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1 Chapter 43 Inborn Metabolic Defects of Lysosomes, Peroxisomes, Carbohydrates, Fatty Acids and Mitochondria Copyright © 2012, American Society for Neurochemistry. Published by Elsevier Inc. All rights reserved.
2 TABLE 43-1: Lysosomal Storage Diseases Copyright © 2012, American Society for Neurochemistry. Published by Elsevier Inc. All rights reserved.
3 TABLE 43-1: Lysosomal Storage Diseases
4 TABLE 43-2: Diseases of Peroxisomal Biogenesis Copyright © 2012, American Society for Neurochemistry. Published by Elsevier Inc. All rights reserved.
5 TABLE 43-3: Single Peroxisomal Enzyme Diseases Copyright © 2012, American Society for Neurochemistry. Published by Elsevier Inc. All rights reserved.
6 TABLE 43-4: Clinical Features of Mitochondrial Diseases Associated with mtDNA Mutations Copyright © 2012, American Society for Neurochemistry. Published by Elsevier Inc. All rights reserved.
7 FIGURE 43-1: Electron micrograph of a Twitcher myelinated axon. The cross-section of this sciatic nerve was taken from a sick mutant mouse and shows an axon engulfed by its Schwann cell. The cytoplasm of the myelinating Schwann cell is filled with enlarged vacuoles and membrane structures. Crystallized deposits of undigested material, also known as Krabbe crystals, are clearly visible (arrows). Bar: 500 nm. (Courtesy of Robert P. Becker et al., College of Medicine, University of Illinois at Chicago). Copyright © 2012, American Society for Neurochemistry. Published by Elsevier Inc. All rights reserved.
8 FIGURE 43-2: Schematic representation of glycogen metabolism and glycolysis. Roman numerals indicate the sites of identified enzyme defects: I, glucose-6-phosphatase; II, acid maltase; III, debrancher enzyme; IV, brancher enzyme; V, muscle phosphorylase; VI, liver phosphorylase; VII, phosphofructokinase; VIII, phosphorylase kinase; IX, phosphoglycerate kinase; X, phosphoglycerate mutase; XI, lactate dehydrogenase; XII, aldolase; XIII, β-enolase. GLUT 1, glucose transporter; P, phosphate; PEP, phosphoenolpyruvate; PLD, phosphorylase-limit dextrin; UDPG, uridine diphosphate glucose. Copyright © 2012, American Society for Neurochemistry. Published by Elsevier Inc. All rights reserved.
9 FIGURE 43-3: Schematic representation of fatty acid oxidation. This metabolic pathway is divided into the carnitine cycle (A), the inner mitochondrial membrane system (B), and the mitochondrial matrix system (C). The carnitine cycle includes the plasma membrane transporter (Tp), carnitine palmitoyltransferase I (CPT I), the carnitine–acylcarnitine translocase system (Tl) and carnitine palmitoyltransferase II (CPT II). The inner mitochondrial membrane system includes the very-long-chain acyl-CoA dehydrogenase (VLCAD) and the trifunctional protein with three catalytically active sites. Long-chain acylcarnitines enter the mitochondrial matrix by the action of CPT II to yield long-chain acyl-CoAs. These thioesters undergo one or more cycles of chain shortening catalyzed by the membrane-bound system. Chain-shortened acyl-CoAs are degraded further by the matrix β-oxidation system. Medium-chain fatty acids enter the mitochondrial matrix directly and are activated to the medium-chain acyl-CoAs before degradation by the matrix β-oxidation system. AD, acyl-CoA dehydrogenase; AS, acyl-CoA synthetase; CoA, coenzyme A; CPT, carnitine palmitoyltransferase; EH, 2-enoyl-CoA hydratase; HD, 3-hydroxyacyl-CoA dehydrogenase; KT, 3-ketoacyl-CoA thiolase; LC, long chain; MC, medium chain; SC, short chain; TL, carnitine-acylcarnitine translocase; T p, carnitine transporter; VLC, very long chain. (With permission from reference Platt & Walkley, 2004.) Copyright © 2012, American Society for Neurochemistry. Published by Elsevier Inc. All rights reserved.
10 FIGURE 43-4: Schematic representation of mitochondrial metabolism. Respiratory chain complexes or components encoded exclusively by the nuclear genome are light orange. Complexes containing some subunits encoded by the nuclear genome and others encoded by mitochondrial DNA are dark orange. CPT, carnitine palmitoyltransferase; PDHC, pyruvate dehydrogenase complex; CoA, coenzyme A; TCA, tricarboxylic acid; CoQ, coenzyme Q; Cyt c, cytochrome c. (Modified from reference (Conradi et al., 1984), with permission of McGraw-Hill, New York). Copyright © 2012, American Society for Neurochemistry. Published by Elsevier Inc. All rights reserved.
Energy Metabolism of the Brain
Tricarboxylic Acid Cycle
Gluconeogenesis Synthesis of "new glucose" from common metabolites
Control of mitochondrial gene expression Nuclear encoded mitochondrial gene expression Mitochondrial encoded genes Must be coordinated All of the enzymes.
Electron Transport and Oxidative Phosphorylation It all reduces down to water.
The Oxidative Phosphorylation. ATP as energy currency Mitochondria and the electron transport chain organization Inhibitors of the electron transport.
1. A. Lavoisier in the 1700’s can make wine without living organisms 2. F. Wohler and J. von Leibig supported this idea, but T. Schwann showed juice would.
Carbohydrate, Lipid, and Protein Metabolism
Fig. 9.1 Respiration. Cellular Energy Harvest: an Overview Stages of Aerobic Cellular Respiration –Glycolysis –Oxidation of Pyruvate –Krebs Cycle –Electron.
Copyright © 2004 Pearson Education, Inc., publishing as Benjamin Cummings High-energy phosphate groups are transferred directly from phosphorylated substrates.
Chapter 13 How Cells Obtain Energy from Food. From Chapter 3 (Energy) Sun is source of all energy Through photosynthesis/dark reactions, plants convert.
Glycolysis = breakdown of sugars; glycogen, glucose, fructose Where in body? Where in cell? What are the inputs? What are the outcomes? Oxygen required?
Ch 9 Cellular Respiration Extracting usable energy from organic molecules.
How Cells make ATP: Energy-Releasing Pathways
Figure 24-17Schematic representation of the thylakoid membrane showing the components of its electron-transport chain. Page 886.
Do the Pathway Shuffle! M G1G1 G2G2 S Start here Induce! Revert! Horizontal Transfer Induce! Pick Copyright 2014 by Michael V. Osier. All rights reserved.
Fatty Acid Catabolism C483 Spring Which lipid form is transported across the inner mitochondrial membrane before β-oxidation? A) Acylcarnitine.
Beta oxidation of fatty acids takes place in the mitochondrial matrix for the most part. However, fatty acids have to be activated for degradation by coenzyme.
Energy Releasing Pathways (Cell Respiration) I. Introduction A. History 1. A. Lavoisier in the 1700’s can make wine without living organisms 2. F. Wohler.
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