Biochemical genetics 2 1-15
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This document discusses different types of biochemical disorders caused by enzyme deficiencies. It covers several key areas: - Metabolic disorders are often inherited and can affect enzyme activity levels. Disorders like Parkinson's disease and schizophrenia may involve alterations in the enzyme tyrosine hydroxylase. - Enzyme deficiencies can occur in various metabolic pathways like phenylalanine, urea cycle, carbohydrate, steroid, lipid, lysosomal, purine, copper, and peroxisome metabolism. - Specific disorders touched on include homocystinuria, urea cycle disorders, glycogen storage diseases, congenital adrenal hyperplasia, familial hypercholesterolemia, Wilson's disease, Zellwe
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DEFINITION:
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Cystic fibrosis is a genetic disease that affect mostly lungs and also the pancreas.
Screening test:
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For eg : It is the one of the most common lethal autosomal recessive disorder in Europe.
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This irregularly shaped cells stucks in small blood vessels which can slow and block the blood flow and oxygen to all the parts of the body.
There’s no cure for sickle cell anemia.
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CYSTIC FIBROSIS:
Cystic fibrosis is a genetic disease that affect mostly lungs and also the pancreas.
Screening test:
It is a complex process
Large number of genetic alterations have to be done.
For eg : It is the one of the most common lethal autosomal recessive disorder in Europe.
It is caused by mutations to cystic fibrosis transmembrane conductance regulator(CFTR) gene .
Screening individuals who may be at risk for cystic fibrosis for 500 different mutations is a daunting task.
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It is a disorder where red blood cells become rigid and sticky and are shaped like “sickle”.
This irregularly shaped cells stucks in small blood vessels which can slow and block the blood flow and oxygen to all the parts of the body.
There’s no cure for sickle cell anemia.
Screening for sickle cell anemia:
SCA is a genetic disease that is the result of a single nucleotide change in the codon for the sixth aminoacid of the β- chain of the hemoglobin molecule.
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Apart from the nucleus DNA is also found within another cellular organelle, the mitochondrion.
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METABOLISM
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Biotransformation/Xenobiotic metabolism/ drug metabolism/detoxification.
-Xenobiotics: a wide variety of foreign compounds to which humans get exposed in day to day life.
-It includes unknown compounds, drugs, environmental pollutants, toxins.
-Many xenobiotics can evoke biological responses.
DEFINITION
The biochemical alteration of drug or xenobiotic in the presence of various enzymes that acts as a catalyst which themselves not consumed in the reaction and there by may activate or deactivate the drug is called biotransformation.
Why Biotransformation is necessary?:
To easily eliminate the drug
To terminate drug action by inactivating it
Consequences of Biotransformation
Active to Inactive:
Phenobarbitone---- Hydroxyphenobarbitone
Inactive (prodrug) to Active :
L-Dopa ---- Dopamine
Parathion -- Paraoxon
Talampicillin -- Ampicillin
Active to equally active:
Diazepam -- Oxazepam
Amitriptyline -- Nortriptyline
Imipramine -- Des-imipramine
Codeine -- Morphine
Sites of biotransformation
In the body: Liver, small and large intestines, lungs, skin, kidney, nasal mucosa & brain.
Liver is considered “metabolite clearing house” for both endogenous substances and xenobiotics.
Intestines are considered “initial site of drug metabolism”.
FIRST PASS METABOLISM:
First pass metabolism or presystemic
metabolism or ‘first pass effect’
After oral administeration many drugs are absorbed from the small intestine - transported first via portal system to the liver, where they undergo extensive metabolism before reaching systemic circulation.
fundamental concepts in drug biotransformation
Lipid soluble drugs are poorly excreted in the urine. They tend to store in fat and/or circulate until they are converted (phase I biotransformation) to more water soluble metabolites or metabolites that conjugate (phase II biotransformation) with water soluble substances.
