ccf-mtDNA) to neurodegeneration in both Alzheimer's and Parkinson's disease, raising the possibility that the same phenomenon could be seen in other diseases which manifest a neurodegenerative component. Here, we assessed the role of circulating cell-free mitochondrial DNA (ccf-mtDNA) in end-stage progressive multiple sclerosis (PMS), where neurodegeneration is evident, contrasting both ventricular cerebral spinal fluid ccf-mtDNA...
Source: Mitochondrion - August 9, 2018 Category: Biochemistry Source Type: research

Combination of microdissection and single cell quantitative real-time PCR revealed intercellular mitochondrial DNA heterogeneities in fibroblasts of Kearns-Sayre syndrome patients
Publication date: Available online 6 August 2018Source: MitochondrionAuthor(s): Susann Kummer, Ekkehard WilichowskiAbstractKearns-Sayre syndrome (KSS) is a multisystemic disorder marked by aerobic cell metabolism dysfunction. Fibroblasts derived from KSS patient skin biopsy exhibit heterogeneous occurrence of mitochondrial genomes as those circular DNA molecules partially carry the common deletion. In our approach, we aim to evaluate the intercellular alterations in respect to mitochondrial DNA integrity by laser capture microdissection and multiplex quantitative real-time PCR in single cells. The obtained results give new...
Source: Mitochondrion - August 7, 2018 Category: Biochemistry Source Type: research

Toxic medications in Leber's hereditary optic neuropathy
This article reviews the evidence for medications with demonstrated and theoretical effects on mitochondrial function, specifically in relation to increased ROS production. The data reviewed provides guidance when selecting medications for individuals with LHON mutations (carriers) and are susceptible to conversion to affected. However, as with all medications, the proven benefits of these therapies must be weighed against, in some cases, purely theoretical risks for this unique patient population. (Source: Mitochondrion)
Source: Mitochondrion - August 4, 2018 Category: Biochemistry Source Type: research

Mitochondrial genomics in the cancer cell line encyclopedia and a scoring method to effectively pair cell lines for cytoplasmic hybridization
Publication date: Available online 31 July 2018Source: MitochondrionAuthor(s): S. Grandhi, L. Gould, J. Wang, A. Grandhi, T. LaFramboiseAbstractMitochondrial sequence variants have been associated with many human diseases, including cancer. A well-established experimental strategy to assess the impact of mitochondrial sequence variants is to generate cytoplasmic hybrids (cybrids). Cybridization facilitates the study of mitochondrial DNA (mtDNA) mutations under a controlled nuclear genetic background. However, in generating cybrids, it is important to select most suitable mtDNA donor and recipient cells so that any change i...
Source: Mitochondrion - August 2, 2018 Category: Biochemistry Source Type: research

Nuclear-Mitochondrial interactions influence susceptibility to HIV-associated neurocognitive impairment
Publication date: Available online 17 July 2018Source: MitochondrionAuthor(s): S. Smieszek, P. Jia, D.C. Samuels, Z. Zhao, J. Barnholtz-Sloan, H. Kaur, S. Letendre, R. Ellis, D.R. Franklin, T. Hulgan, A. Kallianpur, W.S. Bush, the CHARTER Study GroupAbstractHIV-associated neurocognitive impairment (NCI) is a term established to capture a wide spectrum of HIV related neurocognitive deficits ranging in severity from asymptomatic to dementia. The genetic underpinnings of this complex phenotype are incompletely understood. Mitochondrial function has long been thought to play a role in neurodegeneration, along with iron metabol...
Source: Mitochondrion - July 19, 2018 Category: Biochemistry Source Type: research

Chebulinic acid and Boeravinone B act as anti-aging and anti-apoptosis phyto-molecules during oxidative stress
ConclusionsCA and BB supplementation could significantly decrease oxidative stress, enhance cell viability and ultimately protected S. cerevisiae cells form aging. (Source: Mitochondrion)
Source: Mitochondrion - July 18, 2018 Category: Biochemistry Source Type: research

Genetic interactions influence susceptibility to HIV-associated neurocognitive impairment
Publication date: Available online 17 July 2018Source: MitochondrionAuthor(s): S. Smieszek, P. Jia, D.C. Samuels, Z. Zhao, J. Barnholtz-Sloan, H. Kaur, S. Letendre, R. Ellis, D.R. Franklin, T. Hulgan, A. Kallianpur, W.S. Bush, the CHARTER Study GroupAbstractHIV-associated neurocognitive impairment (NCI) is a term established to capture a wide spectrum of HIV related neurocognitive deficits ranging in severity from asymptomatic to dementia. The genetic underpinnings of this complex phenotype are incompletely understood. Mitochondrial function has long been thought to play a role in neurodegeneration, along with iron metabol...
Source: Mitochondrion - July 18, 2018 Category: Biochemistry Source Type: research

