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CHAPTER 4:
CELLULAR
METABOLISM
BIO 137
HUMAN ANATOMY AND
PHYSIOLOGY I
MARY CATHERINE FLATH, Ph.D.
CHAPTER 4 TOPICS
DIVISIONS OF METABOLISM
 ENZYMES
 ATP
 CELLULAR RESPIRATION
 DNA REPLICATION
 PROTEIN SYNTHESIS
 MUTATIONS

Copyright 2016 Dr. Mary Cat Flath
Cellular Metabolism
Metabolism is the sum of all chemical reactions that
occur in the body
▪ Each reaction is catalyzed by a specific
enzyme
▪ The reactions typically occur in pathways
▪ Two types of metabolic reactions
Catabolism
• large macromolecules
(polymers) are broken
down
• releases energy
Copyright 2016 Dr. Mary Cat Flath
Anabolism
• large
macromolecules
(polymers) are
made
• requires energy
4-2
Catabolism
Catabolism breaks polymers into smaller monomers.
Catabolism involves destructive, digestive reactions.
Energy is released when bonds between monomers are
broken (i.e. Exergonic)
Water is used to break bonds: Hydrolysis
Examples include (follow arrows to left):
▪ Breaking a protein into amino acids
▪ Breaking DNA into nucleotides
Copyright 2016 Dr. Mary Cat Flath
4-5
Catabolism (follow arrows to left)
Copyright 2016 Dr. Mary Cat Flath
4-6
Anabolism
Anabolism is the building of polymers from monomers.
Anabolism involves constructive, synthesis reactions.
Anabolism requires cellular energy to build bonds between
monomers (Endergonic).
Bonds are built through Dehydration Synthesis
Examples (follow arrows to right):
▪ building a triglyceride from glycerol and fatty acids
▪ building glycogen from glucose molecules
Copyright 2016 Dr. Mary Cat Flath
4-3
Anabolism (follow arrows to right)
Copyright 2016 Dr. Mary Cat Flath
4-4
METABOLISM



Define the term METABOLISM
Name the two major divisions of metabolism
For each division of metabolism:
 Write a descriptive sentence
 Name two synonyms for the process
 Explain whether bonds are being made or broken
 Explain how energy is involved – name that term
 Explain how water is involved – name that term
 Write a simple equation illustrating the process
 Name an example in human metabolism
Copyright 2016 Dr. Mary Cat Flath
METABOLISM

Metabolism is the sum of all chemical
reactions that occur within an organism

Two major divisions are

Building reactions – anabolism

Breakdown reactions - catabolism
Copyright 2016 Dr. Mary Cat Flath
DIVISIONS OF METABOLISM
Division
Descriptive sentence
Descriptive terms
Bond formation or
breaking?
Energy required or
released? Term?
Water required or
released? Term?
Equation
Example
Copyright 2016 Dr. Mary Cat Flath
Divisions of Metabolism
CATABOLISM








ANABOLISM

Polymers are broken
down into monomers
Destructive, digestive
Bonds are broken
Energy is released;
exergonic
Water is required;
hydrolysis
CD  C + D

Proteins > amino acids;
Glycogen > glucoses; Nucleic
acids > nucleotides






Monomers are built into
polymers
Constructive, synthesis
Bonds are formed
Energy is required;
endergonic
Water is removed;
dehydration (synthesis)
A + B  AB
Amino acids > protein;
glucoses > glycogen; glycerol
+ fatty acids > triglyceride
Copyright 2016 Dr. Mary Cat Flath
Control of Metabolic Reactions:
Enzyme Action
Enzymes are biological, protein catalysts that increase the rate of
a chemical reaction without being consumed by the reaction.
• (They lower activation energy needed to start reactions).
• Enzymes are globular proteins with specific shapes
• Enzymes
are specific for their substrate (i.e. the substance
•
they act upon)
• The enzyme’s active site fits with the substrate like a lock & key
Copyright 2016 Dr. Mary Cat Flath
4-7
Enzyme-Substrate Mechanism
e
d
f
Copyright 2016 Dr. Mary Cat Flath
Enzyme-Substrate Mechanism
SUBSTRATE
e END-PRODUCTS
ACTIVE SITE
ENZYME
ENZYME-SUBSTRATE
d COMPLEX
f Unaltered ENZYME
Copyright 2016 Dr. Mary Cat Flath
Enzyme Substrate Interaction
Copyright 2016 Dr. Mary Cat Flath
Control of Metabolic Reactions:
Enzyme Action
The active site on the enzyme may not be exposed and a cofactor
or coenzyme may be required.
Cofactors are ions of metals (Fe++, Cu++, Zn++)
Coenzymes are vitamins (primarily B vitamins)
Copyright 2016 Dr. Mary Cat Flath
4-7
Control of Metabolic Reactions:
Enzyme Action
Enzyme names are often derived from the substrate they act on
▪ The root of the enzyme name comes from the substrate
▪ The enzyme name typically ends in the suffix –ase
▪ Examples include:
The enzyme lactase that breaks down the substrate lactose
The enzyme lipase that breaks down a (substrate) lipid.
The enzyme DNA Polymerase is used to build DNA from
nucleotide substrates.
▪ Enzymes are unchanged by the reaction they catalyze and are
recycled.
▪ Enzymes can be denatured in extreme conditions.
▪ Metabolic pathways involve several reactions in a row, each
requiring a different, specific enzyme.
Copyright 2016 Dr. Mary Cat Flath
4-7
Control of Metabolic Reactions
Metabolic pathways
• series of enzyme-controlled reactions
leading to formation of a product
• each new substrate is the product of the
previous reaction
Copyright 2016 Dr. Mary Cat Flath
4-8
Energy for Metabolic Reactions
Energy
• Energy is the ability to do work or change
something.
• Common forms include heat, light, sound,
electricity, mechanical energy, chemical energy
• Energy cannot be created or destroyed, but it
changes from one form to another.
• All metabolic reactions involve some form of
energy.
Copyright 2016 Dr. Mary Cat Flath
4-10
Energy for Metabolic Reactions