Water soluble drugs are more readily excreted in the urine. They may be metabolized, but generally not by the CYP enzyme systems.
Enzymes catalyzing phase I biotransformation reactions
Enzymes catalyzing phase I biotransformation reactions include:
cytochrome P-450
aldehyde and alcohol dehydrogenase
deaminases
esterases
amidases
epoxide hydratases
Addition of water
Cleavage of R-O or R-N bond accompanied by addition of H2O
CYTOCHROME P450
The cytochrome P-450 families are referred to using an arabic numeral, e.g., CYP1, CYP2, etc.
Each family has a number of subfamilies denoted by an upper case letter, e.g., CYP2A, CYP2B, etc.
The individual enzymes within each subfamily are denoted by another arabic numeral, e.g., CYP3A1, CYP3A2, etc.
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Author of this presentation: The University of Western Australia
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Metabolism and excretion
Metabolism is essential for eliminating drugs and other foreign substances from the body. Phase I metabolism makes compounds more polar through reactions like oxidation and hydrolysis. Phase II metabolism further increases polarity through conjugation. The liver is the primary site of metabolism, with cytochrome P450 enzymes performing many Phase I reactions. Metabolism inactivates most compounds but can also activate prodrugs. Factors like induction, inhibition, disease, age, sex and genetics can impact an individual's drug metabolism. Proper metabolism and excretion of compounds and their metabolites terminates their biological activity.
METABOLISM
biotransformation of drug
Biotransformation/Xenobiotic metabolism/ drug metabolism/detoxification.
-Xenobiotics: a wide variety of foreign compounds to which humans get exposed in day to day life.
-It includes unknown compounds, drugs, environmental pollutants, toxins.
-Many xenobiotics can evoke biological responses.
DEFINITION
The biochemical alteration of drug or xenobiotic in the presence of various enzymes that acts as a catalyst which themselves not consumed in the reaction and there by may activate or deactivate the drug is called biotransformation.
Why Biotransformation is necessary?:
To easily eliminate the drug
To terminate drug action by inactivating it
Consequences of Biotransformation
Active to Inactive:
Phenobarbitone---- Hydroxyphenobarbitone
Inactive (prodrug) to Active :
L-Dopa ---- Dopamine
Parathion -- Paraoxon
Talampicillin -- Ampicillin
Active to equally active:
Diazepam -- Oxazepam
Amitriptyline -- Nortriptyline
Imipramine -- Des-imipramine
Codeine -- Morphine
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In the body: Liver, small and large intestines, lungs, skin, kidney, nasal mucosa & brain.
Liver is considered “metabolite clearing house” for both endogenous substances and xenobiotics.
Intestines are considered “initial site of drug metabolism”.
FIRST PASS METABOLISM:
First pass metabolism or presystemic
metabolism or ‘first pass effect’
After oral administeration many drugs are absorbed from the small intestine - transported first via portal system to the liver, where they undergo extensive metabolism before reaching systemic circulation.
fundamental concepts in drug biotransformation
Lipid soluble drugs are poorly excreted in the urine. They tend to store in fat and/or circulate until they are converted (phase I biotransformation) to more water soluble metabolites or metabolites that conjugate (phase II biotransformation) with water soluble substances.
Water soluble drugs are more readily excreted in the urine. They may be metabolized, but generally not by the CYP enzyme systems.
Enzymes catalyzing phase I biotransformation reactions
Enzymes catalyzing phase I biotransformation reactions include:
cytochrome P-450
aldehyde and alcohol dehydrogenase
deaminases
esterases
amidases
epoxide hydratases
Addition of water
Cleavage of R-O or R-N bond accompanied by addition of H2O
CYTOCHROME P450
The cytochrome P-450 families are referred to using an arabic numeral, e.g., CYP1, CYP2, etc.
Each family has a number of subfamilies denoted by an upper case letter, e.g., CYP2A, CYP2B, etc.
