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Essays in Biochemistry

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https://www.readbyqxmd.com/read/29980632/emerging-therapies-for-mitochondrial-diseases
#1
REVIEW
Michio Hirano, Valentina Emmanuele, Catarina M Quinzii
For the vast majority of patients with mitochondrial diseases, only supportive and symptomatic therapies are available. However, in the last decade, due to extraordinary advances in defining the causes and pathomechanisms of these diverse disorders, new therapies are being developed in the laboratory and are entering human clinical trials. In this review, we highlight the current use of dietary supplement and exercise therapies as well as emerging therapies that may be broadly applicable across multiple mitochondrial diseases or tailored for specific disorders...
July 6, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/29980631/biomarkers-for-mitochondrial-energy-metabolism-diseases
#2
REVIEW
Sara Boenzi, Daria Diodato
Biomarkers are an indicator of biologic or pathogenic processes, whose function is indicating the presence/absence of disease or monitoring disease course and its response to treatment. Since mitochondrial disorders (MDs) can represent a diagnostic challenge for clinicians, due to their clinical and genetic heterogeneity, the identification of easily measurable biomarkers becomes a high priority. Given the complexity of MD, in particular the primary mitochondrial respiratory chain (MRC) diseases due to oxidative phosphorylation (OXPHOS) dysfunction, a reliable single biomarker, relevant for the whole disease group, could be extremely difficult to find, most of times leading the physicians to better consider a 'biosignature' for the diagnosis, rather than a single biochemical marker...
July 6, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/29980630/coenzyme-q-10-deficiencies-pathways-in-yeast-and-humans
#3
REVIEW
Agape M Awad, Michelle C Bradley, Lucía Fernández-Del-Río, Anish Nag, Hui S Tsui, Catherine F Clarke
Coenzyme Q (ubiquinone or CoQ) is an essential lipid that plays a role in mitochondrial respiratory electron transport and serves as an important antioxidant. In human and yeast cells, CoQ synthesis derives from aromatic ring precursors and the isoprene biosynthetic pathway. Saccharomyces cerevisiae coq mutants provide a powerful model for our understanding of CoQ biosynthesis. This review focusses on the biosynthesis of CoQ in yeast and the relevance of this model to CoQ biosynthesis in human cells. The COQ1-COQ11 yeast genes are required for efficient biosynthesis of yeast CoQ...
July 6, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/29980629/natural-history-of-mitochondrial-disorders-a-systematic-review
#4
REVIEW
Nandaki Keshavan, Shamima Rahman
The natural history of a disease defines the age of onset, presenting features, clinical phenotype, morbidity and mortality outcomes of disease that is unmodified by treatments. A clear understanding of the natural history of mitochondrial disorders is essential for establishing genotype-phenotype-prognosis correlations. We performed a systematic review of the reported natural history of mitochondrial disease by searching the literature for all published natural history studies containing at least 20 individuals...
July 6, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/29980628/mitochondrial-dna-transcription-and-translation-clinical-syndromes
#5
REVIEW
Veronika Boczonadi, Giulia Ricci, Rita Horvath
Diagnosing primary mitochondrial diseases is challenging in clinical practice. Although, defective oxidative phosphorylation (OXPHOS) is the common final pathway, it is unknown why different mtDNA or nuclear mutations result in largely heterogeneous and often tissue -specific clinical presentations. Mitochondrial tRNA (mt-tRNA) mutations are frequent causes of mitochondrial diseases both in children and adults. However numerous nuclear mutations involved in mitochondrial protein synthesis affecting ubiquitously expressed genes have been reported in association with very tissue specific clinical manifestations suggesting that there are so far unknown factors determining the tissue specificity in mitochondrial translation...
July 6, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/29950321/mitochondrial-dna-replication-clinical-syndromes
#6
REVIEW
Mohammed Almannai, Ayman W El-Hattab, Fernando Scaglia
Each nucleated cell contains several hundreds of mitochondria, which are unique organelles in being under dual genome control. The mitochondria contain their own DNA, the mtDNA, but most of mitochondrial proteins are encoded by nuclear genes, including all the proteins required for replication, transcription, and repair of mtDNA. MtDNA replication is a continuous process that requires coordinated action of several enzymes that are part of the mtDNA replisome. It also requires constant supply of deoxyribonucleotide triphosphates(dNTPs) and interaction with other mitochondria for mixing and unifying the mitochondrial compartment...
