Fifth disease 2 pages german measles see rubella giardiasis 1 page. Anticoagulantsubstance that delays or prevents coagulation of blood 2. Dynamin architecture from monomer to polymer sciencedirect. Abstract dynamin 2 dnm2 is a large gtpase involved in the release of nascent vesicles during endocytosis and intracellular membrane. Dnm2 has an etiologic role in axonal charcotmarietooth disease type 2 neuropathy. Of mice and men are mice relevant models for human disease. Dynamin 1like protein is a gtpase that regulates mitochondrial fission. Both the human and the mouse genes contain a polymorphic ca repeat in their 3utr. Increased dynamin expression precedes proteinuria in. Identifiers, cmt2m, cmtdi1, cmtdib, dicmtb, dyn2, dynii, lccs5, dynamin 2. The mitofusins are transmembrane dynamin related gtpases, which induce the joining of 2 mitochondrial fragments by forming dimers across the interface. Dynamin2 function and dysfunction along the secretory. Although the role of mir34a3p is not well established in human disease, its complementary strand, mir34a5p, has been implicated in many human cancers 4345 and in pah, where its suppression has been linked to the pdgf receptor. Dynamin2 is a ubiquitously expressed mechanogtpase involved in different.
The expression profiles of dynamin in the central nervous system cns are clearly distinct from the expression profiles in the other organs or tissues studied. Crystal structure of nucleotidefree dynamin nature. Classical dynamin dnm1 and dnm3 genes attain maximum. Late treatment in the diseases time course partially improve the phenotype due to a weaker transduction capacity of the muscle. We will also highlight the implications of therapeutic manipulation of mitochondrial dynamics in treating various human pathologies. It is a dynamin related gtpase that interacts with cardiolipin, a mitochondrial inner membrane lipid, and is mostly found in cristae, consistent with its role. Dynamin like 120 kda protein, mitochondrial is a protein that in humans is encoded by the opa1 gene. Such a mouse can be used to test the possible efficacy of a drug designed to bind to the relevant human protein. Dnm2 mice progressively develop features of the human cnm including. Cos7 cells transfected with dnm2 constructs harboring a diseaseassociated mutation in md, ph, or ged show a reduced uptake of transferrin. Dynamic instability of microtubules requires dynamin 2 and. Essentials of human disease, second edition is a consolidated and modified version of the very successful introduction to human disease, now in its ninth edition. Revised and updated with the latest data in the field, essentials of human disease, second edition is a consolidated and modified version of the very successful an introduction to human disease, now in its ninth edition.
Dnm2 is a large gtpase mainly involved in membrane trafficking through its function in the formation and release of nascent vesicles from biological. Therefore, complex formation between the fbar domain of fbp17 and pi4,5p 2 may be required for the membrane localization of fbp17 as well as the waspwip complex and dynamin 2, to determine where podosomes will form. The dnm2 gene provides instructions for making a protein called dynamin 2. In humans, dynamin 1like protein, which is typically referred to as dynamin related protein 1 drp1, is encoded by the dnm1l gene. Atlas of human intestinal protozoa microscopic identification 2010. Both the modern and ancient dynamin family proteins considered here are large.
Dynamin regulates autophagy by modulating lysosomal. Hudy 1 recognizes the epitope of residues 822838 within the proline. The inner membrane protein opa1 is named based on its identification as a mutated gene in optic atrophy. Myotubularin mtm1, dynamin2 dnm2, hjumpy mtmr14, striated muscle. Of distinct interest, dynamin 2 is associated with clathrindependent and clathrinindependent endocytosis, as well as intracellular membrane trafficking. Multiple unique missense mutations, or short deletions, within the middle, ph and stalk domains of dynamin 2 have been identified in patients with two autosomal dominant genetic conditions, intermediate charcotmarietooth disease 149 and centronuclear myopathy 150. Ebola virus enters host cells by macropinocytosis and clathrin. I have the online version of this book for my survey of human diseases class, but im oldschool and i prefer to have something in my hands. Dynamin and endocytosis are required for the fusion of. Dynamin itself is a 96 kda enzyme, and was first isolated when researchers were attempting to isolate new microtubulebased motors from the bovine brain. Human diseases chapter 2 mechanisms of disease flashcards.