The individual enzymes within each subfamily are denoted by another arabic numeral, e.g., CYP3A1, CYP3A2, etc.
Drug metabolism
Drug metabolism involves the biochemical modification of pharmaceutical substances by living organisms through specialized enzyme activity. There are four main stages: absorption, distribution, metabolism, and elimination. Drugs are metabolized to make them more hydrophilic so they can be excreted from the body. The two main phases of drug metabolism are phase I, which introduces functional groups to drugs through reactions like oxidation, and phase II, which involves conjugating drugs to make them more polar and excretable through conjugation reactions. Cytochrome P450 enzymes are largely responsible for phase I reactions. Factors like genetics, age, sex, disease states, and environmental exposures can impact an individual's drug metabolism capacity and response.
Pharmacokinetics metabolism and excretion
This document discusses the metabolism and excretion of drugs. It covers the following key points:
1. Drugs undergo biotransformation primarily in the liver through phase I (oxidation, reduction, hydrolysis) and phase II (conjugation) reactions to make them more polar and excretable.
2. The metabolites can be inactive, active, or activate prodrugs. Enzyme inhibition and induction can impact drug metabolism.
3. Excretion occurs mainly through the kidneys and liver into urine and bile. Lungs, saliva, sweat and milk are minor excretion routes.
4. The plasma half-life determines the dosing frequency needed to maintain therapeutic drug levels. D
Cytochrome P450
Cytochrome P450 enzymes are important for metabolizing xenobiotics in the body. There are many CYP isoforms located in the liver and intestine that catalyze phase I and phase II reactions to make xenobiotics more hydrophilic for excretion. Phase I reactions like oxidation and hydroxylation introduce reactive or polar groups. Phase II conjugates these compounds with glucuronic acid, glutathione, sulfate, or acetyl groups which greatly increases their water solubility and allows them to be secreted from cells and eliminated from the body. Several drug transporters then efflux the conjugated metabolites out of cells and across barriers to complete their removal from the body. Cytochrome P450 enzymes play a vital role in both the de
Chapter 4 Pharmacogenetics of drug pharmacokinetic profile.pptx
This document discusses the pharmacogenetics of drug metabolism. It describes how genetic variations in enzymes and transporters involved in the pharmacokinetic processes of drugs can affect drug concentrations. It focuses on the Phase I and Phase II drug metabolizing enzymes and transporters, providing details on polymorphisms in cytochrome P450 enzymes like CYP2D6, CYP2C19 and CYP2C9 that can impact drug metabolism and response. It also discusses the impact of variations in enzymes like TPMT and DPD on drugs metabolized by these pathways.
Genetic polymorphism in drug metabolism
Section 'a' of last chapter in Clinical Pharmacokinetics and Phrmacotherapeutic Drug Monitoring. This is useful for 5th year PHARM D students.
Biotransformation and elimination
This document discusses biotransformation and elimination of drugs in the body. It defines biotransformation as the chemical alteration of drugs in the body through Phase I and Phase II reactions. Phase I reactions such as oxidation, reduction and hydrolysis make drugs more polar for excretion, while Phase II reactions conjugate drugs to make them water soluble. The liver is the primary site of biotransformation, while excretion occurs mainly through the kidneys or in bile, breath, sweat or feces. Factors like drug properties, disease states, and drug interactions can impact the rate and pathway of biotransformation and elimination.
Pharmacology part 3
This document summarizes key aspects of drug metabolism and renal excretion. It discusses two phases of drug metabolism - phase I involves reactions like oxidation and phase II involves conjugation reactions. The liver is the main site of drug metabolism via cytochrome P450 enzymes in the smooth endoplasmic reticulum. Renal excretion depends on factors like a drug's polarity, glomerular filtration, and tubular secretion/reabsorption. First-pass metabolism may substantially reduce the amount of drug reaching systemic circulation following oral administration.
