دانلود رایگان مقاله لاتین بیماری متابولیسم از سایت الزویر
عنوان فارسی مقاله:
پیشرفت های اخیر در ابزارهای تشخیصی در بیماری های متابولیسم انرژی میتوکندریال
عنوان انگلیسی مقاله:
Recent advancements in diagnostic tools in mitochondrial energy metabolism diseases
سال انتشار : 2016
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مقدمه انگلیسی مقاله:
1. Introduction
The first report linking a deficiency (or ‘‘loose coupling’’) of the mitochondrial oxidative phosphorylation system (OXPHOS) to a human disease phenotype was by Luft [1]. This introduced mitochondrial medicine and the concept of mitochondrial disorders/disease as an inborn disorder of energy metabolism [2]. Since then, the classical view of mitochondrial disease is a rare monogenic nuclear (nDNA) or mitochondrial DNA (mtDNA) encoded deficiency of the OXPHOS system, which has led to the identification of more than 241 genes involved in mitochondrial disease [3] and regarded amongst the most frequently inherited metabolic disorders in newborns with any mode of inheritance possible [4]. This may not be surprising considering that, of the 1000 proteins making up the mitochondrion (Mitocarta), the OXPHOS system consists of 89 subunits, of which 13 structural subunits are encoded by mtDNA (in addition to 22 tRNA and two rRNA’s) and 76 are nuclear encoded [5,6]. In addition to these, a great number of proteins are involved in import, assembly and regulation of the OXPHOS system and its products. A further notable aspect of a deficiency of the OXPHOS system is varied and unpredictable biochemical consequences, which include alteration of respiration, coupling, ATP production, Reactive oxygen species (ROS) production and the structural and functional cellular effects that may result [7]. ROS production from mitochondria have been implicated in various forms of cell signaling processes including activation of eNOS [8], NF-kB [9], ERK, AKT, P38MAPK [10] and modulation of intracellular calcium [11]. Mitochondrial derived ROS serves as both; signaling agent as well as a major source of oxidative stress. Under mitochondrial stress, the Ca+2 level as well as ROS production increases, initiating apoptosis and necrosis. These factors, which are all key metabolites to cellular health sensing, contribute to the hallmark of mitochondrial disease, which is its clinical and biochemical heterogeneity and the wideranging approaches currently implemented or under consideration to treat disorders of energy metabolism [12]. It also created the awareness over time that the etiology of mitochondrial disease may not only be relevant to rare disease phenotypes, but also to other common diseases. As recently reviewed by Naviaux [13],
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کلمات کلیدی:
Recent advancements in diagnostic tools in mitochondrial energy ... https://www.ncbi.nlm.nih.gov/pubmed/26998934 by N Khan - 2016 - Cited by 1 - Related articles Recent advancements in diagnostic tools in mitochondrial energy metabolism diseases. Khan N(1). Author information: (1)Centre for Human Metabonomics, ... [PDF]1 iranarze.ir/wp-content/uploads/2016/10/E2027.pdf Feb 17, 2016 - Recent advancements in diagnostic tools in mitochondrial energy metabolism diseases. Naazneen Khan *. Centre for Human Metabonomics, ... Inherited Metabolic Disease in Adults: A Clinical Guide https://books.google.com/books?isbn=0199972133 Carla E. M. Hollak, Robin Lachmann - 2016 - Medical GENETIC TESTING For most patients with adult-onset mitochondrial disease, initial ... Although this is currently a research tool, it is likely to be adopted into routine ... the results 52 | DISORDERS OF MITOCHONDRIAL ENERGY METABOLISM. [PDF]Mitochondrial disorders: Overview of diagnostic tools ... - Dr Fran Kendall vmpgenetics.com/.../Overview_of_Diagnostic_Tools_and_new_trends_in_Mito.pdf Special Issue: Mitochondrial, Metabolic and Nutritional Disorders Associated with .... of which can result in decreased energy production and mitochondrial ... Neurobiology of Disease - Page 431 - Google Books Result https://books.google.com/books?isbn=0199937834 Michael V. Johnston, Harold P. Adams, Ali Fatemi - 2016 - Medical Because mitochondrial diseases are so heterogeneous and the biochemical ... can signify that something is awry with mitochondrial energy metabolism. ... for underlying mitochondrial dysfunction.27 MRI with MRS is a very useful tool and ... Mitochondria and Their Role in Cardiovascular Disease https://books.google.com/books?isbn=146144599X José Marín-García - 2012 - Medical MitoP2: an integrative tool for the analysis of the mitochondrial proteome. Mol Biotechnol. ... Mitochondrial calcium signaling and energy metabolism. Ann N Y ... Mitochondrial Inhibitors and Neurodegenerative Disorders https://books.google.com/books?isbn=1592596924 Paul R. Sanberg, Hitoo Nishino, Cesario V. Borlongan - 1999 - Medical ... may be caused by impairment of mitochondrial energy metabolism with chemical ... Owing to their specificity, application of these substances provides a tool to ... Mitochondrial diseases in childhood: a clinical approach to ... onlinelibrary.wiley.com/doi/10.1111/j.1469-8749.2009.03605.x/full by JE KISLER - 2010 - Cited by 34 - Related articles Feb 12, 2010 - Mitochondrial diseases in children are increasingly recognized. ..... muscle, is proving a useful research tool in investigating energy metabolism ... Traditional and novel tools to probe the mitochondrial metabolism in ... onlinelibrary.wiley.com/doi/10.1002/wsbm.1373/pdf by Y Zhang - 2017 - Related articles Mitochondrial metabolism links energy production to other essential cellular ... human diseases, including inherited mitochondrial disorders, cardiac dysfunc-.