Release of chemical energy



Most metabolic processes depend on chemical
energy
Energy is held within the covalent bonds
between atoms (as potential energy).
 When the bond breaks, free (kinetic) energy is
released.
Cellular respiration releases chemical energy from
nutrients and makes it available for cellular use.
Copyright 2016 Dr. Mary Cat Flath
ATP Molecules
• each ATP molecule has three parts
• an adenine molecule
• a ribose molecule
• three phosphate molecules in a chain
• third phosphate attached by high-energy bond
• when the bond is broken, energy is transferred
• when the bond is broken, ATP becomes ADP,
•but ADP can be recycled back to ATP, if a phosphate is
added back to ADP during catabolic reactions
Copyright 2016 Dr. Mary Cat Flath
4-12
Copyright 2016 Dr. Mary Cat Flath
Copyright 2016 Dr. Mary Cat Flath
CELLULAR RESPIRATION (CR)


Cellular respiration is the way in which animal
cells use oxygen to release energy (ATP) from
nutrients
CR reactions occur in two major series of
reactions (with each requiring a specific
enzyme):

Anaerobic Steps do not require oxygen



Occur in cytoplasm
Glycolysis
Aerobic steps do require oxygen
 Occur in mitochondrion
 (Krebs cycle (citric acid cycle) and Electron
transport chain [ETC])
Copyright 2016 Dr. Mary Cat Flath
OVERVIEW OF
CELLULAR RESPIRATION
Copyright 2016 Dr. Mary Cat Flath
COENZYMES REQUIRED FOR
CELLUAR REPSIRATION
NADH (NIACIN)
 FADH2 (RIBOFLAVIN)

Copyright 2016 Dr. Mary Cat Flath
For each major series of reactions in
Cellular Respiration, you should be able
to:




State whether the reactions are aerobic
or anaerobic
Locate the reactions in the cell
Name starting products
Name end products
 Including ATP
Copyright 2016 Dr. Mary Cat Flath
CELLULAR
RESPIRATION
ANAEROBIC
REACTIONS
Is oxygen required?
Where do the
reactions occur in
the cell?
Starting Products?
End-Products?
Copyright 2016 Dr. Mary Cat Flath
AEROBIC
REACTIONS
CELLULAR
RESPIRATION
ANAEROBIC
REACTIONS
AEROBIC
REACTIONS
Is oxygen required?
NO
YES
Where do the
reactions occur in
the cell?
CYTOPLASM
MITOCHONDRION
Starting Products?
GLUCOSE
TWO PYRUVIC
ACIDS
End-Products?
TWO PYRUVIC
ACIDS
2 ATP
36 ATP
Copyright 2016 Dr. Mary Cat Flath
WATER
CO2
ANAEROBIC GLYCOLYSIS:
(FERMENTATION)

If oxygen is not available, pyruvic
acid is fermented under anaerobic
conditions:
 In animals, pyruvic acid is
converted to lactic acid
 Accumulates and causes
muscle fatigue and soreness
Copyright 2016 Dr. Mary Cat Flath
ANAEROBIC GLYCOLYSIS:
(FERMENTATION)
Copyright 2016 Dr. Mary Cat Flath
CELLULAR RESPIRATION
is the process by which animal cells use oxygen to release energy from nutrients.
Anaerobic Steps
(in cytoplasm)
Aerobic Steps
(in mitochondrion)
OXYGEN
Glucose  2 Pyruvic Acids H2O + CO2
Glycolysis
(Citric Acid Cycle
(6C)
(2 x 3C) + 2 ATPElectron
+ 36 ATP
Transport Chain)
Fermentation
Lactic Acid
Copyright 2016 Dr. Mary Cat Flath
Regulation of Metabolic Pathways
• limited number of regulatory enzymes
• negative feedback whereby the end-product comes
back and inhibits the first enzyme in the
pathway
Copyright 2016 Dr. Mary Cat Flath
4-23
NUCLEIC ACIDS AND
PROTEIN SYNTHESIS
NUCLEIC ACIDS AND
PROTEIN SYNTHESIS