Phase 1 metabolism.pptx
Phase I drug metabolism involves introducing reactive or polar groups into drugs through specialized enzyme systems like the cytochrome P450 system. This helps determine a drug's effects, understand drug interactions, and allows for prodrug synthesis. Phase I reactions like oxidation and hydrolysis are carried out by cytochrome P450 and mixed function oxidases in the liver. Cytochrome P450 enzymes catalyze reactions like hydroxylation that can activate prodrugs or make drugs more toxic. Phase I metabolites may be excreted or undergo further Phase II conjugation reactions.
biopharma5.pptx
This document discusses drug metabolism and biotransformation. It explains that drugs are chemically altered in the body through phase I and phase II reactions to make them more water soluble and able to be excreted. The major site of drug metabolism is the liver through enzymes like cytochrome P450. Factors like genetic variations, age, and drug interactions can impact an individual's ability to metabolize drugs.
Microsomal enzyme induction
Microsomal enzymes like cytochrome P450 and UDP glucoronosyl transferases are important for drug metabolism in the liver and other tissues. Cytochrome P450 enzymes catalyze oxidation, reduction, and other phase I reactions. UDP glucoronosyl transferases catalyze phase II conjugation reactions like glucoronidation. Drug metabolism can be induced or inhibited by other drugs and environmental factors, leading to potential drug-drug interactions. A better understanding of an individual's genetic polymorphisms and environmental factors can help optimize drug therapy and avoid adverse reactions.
Biotransformation (metabolism) of drugs
Biotransformation, or metabolism, of drugs involves enzymatic reactions that make the drugs more polar so they can be more easily excreted from the body. These reactions are divided into two phases: phase I introduces functional groups through reactions like oxidation, and phase II involves conjugating these groups to endogenous compounds. Cytochrome P450 enzymes are a major catalyst of phase I reactions, introducing groups like hydroxyl that then undergo conjugation. Factors like other drugs, diet, age and liver function can influence a drug's biotransformation.
UNIT I: DRUG METABOLISM: S.Y. B. PHARMACY IV SEMESTER
This document provides an overview of drug metabolism. It discusses the phases of metabolism including phase I reactions like oxidation mediated by cytochrome P450 enzymes and phase II conjugation reactions. It describes the key cytochrome P450 enzyme families and their role in drug metabolism. First pass metabolism and factors that influence it are also summarized.
Xenobiotic metabolism
Xenobiotics are foreign compounds that are metabolized in the body. There are two phases of xenobiotic metabolism: phase 1 involves reactions like hydroxylation that make the compound more polar, while phase 2 involves conjugating it with molecules like glucuronic acid to further increase polarity and allow excretion. Cytochrome P450 enzymes play a key role in phase 1 as they hydroxylate a wide variety of xenobiotics to make them more soluble. Understanding how the body metabolizes xenobiotics is important for fields like pharmacology, toxicology, and cancer research.
Significance of drug metabolism ppt
This ppt presentation describes briefly about drug metabolism, influencing factors on drug metabolism and the purpose of drug metabolism.
Biotransfermation of drugs by harsha
1) Biotransformation, or metabolism, involves the chemical alteration of drugs in the body by enzymes to make them more water soluble and easier to eliminate. This occurs mainly in the liver.
2) Phase I metabolism involves oxidation, reduction, and hydrolysis reactions using cytochrome P450 enzymes to introduce functional groups. Phase II metabolism involves conjugation reactions like glucuronidation and sulfation to further increase water solubility.
3) Factors like age, sex, disease states, genetic variations, and drug-drug interactions can impact drug metabolism by inducing or inhibiting metabolizing enzymes. Understanding a drug's metabolism is important for efficacy, safety, and interactions.