Infectious diseases of humans dynamics and control roy m. Pdf dynamin 2 mutations associated with human diseases. Dynamin 2 function and dysfunction along the secretory pathway. Dynamin 2 is required for phagocytosis in macrophages. Zebrafish as a model to study cardiac development and human cardiac disease. Hinges 1 and 2, and the trunk tip represent regions of high flexibility. Dynamin 2 is a protein that in humans is encoded by the dnm2 gene. Correlate airborne viral infection and disease severity with viral virulence factors 1. Recently, mutations in the ubiquitously expressed dynamin 2 dyn2 protein were found in patients with charcotmarietooth cmt disease, which is an inherited peripheral neuropathy. Fusion and fission is to discuss recent developments in mitochondrial dynamics in aging, cancer, cardiovascular, diabetesobesity, agerelated neurodegenerative diseases, and inherited mitochondrial diseases. Drp1, which is a member of the dynamin superfamily of proteins, consists of a gtpase and gtpase effector domain that are separated from each other by a helical segment of amino acids. These are caused due to nutritional deficiency such as that of minerals or vitamins in the diet e. Cells free fulltext dynamics of dynaminrelated protein.
Most common diseaserelated dynamin2 mutations are represented. Novel dynamin 2 mutations in adult tcell acute ymphoblastic leukemia. Overexpression of a dominant negative form of dynamin 2 inhibits the endocytosis of ampa receptors following glutamate application carroll et al. Some important terms to remember human diseases pdf download notes for ssc cgl 2017,upsc,nda,cds. The expanding spectrum of neurological disorders of. Victorian state government, australia blue book guidelines for the control of infectious diseases victorian state government 2009 270 pp. Dynamin is part of the dynamin superfamily, which includes classical dynamins, dynamin like proteins, mx proteins, opa, mitofusins, and gbps. Here we present the crystal structure of the human dynamin tetramer in the nucleotidefree state. Dynamin has been extensively studied in the context of clathrincoated vesicle budding from the cell membrane. Disease handbook new hampshire department of health. It is involved in endocytosis, which is a process that brings substances into the cell.
A new study shows that mutations in the gene encoding dynamin 2 underlie a distinct form of peripheral neuropathy, establishing the first link between dynamins and human disease. Dynamin 2 is a 100 kda multidomain protein and a member. The structure was solved by molecular replacement, using the nucleotidefree rat dynamin 1 gtpase domain, the human dynamin 1 ph and a portion of the human mxa stalk, as sequential search models. Human diseases pdf download notes for ssc cgl 2017,upsc,nda. Distinct dnm2 mutations, affecting the middle domain md and the pleckstrin homology domain ph, have been. There are 3 mouse and 6 human isoforms of drp1, including a brainspecific variant. Cancer of bloodforming tissues, abnormal increase in immature white blood cells, neutropenia increased susceptibility to infections, thrombocytopenia prolonged bleeding time due to decreased platelet production, bone marrow infiltration of leukemic cells results in decreased red blood cells anemia. Autophagy is a central lysosomal degradation pathway required for maintaining cellular homeostasis and its dysfunction is associated with numerous human diseases. Immigration from or travel to a developing country within 6 months prior to onset.
This was a required text, and its a nice overview of the topics, but i have found multiple mistakestypos in this text which is so annoying from a legitimate text book from a big publisher. Human infection due to ebola virus, subtype cote divoire. Characterization and knockdown of zebrafish dynamin 2 thesis submitted in partial fulfillment of the requirements for the degree of bachelor of science in neuroscience with honors from the. This ubiquitously expressed protein has also been shown to participate in the regulation of actin and microtubule networks2,3. Mutations in dynamin 2, but not in dynamin 1 or 3, can lead to congenital diseases in humans. Pdf dynamin2 function and dysfunction along the secretory. Report the common viral diseases spread by airborne transmission 2. This protein regulates mitochondrial fusion and cristae structure in the inner mitochondrial membrane imm and contributes to atp synthesis and. An increasing number of mutations in the human classical dynamins, dyn1 and dyn2 has been reported, with diseases caused by these. In this chapter we examine the recent literature on the mitochondrial dynamicsfunction relationship, and explore how it impacts on the development and progression of human diseases. Pdf mild functional differences of dynamin 2 mutations.