Muscle contractility of leg muscles in patients with mitochondrial myopathies
Publication date: Available online 11 July 2018Source: MitochondrionAuthor(s): Nanna Scharff Poulsen, Julia Rebecka Dahlqvist, Gitte Hedermann, Nicoline Løkken, John VissingAbstractBackgroundThe primary disease mechanism underlying mitochondrial myopathies (MM) is impaired energy generation to support muscle endurance. Little is known about muscle contractility before energy becomes deficient during muscle contractions. We investigated muscle contractility in MM to uncover potentially fixed weakness aspects of the disorders.MethodsContractility of calf and thigh muscles was investigated by comparing strength with co...
Source: Mitochondrion - July 12, 2018 Category: Biochemistry Source Type: research

Multichromosomal structure of the onion mitochondrial genome and a transcript analysis
Publication date: Available online 10 July 2018Source: MitochondrionAuthor(s): Mai Tsujimura, Takakazu Kaneko, Tomoaki Sakamoto, Seisuke Kimura, Masayoshi Shigyo, Hiroshi Yamagishi, Toru TerachiAbstractThe structures of plant mitochondrial genomes are more complex than those of animals. One of the reasons for this is that plant mitochondrial genomes typically have many long and short repeated sequences and intra- and intermolecular recombination may create various DNA molecules in this organelle. Recombination may sometimes create a novel gene that causes cytoplasmic male sterility (CMS).The onion has several cytoplasm typ...
Source: Mitochondrion - July 11, 2018 Category: Biochemistry Source Type: research

Proteome-wide prediction and annotation of mitochondrial and sub-mitochondrial proteins by incorporating domain information
Publication date: Available online 12 October 2017Source: MitochondrionAuthor(s): Ravindra Kumar, Bandana Kumari, Manish KumarAbstractMitochondrion is one of the most important subcellular organelle of eukaryotic cells. It carries out several biochemical functions that are extremely vital for cells. Defects in mitochondria also play an important role in the development and progression of different types of cancer. Therefore knowledge of complete mitochondrial protein repertoire is essential to understand overall mitochondrial functionality, maintenance, dynamics and metabolism. It would be of a great practical significance...
Source: Mitochondrion - July 11, 2018 Category: Biochemistry Source Type: research

Saccharomyces cerevisiae Mhr1 can bind Xho I-induced mitochondrial DNA double-strand breaks in vivo
Publication date: Available online 12 October 2017Source: MitochondrionAuthor(s): Kanchanjunga Prasai, Lucy C. Robinson, Kelly Tatchell, Lynn HarrisonAbstractMitochondrial DNA (mtDNA) double-strand break (DSB) repair is essential for maintaining mtDNA integrity, but little is known about the proteins involved in mtDNA DSB repair. Here, we utilize Saccharomyces cerevisiae as a eukaryotic model to identify proteins involved in mtDNA DSB repair. We show that Mhr1, a protein known to possess homologous DNA pairing activity in vitro, binds to mtDNA DSBs in vivo, indicating its involvement in mtDNA DSB repair. Our data also indi...
Source: Mitochondrion - July 11, 2018 Category: Biochemistry Source Type: research

Mitochondrial disorders of the retinal ganglion cells and the optic nerve
ConclusionsMON needs to be appreciated, requires extensive diagnostic work-up, and supportive treatment should be applied although loss of vision, as the most severe outcome, can often not be prevented. (Source: Mitochondrion)
Source: Mitochondrion - July 11, 2018 Category: Biochemistry Source Type: research

Chemotherapeutic agents induce mitochondrial superoxide production and toxicity but do not alter respiration in skeletal muscle in vitro
Publication date: Available online 25 October 2017Source: MitochondrionAuthor(s): Emma Rybalka, Cara A. Timpani, Beatrice D. Cheregi, James C. Sorensen, Kulmira Nurgali, Alan HayesAbstractChemotherapeutic agents (CAs) can independently promote skeletal muscle dysfunction, fatigue and wasting with mitochondrial toxicity implicated as a possible mechanism. Thus, we aimed to characterise the effects of various CAs on mitochondrial function, viability and oxidant production in C2C12 myoblasts and myotubes. All CAs significantly reduced the viable mitochondrial pool but did not affect mitochondrial functional parameters. Doxoru...
Source: Mitochondrion - July 11, 2018 Category: Biochemistry Source Type: research