Xenobiotics and cyt p450 by dr rajender
metabolism of xenobiotis, drugs, medicine, carcinogen generation by enzymes like cyt p450 mono oxigenases, prostaglandin synthase ect. alcohol metabolism, toxin metabolism, definition of genobiotics, biotransformation, detoxification. effects on health
Drug Metabolism.pptx
By the end of this lecture, students should:
Explain why drug metabolism is essential
Describe the phases of drug metabolism
Explain the role of cytochrome p 450 enzyme system in drug metabolism
Definition
Chemical reactions which occur in the body to change drugs from nonpolar lipid soluble forms to polar water soluble forms that are easily excreted by the kidney.
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Biotransformation_of_drug[ and contraindications of the 2].pptx
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Chapter 4 Pharmacogenetics of drug pharmacokinetic profile.pptx
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UNIT I: DRUG METABOLISM: S.Y. B. PHARMACY IV SEMESTER
UNIT I: DRUG METABOLISM: S.Y. B. PHARMACY IV SEMESTER
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Title: Sense of Taste
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
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FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
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Describe the structure and function of taste buds.
Describe the relationship between the taste threshold and taste index of common substances.
Explain the chemical basis and signal transduction of taste perception for each type of primary taste sensation.
Recognize different abnormalities of taste perception and their causes.
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Differentiation between pleasant and harmful food
Influence on behavior
Selection of food based on metabolic needs
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Taste index relationship: Inversely proportional to taste threshold
Taste Blindness:
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Example: Phenylthiocarbamide
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Composition: Epithelial cells, Sustentacular/Supporting cells, Taste cells, Basal cells
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Also present on the palate, tonsillar pillars, epiglottis, and proximal esophagus
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Interaction of taste substances with receptors on microvilli
Signal transduction pathways for Umami, Sweet, Bitter, Sour, and Salty tastes
Taste Sensitivity and Adaptation:
Decrease in sensitivity with age
Rapid adaptation of taste sensation
Role of Saliva in Taste:
Dissolution of tastants to reach receptors
Washing away the stimulus
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Mechanisms behind taste preference and aversion
Influence of receptors and neural pathways
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Degeneration of taste buds if the sensory nerve fiber is cut
Abnormalities of Taste Detection:
Conditions: Ageusia, Hypogeusia, Dysgeusia (parageusia)
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Effects of serotonin (5-HT) and norepinephrine (NE) on taste sensitivity
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Biochemical genetics 2 1-15
- 2. Learning Objectives • By the end of this lecture……….we all should be able to appreciate: – Different groups of biochemical disorders. – Features of Common biochemical disorders.
- 3. Metabolic disorders • Mostly inherited in an autosomal recessive or X- linked manner • The disorder can also manifest in the heterozygous state – If the reaction is catalyzed by an enzyme is rate limiting • Tyrosine hydroxylase catalyses the reaction in which L- tyrosine is hydroxylated to DOPA, the rate limiting step in the biosynthesis of catecholamines, alterations in the enzyme activity may be involved in disorders such as Parkinson's disease and schizophrenia. – The gene product is part of a multimcric complex.
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- 5. Sites of Enzyme Deficiencies
- 6. Enzymes Involved in Phenylalanine metabolism and deficiency states
- 7. Urea Cycle Disorders Enzyme Deficiencies • The urea cycle is a five-step metabolic pathway that takes place primarily in liver cells for the removal of waste nitrogen from the amino groups of amino acids arising from the normal turnover of protein. • It converts two molecules of ammonia and one of bicarbonate into urea. • Disorders related to urea cycle are rare. Q3. Dx and Treatment?
- 9. Enzyme Deficiencies of Carbohydrate metabolism Q4. Differences in Glycogen storage diseases
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- 14. Lysosomal Enzyme Deficiencies Enzyme Deficiencies
- 15. Lysosomal Enzyme Deficiencies Enzyme Deficiencies
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- 18. Enzyme Deficiencies Q9. Role of peroxisome? Q10. Features of Zellweger syndrome? Q11. Features of Adrenoleukodystropy?
- 20. Questions?