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Substrate Reduction Therapy
Substrate reduction therapy offers an approach to treatment of certain metabolic disorders, especially glycogen storage diseases and lysosomal storage disorders. In a storage disorder, a critical failure in a metabolic pathway prevents cellular breakdown and disposal of some large molecule. If residual breakdown through other pathways is insufficient to prevent harmful accumulation, the molecule accumulates in the cell and eventually interferes with normal biological processes. Examples of lysosomal storage disorders include Gaucher's disease, Tay–Sachs disease, Sandhoff disease, and Sanfilippo syndrome. In a metabolic or genetic pathway, enzymes catalyze a series of reactions. Each enzyme is regulated or mediated by one gene through its RNA and protein products. At each phase in the pathway, enzyme activity catalyzes a reaction in which a precursor molecule (the substrate) is transformed into its next intermediate state. Failure of the metabolic pathway leads to accumulation of th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Metabolic Disorder
A metabolic disorder is a disorder that negatively alters the body's processing and distribution of macronutrients, such as proteins, fats, and carbohydrates. Metabolic disorders can happen when abnormal chemical reactions in the body alter the normal metabolic process. It can also be defined as inherited single gene anomaly, most of which are autosomal recessive. Signs and symptoms Some of the symptoms that can occur with metabolic disorders are lethargy, weight loss, jaundice and seizures. The symptoms expressed would vary with the type of metabolic disorder. There are four categories of symptoms: acute symptoms, late-onset acute symptoms, progressive general symptoms and permanent symptoms. Causes Inherited metabolic disorders are one cause of metabolic disorders, and occur when a defective gene causes an enzyme deficiency. These diseases, of which there are many subtypes, are known as inborn errors of metabolism. Metabolic diseases can also occur when the liver or pa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nerve Cell
A neuron, neurone, or nerve cell is an electrically excitable cell that communicates with other cells via specialized connections called synapses. The neuron is the main component of nervous tissue in all animals except sponges and placozoa. Non-animals like plants and fungi do not have nerve cells. Neurons are typically classified into three types based on their function. Sensory neurons respond to stimuli such as touch, sound, or light that affect the cells of the sensory organs, and they send signals to the spinal cord or brain. Motor neurons receive signals from the brain and spinal cord to control everything from muscle contractions to glandular output. Interneurons connect neurons to other neurons within the same region of the brain or spinal cord. When multiple neurons are connected together, they form what is called a neural circuit. A typical neuron consists of a cell body ( soma), dendrites, and a single axon. The soma is a compact structure, and the axon a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Glucosylceramide
Glucocerebroside (also called glucosylceramide) is any of the cerebrosides in which the monosaccharide head group is glucose. Clinical significance In Gaucher disease, the enzyme glucocerebrosidase is nonfunctional and cannot break down glucocerebroside into glucose and ceramide in the lysosome. Affected macrophages, called Gaucher cells, have a distinct appearance similar to "wrinkled tissue paper" under light microscopy, because the substrates build-up within the lysosome. See also * Glucosylceramide synthase * Gauchers disease * Glucocerebrosidase β-Glucocerebrosidase (also called acid β-glucosidase, D-glucosyl-N-acylsphingosine glucohydrolase, or GCase) is an enzyme with glucosylceramidase activity () that is needed to cleave, by hydrolysis, the beta-glycosidic linkage of the chemical ... References External links * * Glycolipids Carbohydrates {{biochem-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Eliglustat
Eliglustat, sold under the brand name Cerdelga, is a medication used for the treatment of Gaucher's disease. It was discovered at the University of Michigan, developed by Genzyme Corp, and was approved by the FDA in August 2014. Commonly used as the tartrate salt, the compound is believed to work by inhibition of glucosylceramide synthase. According to an article in ''Journal of the American Medical Association'' the oral substrate reduction therapy resulted in "significant improvements in spleen volume, hemoglobin level, liver volume, and platelet count" in untreated adults with Gaucher disease Type 1. History Norman Radin began exploring the possibility of inhibiting the synthesis of lipid substrates involved in Gaucher's disease as early as 1982, and, in collaboration with the laboratory of Jim Shayman, found several candidate inhibitors in the mid-1990s. Genzyme initially rejected the candidates developed by Radin and Shayman, but after a news broke of a competitor developi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Miglustat
Miglustat, sold under the brand name Zavesca, is a medication used to treat type I Gaucher disease (GD1). It is also known as N-butyldeoxynojirimycin, and is a derivative of the anti-diabetic 1-deoxynojirimycin. It was developed by Oxford GlycoSciences and is marketed by Actelion. Miglustat has been approved in the EU, Japan, and Canada for treating progressive neurological complications in people with Niemann–Pick disease, type C (NPC). It was approved for medical use in the European Union in November 2002, and for medical use in the United States in July 2003. Medical uses Miglustat is indicated to treat adults with mild to moderate type I Gaucher disease for whom enzyme replacement therapy is unsuitable. Contraindications Miglustat is contraindicated for people with neurological conditions, kidney problems, women who are pregnant, and men and women planning to conceive a child. Adverse effects Serious side effects include pain, burning, numbness or tingling in the hand ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sialidase