June 27, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/29950320/advances-in-methods-for-reducing-mitochondrial-dna-disease-by-replacing-or-manipulating-the-mitochondrial-genome
#7
REVIEW
Pavandeep K Rai, Lyndsey Craven, Kurt Hoogewijs, Oliver M Russell, Robert N Lightowlers
Mitochondrial DNA (mtDNA) is a multi-copy genome whose cell copy number varies depending on tissue type. Mutations in mtDNA can cause a wide spectrum of diseases. Mutated mtDNA is often found as a subset of the total mtDNA population in a cell or tissue, a situation known as heteroplasmy. As mitochondrial dysfunction only presents after a certain level of heteroplasmy has been acquired, ways to artificially reduce or replace the mutated species have been attempted. This review addresses recent approaches and advances in this field, focusing on the prevention of pathogenic mtDNA transfer via mitochondrial donation techniques such as maternal spindle transfer and pronuclear transfer in which mutated mtDNA in the oocyte or fertilized embryo is substituted with normal copies of the mitochondrial genome...
June 27, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/29950319/advancing-genomic-approaches-to-the-molecular-diagnosis-of-mitochondrial-disease
#8
REVIEW
Sarah Louise Stenton, Holger Prokisch
Mitochondrial diseases present a diagnostic challenge due to their clinical and genetic heterogeneity. Achieving comprehensive molecular diagnosis via a conventional candidate-gene approach is likely, therefore, to be labour- and cost-intensive given the expanding number of mitochondrial disease genes. The advent of whole exome sequencing (WES) and whole genome sequencing (WGS) hold the potential of higher diagnostic yields due to the universality and unbiased nature of the methods. However, these approaches are subject to the escalating challenge of variant interpretation...
June 27, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/29880722/mitochondrial-dna-replication-in-mammalian-cells-overview-of-the-pathway
#9
REVIEW
Maria Falkenberg
Mammalian mitochondria contain multiple copies of a circular, double-stranded DNA genome and a dedicated DNA replication machinery is required for its maintenance. Many disease-causing mutations affect mitochondrial replication factors and a detailed understanding of the replication process may help to explain the pathogenic mechanisms underlying a number of mitochondrial diseases. We here give a brief overview of DNA replication in mammalian mitochondria, describing our current understanding of this process and some unanswered questions remaining...
June 7, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/29880721/the-mitochondrial-dna-genetic-bottleneck-inheritance-and-beyond
#10
REVIEW
Haixin Zhang, Stephen P Burr, Patrick F Chinnery
mtDNA is a multicopy genome. When mutations exist, they can affect a varying proportion of the mtDNA present within every cell (heteroplasmy). Heteroplasmic mtDNA mutations can be maternally inherited, but the proportion of mutated alleles differs markedly between offspring within one generation. This led to the genetic bottleneck hypothesis, explaining the rapid changes in allele frequency seen during transmission from one generation to the next. Although a physical reduction in mtDNA has been demonstrated in several species, a comprehensive understanding of the molecular mechanisms is yet to be revealed...
June 7, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/29765007/from-intra-to-extracellular-vesicles-extracellular-vesicles-in-developmental-signalling
#11
REVIEW
Ana-Citlali Gradilla, Eléanor Simon, Gustavo Aguilar, Isabel Guerrero
Signalling from cell-to-cell is fundamental for determining differentiation and patterning. This communication can occur between adjacent and distant cells. Extracellular vesicles (EVs) are membrane-based structures thought to facilitate the long-distance movement of signalling molecules. EVs have recently been found to allow the transport of two major developmental signalling pathways: Hedgehog and Wnt. These signalling molecules undergo crucial post-translational lipid modifications, which anchor them to membranes and impede their free release into the extracellular space...
May 15, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/29765006/exosomes-and-extracellular-vesicles-the-path-forward
#12
REVIEW
Philip D Stahl, Graça Raposo
Over the course of the past several decades, the concept that extracellular vesicles, exosomes and microvesicles, operate as cellular "housekeepers" and as agents for communication between and among cells and tissues, has emerged into one of the most promising yet vexing problems facing the biomedical community. Already, extracellular vesicles from biological fluids are being used for diagnostic purposes and hopes abound for their use as therapeutic agents. However, the most basic mechanistic questions surrounding their biogenesis and function in cellular and tissue homeostasis remain largely unexplored...
May 15, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/29717060/cell-cell-communication-via-ciliary-extracellular-vesicles-clues-from-model-systems
#13
REVIEW
Juan Wang, Maureen M Barr
In this short review, we will focus on the uniqueness of ciliary extracellular vesicles (EVs). In particular, we will review what has been learned regarding EVs produced by cilia of model organisms. Model systems including Chlamydomonas, Caenorhabditis elegans , and mouse revealed the fundamental biology of cilia and flagella and provide a paradigm to understand the roles of cilia and flagella in human development, health, and disease. Likewise, we propose that general principles learned from model systems regarding ciliary EV biogenesis and functions may provide a framework to explore the roles of ciliary EVs in human development, health, and disease...