MitoepigenomeKB a comprehensive resource for human mitochondrial epigenetic data
Publication date: Available online 9 November 2017Source: MitochondrionAuthor(s): Sourav Ghosh, Anop Singh Ranawat, Priya Tolani, Vinod ScariaAbstractEpigenetic modifications in the mitochondrial genome has been an emerging area of interest in the recent years in the field of mitochondrial biology. The renewed interest in the area has been largely fueled by a number of reports in the recent years suggesting the presence of epigenetic modifications in human mitochondrial genome and their associations with exposure to environmental factors and human diseases and or traits. Nevertheless there has been no systematic effort to ...
Source: Mitochondrion - July 11, 2018 Category: Biochemistry Source Type: research

Development of a novel observer reported outcome tool as the primary efficacy outcome measure for a rare disease randomized controlled trial
Publication date: Available online 10 November 2017Source: MitochondrionAuthor(s): Peter W. Stacpoole, Jonathan Shuster, John L.P. (Seamus) Thompson, Robert A. Prather, Lee Ann Lawson, Baiming Zou, Richard Buchsbaum, Sara Jo NixonAbstractWe developed an Observer-Reported Outcome (ObsRO) survey instrument to be applied in a multicenter, placebo-controlled, crossover randomized controlled trial of dichloroacetate in children with pyruvate dehydrogenase complex deficiency. The instrument quantifies a subject's at-home level of functionality, as reported by a parent/caregiver, who were instrumental in providing the clinical de...
Source: Mitochondrion - July 11, 2018 Category: Biochemistry Source Type: research

The mitochondrial uncoupling protein 2 gene is causal for the spontaneous polycystic liver diseases in mice
Publication date: Available online 14 November 2017Source: MitochondrionAuthor(s): Misa Hirose, Paul Schilf, Sarah Rohde, Yask Gupta, Tiphaine Sancerni, Marie-Clotilde Alves-Guerra, Christian Sina, Robert Jaster, Bruno Miroux, Saleh M. IbrahimAbstractPolycystic liver diseases (PCLDs) are autosomal dominant disorders. To date, 3 genes are known to be associated with the disease, SEC63 and PRKCSH and LRP5. Here, we report that mice deficient in the mitochondrial uncoupling protein 2 gene (Ucp2−/−) spontaneously developed PCLDs when they were over 12 months old. Macroscopical observation, blood chemistry as w...
Source: Mitochondrion - July 11, 2018 Category: Biochemistry Source Type: research

Codon usage and expression level of human mitochondrial 13 protein coding genes across six continents
Publication date: Available online 2 December 2017Source: MitochondrionAuthor(s): Supriyo Chakraborty, Arif Uddin, Tarikul Huda Mazumder, Monisha Nath Choudhury, Arup Kumar Malakar, Prosenjit Paul, Binata Halder, Himangshu Deka, Gulshana Akthar Mazumder, Riazul Ahmed Barbhuiya, Masuk Ahmed Barbhuiya, Warepam Jesmi DeviAbstractThe study of codon usage coupled with phylogenetic analysis is an important tool to understand the genetic and evolutionary relationship of a gene. The 13 protein coding genes of human mitochondria are involved in electron transport chain for the generation of energy currency (ATP). However, no work h...
Source: Mitochondrion - July 11, 2018 Category: Biochemistry Source Type: research

Leber's hereditary optic neuropathy caused by a mutation in mitochondrial tRNAThr in eight Chinese pedigrees
ConclusionsOur data demonstrated the first mitochondrial tRNA mutation leading to LHON. Our findings may provide new insights into the understanding of pathophysiology of LHON. (Source: Mitochondrion)
Source: Mitochondrion - July 11, 2018 Category: Biochemistry Source Type: research

Succinate dehydrogenase: Prospect for neurodegenerative diseases
Publication date: Available online 8 December 2017Source: MitochondrionAuthor(s): Mohammad Jodeiri Farshbaf, Abbas Kiani-EsfahaniAbstractOnset of Alzheimer's, Parkinson's and Huntington's diseases as neurodegenerative disorders is increased by age. Alleviation of clinical symptoms and protection of neurons against degeneration are the main aspects of researches to establish new therapeutic strategies. Many studies have shown that mitochondria play crucial roles in high energy demand tissues like brain. Impairments in mitochondrial activity and physiology can makes neurons vulnerable to stress and degeneration. Succinate de...
Source: Mitochondrion - July 11, 2018 Category: Biochemistry Source Type: research