Insights into dynamin associated disorders through. The mild functional defects are suggestive of differences between cmt and cnm disease causing dynamin 2 mutants and suggest that a slight impairment in clathrinmediated pathways may accumulate over time to foster the respective human diseases. Essentials of human disease edition 2 by leonard crowley. The eu and research using mouse models the eu has long been at the forefront of efforts to improve mouse models so that the data. The general dynamin fold is well conserved from bacteria through to humans.
Insights into dynaminassociated disorders through analysis of. Dynamin domain organization, dnm2 disease mutations, and its. Hudy 1 is a monoclonal antibody that recognizes both dynamin 1 and dynamin 2. Davis and joshua lederberg editors emerging infectious diseases from the global to the local perspective. Dynamin 2 mutations associated with human diseases impair. Parkin, e3 ligase huwe1, mulan and bcl 2 family members. Diseases that are preventable with vaccines 2 pages. Isoform and splicevariant specific functions of dynamin2. This book is designed for students who have limited time to master basic disease concepts. Epigenetic dysregulation of the drp1 binding partners. The particles are aggregates of macromolecules, parts of other cells, and even whole microorganisms and, in contrast to pinocytosis shown in fig.
Tks5 and dynamin2 enhance actin bundle rigidity in. Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and charcotmarietooth peripheral neuropathy. Dynamin 2 nprap colocalization and direct interaction in vivo, was investigated. Membranes free fulltext the bar domain superfamily. Mitochondrial fission in human diseases springerlink. The purpose of this article is to highlight the role of dynaminrelated protein 1 drp1 in abnormal mitochondrial dynamics, mitochondrial fragmentation, autophagymitophagy, and neuronal damage in alzheimers disease ad and other neurological diseases, including parkinsons, huntingtons, amyotrophic lateral sclerosis, multiple sclerosis, diabetes, and obesity. Dynamin 2 is ubiquitously expressed 6, and mutations in its middle domain md, pleckstrin homology ph domain and gtpase effector domain ged are linked to human diseases, for example, rare. Characterization and knockdown of zebrafish dynamin 2. The gactin was polymerized by the addition of 50 mm kcl, 2 mm mgcl 2, and 1 mm atp for 1 h at room temperature. A recent publication has demonstrated a role for a particular dyn2cnm mutation in autophagy in.
Instructor curriculum resource ta essentials of human diseases and conditions sak1 chapter 10 word definitions 1. Dynamin is a gtpase responsible for exocytosis in the eukaryotic cell. A compendium of human diseases that affect intracellular transport processes. This book deals with infectious diseases viral, bacterial, protozoan and helminth in terms of the dynamics of their interaction with host populations. Identify typical signs and symptoms of viral diseases spread by airborne transmission 3. The epub format uses ebook readers, which have several ease of reading features already built in. Acute communicable disease control manual b73 revisionaugust 2011 part iv.
Lipid droplet breakdown requires dynamin 2 for vesiculation of autolysosomal tubules in hepatocytes. Defects at the triad underlie a wide range of human muscle disorders including centronuclear myopathies cnms. Discover the best infectious diseases in best sellers. Giovanni swierczynski, maria gobbo atlas of human malaria 2007 400 pp. Dynamin 2 dnm2 as cause of, and modifier for, human. Phagocytosis is a type of endocytosis that involves uptake of large solid particles, often 0. Find the top 100 most popular items in amazon books best sellers.