Exo-α-sialidase (EC 3.2.1.18, sialidase, neuraminidase; systematic name acetylneuraminyl hydrolase) is a glycoside hydrolase that cleaves the glycosidic linkages of neuraminic acids: : Hydrolysis of α-(2→3)-, α-(2→6)-, α-(2→8)- glycosidic linkages of terminal sialic acid residues in oligosaccharides, glycoproteins, glycolipids, colominic acid and synthetic substrates Neuraminidase enzymes are a large family, found in a range of organisms. The best-known neuraminidase is the viral neuraminidase, a drug target for the prevention of the spread of influenza infection. The viral neuraminidases are frequently used as antigenic determinants found on the surface of the influenza virus. Some variants of the influenza neuraminidase confer more virulence to the virus than others. Other homologues are found in mammalian cells, which have a range of functions. At least four mammalian sialidase homologues have been described in the human genome (see NEU1, NEU2, NEU3, NEU4). Sia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nervous Tissue
Nervous tissue, also called neural tissue, is the main tissue component of the nervous system. The nervous system regulates and controls body functions and activity. It consists of two parts: the central nervous system (CNS) comprising the brain and spinal cord, and the peripheral nervous system (PNS) comprising the branching peripheral nerves. It is composed of neurons, also known as nerve cells, which receive and transmit impulses, and neuroglia, also known as glial cells or glia, which assist the propagation of the nerve impulse as well as provide nutrients to the neurons. Nervous tissue is made up of different types of neurons, all of which have an axon. An axon is the long stem-like part of the cell that sends action potentials to the next cell. Bundles of axons make up the nerves in the PNS and tracts in the CNS. Functions of the nervous system are sensory input, integration, control of muscles and glands, homeostasis, and mental activity. Structure Nervous tissue i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lipids
Lipids are a broad group of naturally-occurring molecules which includes fats, waxes, sterols, fat-soluble vitamins (such as vitamins A, D, E and K), monoglycerides, diglycerides, phospholipids, and others. The functions of lipids include storing energy, signaling, and acting as structural components of cell membranes. Lipids have applications in the cosmetic and food industries, and in nanotechnology. Lipids may be broadly defined as hydrophobic or amphiphilic small molecules; the amphiphilic nature of some lipids allows them to form structures such as vesicles, multilamellar/ unilamellar liposomes, or membranes in an aqueous environment. Biological lipids originate entirely or in part from two distinct types of biochemical subunits or "building-blocks": ketoacyl and isoprene groups. Using this approach, lipids may be divided into eight categories: fatty acyls, glycerolipids, glycerophospholipids, sphingolipids, saccharolipids, and polyketides (derived from condens ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Brain
The brain is an organ that serves as the center of the nervous system in all vertebrate and most invertebrate animals. It consists of nervous tissue and is typically located in the head ( cephalization), usually near organs for special senses such as vision, hearing and olfaction. Being the most specialized organ, it is responsible for receiving information from the sensory nervous system, processing those information (thought, cognition, and intelligence) and the coordination of motor control (muscle activity and endocrine system). While invertebrate brains arise from paired segmental ganglia (each of which is only responsible for the respective body segment) of the ventral nerve cord, vertebrate brains develop axially from the midline dorsal nerve cord as a vesicular enlargement at the rostral end of the neural tube, with centralized control over all body segments. All vertebrate brains can be embryonically divided into three parts: the forebrain (prosencep ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ganglioside
A ganglioside is a molecule composed of a glycosphingolipid ( ceramide and oligosaccharide) with one or more sialic acids (e.g. ''N''-acetylneuraminic acid, NANA) linked on the sugar chain. NeuNAc, an acetylated derivative of the carbohydrate sialic acid, makes the head groups of gangliosides anionic at pH 7, which distinguishes them from globosides. The name ''ganglioside'' was first applied by the German scientist Ernst Klenk in 1942 to lipids newly isolated from ganglion cells of the brain. More than 60 gangliosides are known, which differ from each other mainly in the position and number of NANA residues. It is a component of the cell plasma membrane that modulates cell signal transduction events, and appears to concentrate in lipid rafts. Recently, gangliosides have been found to be highly important molecules in immunology. Natural and semisynthetic gangliosides are considered possible therapeutics for neurodegenerative disorders. Location Gangliosides are prese ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Glycogen Storage Diseases
A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by an enzyme deficiency affecting glycogen synthesis, glycogen breakdown, or glucose breakdown, typically in muscles and/or liver cells. GSD has two classes of cause: genetic and acquired. Genetic GSD is caused by any inborn error of metabolism (genetically defective enzymes) involved in these processes. In livestock, acquired GSD is caused by intoxication with the alkaloid castanospermine. Types Remarks: * Some GSDs have different forms, e.g. infantile, juvenile, adult (late-onset). * Some GSDs have different subtypes, e.g. GSD1a / GSD1b, GSD9A1 / GSD9A2 / GSD9B / GSD9C / GSD9D. * GSD type 0: Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified with the GSDs as type 0 because it is another defect of glycogen storage and can cause similar problems. * GSD type VIII (GSD 8): In the past it was considered a disti ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fatty Acid
In chemistry, particularly in biochemistry, a fatty acid is a carboxylic acid with an aliphatic chain, which is either saturated or unsaturated. Most naturally occurring fatty acids have an unbranched chain of an even number of carbon atoms, from 4 to 28. Fatty acids are a major component of the lipids (up to 70% by weight) in some species such as microalgae but in some other organisms are not found in their standalone form, but instead exist as three main classes of esters: triglycerides, phospholipids, and cholesteryl esters. In any of these forms, fatty acids are both important dietary sources of fuel for animals and important structural components for cells. History The concept of fatty acid (''acide gras'') was introduced in 1813 by Michel Eugène Chevreul, though he initially used some variant terms: ''graisse acide'' and ''acide huileux'' ("acid fat" and "oily acid"). Types of fatty acids Fatty acids are classified in many ways: by length, by saturation vs unsat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