May 15, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/29717059/fed-exosome-extracellular-vesicles-and-cell-cell-communication-in-metabolic-regulation
#14
REVIEW
Isabella Samuelson, Antonio J Vidal-Puig
Extracellular vesicles (EVs) have emerged as a novel messaging system of the organism, mediating cell-cell and interorgan communication. Through their content of proteins and nucleic acids, as well as membrane proteins and lipid species, EVs can interact with and modulate the function of their target cells. The regulation of whole-body metabolism requires cross-talk between key metabolic tissues including adipose tissue (AT), the liver and skeletal muscle. Furthermore, the regulation of nutrient/energy allocation during pregnancy requires co-ordinated communication between the foetus and metabolic organs of the mother...
May 15, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/29717058/exosomes-and-cardiovascular-cell-cell-communication
#15
REVIEW
Adam J Poe, Anne A Knowlton
Exosomes have become an important player in intercellular signaling. These lipid microvesicles can stably transfer miRNA, protein, and other molecules between cells and circulate throughout the body. Exosomes are released by almost all cell types and are present in most if not all biological fluids. The biologically active cargo carried by exosomes can alter the phenotype of recipient cells. Exosomes increasingly are recognized as having an important role in the progression and treatment of cardiac disease states...
May 15, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/29717057/to-be-or-not-to-be-secreted-as-exosomes-a-balance-finely-tuned-by-the-mechanisms-of-biogenesis
#16
REVIEW
Roberta Palmulli, Guillaume van Niel
The release of extracellular vesicles such as exosomes provides an attractive intercellular communication pathway. Exosomes are 30- to 150-nm membrane vesicles that are generated in endosomal compartment and act as intercellular mediators in both physiological and pathological context. Despite the growing interest in exosome functions, the mechanisms responsible for their biogenesis and secretion are still not completely understood. Knowledge about these mechanisms is important because they control the composition, and hence the function and secretion, of exosomes...
May 15, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/29666212/extracellular-vesicles-important-collaborators-in-cancer-progression
#17
REVIEW
Shinya Sato, Alissa M Weaver
Extracellular vesicles (EVs) are membrane vesicles that are released from cells and mediate cell-cell communication. EVs carry protein, lipid, and nucleic acid cargoes that interact with recipient cells to alter their phenotypes. Evidence is accumulating that tumor-derived EVs can play important roles in all steps of cancer progression. Here, we review recent studies reporting critical roles for EVs in four major areas of cancer progression: promotion of cancer invasiveness and motility, enhancement of angiogenesis and vessel permeability, conditioning premetastatic niches, and immune suppression...
May 15, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/29666211/drivers-of-persistent-infection-pathogen-induced-extracellular-vesicles
#18
REVIEW
Michael J Cipriano, Stephen L Hajduk
Extracellular vesicles (EVs) are produced by invading pathogens and also by host cells in response to infection. The origin, composition, and function of EVs made during infection are diverse and provide effective vehicles for localized and broad dissimilation of effector molecules in the infected host. Extracellular pathogens use EVs to communicate with each other by sensing the host environment contributing to social motility, tissue tropism, and persistence of infection. Pathogen-derived EVs can also interact with host cells to influence the adhesive properties of host membranes and to alter immune recognition and response...
May 15, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/29666210/regulation-and-mechanisms-of-extracellular-vesicle-biogenesis-and-secretion
#19
REVIEW
Crislyn D'Souza-Schorey, Jeffrey S Schorey
EV (extracellular vesicle) biology is a rapidly expanding field. These heterogeneous membrane vesicles, which are shed from virtually all cell types, collectively represent a new dimension of intercellular communication in normal physiology and disease. They have been shown to deliver infectious and pathogenic agents to non-infected cells whereas in cancers they are thought to condition the tumor microenvironment. Their presence in body fluids and inherent capacity for systemic delivery point to their clinical promise...
May 15, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/29653967/increasing-metabolic-potential-c-fixation
#20
REVIEW
P John Andralojc, Elizabete Carmo-Silva, Gustaf E Degen, Martin A J Parry
Due to the growing world population, crop yields must increase to meet the rising demand. Crop plants also require adaptation to optimize performance in the changing environments caused by climate change. Improving photosynthetic carbon fixation is a promising, albeit technically challenging, strategy whose potential has only just begun to be considered in breeding programmes. Ribulose-1,5-bisphosphate carboxylase/oxygenase (Rubisco), a fundamental enzyme of carbon fixation, is extremely inefficient and many strategies to improve photosynthesis focus on overcoming the limitations of this enzyme, either by improving Rubisco activity and regulation or by improving the supply of substrates...
April 13, 2018: Essays in Biochemistry
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