Furthermore, we show that the defective fusion in dynamin 1 and 2 deficient cells can be efficiently rescued in vitro by dynamin 2 and dynamin 1 albeit less efficiently but not by dynamin mutants in which the prd, the ph, or the gtpase domains were deleted or mutated mooren et al. Nancy eng of the nhlbi who has for many years demonstrated extraordinary dedication to ensuring the quality of both the. On the other hand, the murine ehd3 gene is located in chromosome 17, in the 21st region. Dynamin 2 is enriched on early phagosomes, and expression of a dominantnegative mutant of dynamin 2 significantly inhibits particle internalization at the stage of membrane extension around the particle. Increased dynamin expression precedes proteinuria in glomerular. Insights into dynamin associated disorders through analysis. Dynamin 2 dnm2 mutations cause autosomal dominant centronuclear myopathy, a rare form of congenital myopathy, and intermediate and axonal forms of charcotmarietooth disease, a peripheral neuropathy. The coexistence of dynamin 2 mutation and multiple mitochondrial dna mtdna deletions in the background of severe cardiomyopathy and centronuclear myopathy. In macrophages, fbp17 interacts with the waspwip complex and dynamin 2 to form podosomes, through its fbar and sh3 domains.
Blue book guidelines for the control of infectious diseases victorian state government 2009 270 pp. Dynamin 2 dnm2 is a large gtpase involved in the release of nascent vesicles during endocytosis and intracellular membrane trafficking. New hampshire department of health and human services. We report here that dynamin 2, a ubiquitously expressed dynamin isoform, has a role in phagocytosis in macrophages. These guidelines for the treatment of persons who have or are at risk for sexually transmitted diseases stds were updated by cdc after consultation with a group of professionals knowledgeable in the field of stds who met in atlanta on april 30may 2, 20. This machinery will be discussed in greater detail in the sections below. Though dynamin 1 is found primarily at presynaptic terminals, dynamin 2 is present at the psd and interacts with actin, shank, and cortactin binding protein 1 cortbp1 okamoto et al. Dynamin 2 and human diseases 3 february 2010 journal of molecular medicine, vol. Several proteins are critical for the regulation of fission and fusion, including dynamin related protein 1 drp1, mitochondrial fusion protein 1 mfn1 and 2 mfn2, and optic atrophy 1 opa1 protein 8, 12, 53. Members of the dynamin family are principally involved in the scission of newly formed vesicles from the membrane of one cellular compartment and their targeting. A centronuclear myopathy dynamin 2 mutation impairs skeletal muscle structure and function in mice article pdf available in human molecular genetics 1924. Dynamin 2 at least partially regulated oxldlinduced apoptosis of vsmc by participating in 2 independent pathways. Start studying human diseases chapter 2 mechanisms of disease. Dynamin superfamily proteins comprising classical dynamins and related proteins are membrane remodelling agents involved in several biological processes such as endocytosis, maintenance of organelle.
Pdf the coexistence of dynamin 2 mutation and multiple. The human gene is formed approximately of 35,438 bases. Dnm2 is a large gtpase mainly involved in membrane trafficking through its function in the formation and release of nascent vesicles from biological membranes. Learn vocabulary, terms, and more with flashcards, games, and other study tools. One potential therapeutic target, due to its participation in a wide variety of protumorigenic processes, is the large gtpase dynamin 2.
Some common human diseases 266 biology notes module 4 environment and health iii deficiency diseases. Step by step instruction to make a face mask with illustration. About frontiers institutional membership books news frontiers social. Drp1 exists as homooligomers and its function relies on its oligomerization ability. We found that the classical dynamin dnm1 and dnm3 genes reach their maximum expression levels 100% of maximal expression in all normal human cns tissues studied. The most severe form of the disease, xlinked centronuclear myopathy, is due to mutations in the gene encoding myotubularin mtm1, while mutations in dynamin 2 dnm2 and amphiphysin 2 bin1 amph2 cause milder forms of myopathy. The budding yeast, saccharomyces cerevisiae expresses a single dynamin related protein.
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