Clinical and demographic features of chronic progressive external ophthalmoplegia in a large adult-onset cohort
Publication date: Available online 12 December 2017Source: MitochondrionAuthor(s): Julia N. Heighton, Lauren I. Brady, Matthew C. Newman, Mark A. TarnopolskyAbstractChronic progressive external ophthalmoplegia (CPEO) is a common mitochondrial disease. We evaluated the impact of sex and smoking status upon knee extension strength and the phenotypic spectrum of disease in a large cohort of adult-onset CPEO patients (N = 116) using retrospective chart analysis. The CPEO patients showed significantly lower knee extension strength as compared to the age- and sex-matched control population (− 37%, P 
Source: Mitochondrion - July 11, 2018 Category: Biochemistry Source Type: research

Metabolic defects in multiple sclerosis
Publication date: Available online 13 December 2017Source: MitochondrionAuthor(s): Reginald C. Adiele, Chiedukam A. AdieleAbstractBrain injuries in multiple sclerosis (MS) involve immunopathological, structural and metabolic defects on myelin sheath, oligodendrocytes (OLs), axons and neurons suggesting that different cellular mechanisms ultimately result in the formation of MS plaques, demyelination, inflammation and brain damage. Bioenergetics, oxygen and ion metabolism dominate the metabolic and biochemical pathways that maintain neuronal viability and impulse transmission which directly or indirectly point to mitochondr...
Source: Mitochondrion - July 11, 2018 Category: Biochemistry Source Type: research

Antipurinergic therapy for autism—An in-depth review
Publication date: Available online 16 December 2017Source: MitochondrionAuthor(s): Robert K. NaviauxAbstractAre the symptoms of autism caused by a treatable metabolic syndrome that traces to the abnormal persistence of a normal, alternative functional state of mitochondria? A small clinical trial published in 2017 suggests this is possible. Based on a new unifying theory of pathogenesis for autism called the cell danger response (CDR) hypothesis, this study of 10 boys, ages 5–14 years, showed that all 5 boys who received antipurinergic therapy (APT) with a single intravenous dose of suramin experienced improveme...
Source: Mitochondrion - July 11, 2018 Category: Biochemistry Source Type: research

Involvement of mitochondrial haplogroups in myocardial infarction and stroke: A case-control study in Castile and Leon (Spain) population
Publication date: Available online 16 December 2017Source: MitochondrionAuthor(s): Miriam Umbria, Amanda Ramos, Jennifer Caner, Tomás Vega, José Eugenio Lozano, Cristina Santos, Maria Pilar AlujaAbstractThere are strong evidences that common mitochondrial DNA (mtDNA) haplogroups may influence the pathogenesis of cardiovascular diseases (CVDs). In this matched case-control study, we investigate the association between mtDNA haplogroups and two CVDs, myocardial infarction (MI) and stroke, and classical cardiovascular risk factors.Data obtained show that haplogroup H constitute a susceptibility risk factor for M...
Source: Mitochondrion - July 11, 2018 Category: Biochemistry Source Type: research

Conditional MitoTimer reporter mice for assessment of mitochondrial structure, oxidative stress, and mitophagy
Publication date: Available online 20 December 2017Source: MitochondrionAuthor(s): Rebecca J. Wilson, Joshua C. Drake, Di Cui, Mei Zhang, Heather M. Perry, Jennifer A. Kashatus, Christine M. Kusminski, Philipp E. Scherer, David F. Kashatus, Mark D. Okusa, Zhen YanAbstractAssessment of structural and functional changes of mitochondria is vital for biomedical research as mitochondria are the power plants essential for biological processes and tissue/organ functions. Others and we have developed a novel reporter gene, pMitoTimer, which codes for a redox sensitive mitochondrial targeted protein that switches from green fluores...
Source: Mitochondrion - July 11, 2018 Category: Biochemistry Source Type: research

Mitochondrial networking in human blood cells with application in acute care illnesses
Publication date: Available online 21 December 2017Source: MitochondrionAuthor(s): David H. Jang, John C. Greenwood, Shawn Owiredu, Abhay Ranganathan, David M. EckmannAbstractMitochondria are dynamic organelles that adapt in response to environmental stresses or mutations. Dynamic processes involving mitochondria include their locomotion within cells and fusion and fission events in which mitochondrial join together or split apart. Various imaging strategies have been utilized to track mitochondrial dynamics. One common limitation of most of the methods available is that the time required to perform the technique and analy...
Source: Mitochondrion - July 11, 2018 Category: Biochemistry Source Type: research

Impact of mitochondrial DNA copy number and displacement loop alterations on polycystic ovary syndrome risk in south Indian women
In conclusion, mtDNA D-loop and copy number alterations may constitute an inheritable risk factor for PCOS in south Indian women. (Source: Mitochondrion)
Source: Mitochondrion - July 11, 2018 Category: Biochemistry Source Type: research