ENZYMES ARE PROTEINS THAT
REGULATE METABOLIC REACTIONS
CELLS MUST HAVE THE INFORMATION
FOR MAKING THESE SPECIAL PROTEINS

THAT INFORMATION IS CARRIED IN THE DNA
IN OUR CELLS


INFORMATION IS CARRIED BY GENES ON OUR
CHROMOSOMES
DNA DIRECTS PROTEIN SYNTHESIS

RNA ASSISTS DNA IN THAT EFFORT
Copyright 2016 Dr. Mary Cat Flath
GENETIC INFORMATION




DNA HOLDS THE GENETIC INFORMATION WHICH IS
INHERITED FROM PARENTS TO OFFSPRING
 DNA IS LOCATED IN NUCLEUS
DNA INSTRUCTS CELLS IN THE CONSTRUCTION OF
PROTEINS
 PROTEINS ARE SYNTHESIZED AT RIBOSOMES
(RER OR IN CYTOPLASM)
THE PORTION OF A DNA MOLECULE THAT CODES
FOR ONE PARTICULAR PROTEIN IS CALLED A
GENE
ALL OF THE DNA IN A CELL CONSTITUTES ITS
GENOME

HUMAN GENOME PROJECT
Copyright 2016 Dr. Mary Cat Flath
Copyright 2016 Dr. Mary Cat Flath
HOW DOES DNA WHICH IS
CONFINED TO THE NUCLEUS,
DIRECT PROTEIN SYNTHESIS AT
RIBOSOMES?
WITH THE HELP OF RNA
NUCLEIC ACID
STRUCTURE
DEOXYRIBONUCLEIC ACID (DNA)
RIBONUCLEIC ACID (RNA)
DEOXYRIBONUCLEIC
ACID
DNA
DNA STRUCTURE


DNA IS COMPOSED
OF NUCLEOTIDES
EACH NUCLEOTIDE
IS COMPOSED OF:



SUGAR DEOXYRIBOSE
PHOSPHATE GROUP
NITROGEN BASE

PURINE



ADENINE (A)
GUANINE (G)
D
PYRIMIDINE


CYTOSINE (C)
THYMINE (T)
Copyright 2016 Dr. Mary Cat Flath
DNA STRUCTURE


EACH DNA STRAND
IS COMPOSED OF
ALTERNATING
DEOXYRIBOSE
SUGARS AND
PHOSPHATES
EACH DEOXYRIBOSE
SUGAR IS LINKED TO
ONE OF FOUR
BASES
Copyright 2016 Dr. Mary Cat Flath
DNA STRUCTURE


EACH DNA MOLECULE
CONSISTS OF TWO
STRANDS OF
NUCLEOTIDES
STRANDS ARE HELD
TOGETHER BY
HYDROGEN BONDS
BETWEEN
COMPLEMENTARY
BASES
 A::T (2 H-bonds)
 G:::C (3 H-bonds)
Copyright 2016 Dr. Mary Cat Flath
Copyright 2016 Dr. Mary Cat Flath
DNA STRUCTURE

THE DNA
MOLECULE IS
TWISTED INTO A
DOUBLE HELIX
Copyright 2016 Dr. Mary Cat Flath
Copyright 2016 Dr. Mary Cat Flath
Copyright 2016 Dr. Mary Cat Flath
Copyright 2016 Dr. Mary Cat Flath
SEM of chromosomes prior to cell
division
Copyright 2016 Dr. Mary Cat Flath
DNA REPLICATION
DNA Replication: Occurs in the nucleus
during interphase of cell cycle
• DNA unwinds and hydrogen
bonds break between
complementary bases pairs
• DNA polymerase positions
DNA nucleotides with
exposed bases and
backbones of strands are
formed
• two identical DNA molecules
result
•Semi-conservative
replication
Copyright 2016 Dr. Mary Cat Flath
4-30
RIBONUCLEIC ACID
RNA
RNA STRUCTURE

RNA IS COMPOSED
OF NUCLEOTIDES
 SUGAR IS RIBOSE
 BASES:



A, URACIL (U)
C, G
R
PHOSPHATE
GROUP
Copyright 2016 Dr. Mary Cat Flath
RNA STRUCTURE



EACH RNA STRAND
IS COMPOSED OF A
BACKBONE OF
ALTERNATING
RIBOSE SUGARS
AND PHOSPHATES
EACH RIBOSE IS
BONDED TO A BASE
RNA IN SINGLE
STRANDED
Copyright 2016 Dr. Mary Cat Flath
TYPES OF RNA

MESSENGER RNA (mRNA)


TRANSFER RNA (tRNA)


Carries code for protein to be synthesized
from nucleus to ribosome
Carries appropriate amino acid to ribosome to
be incorporated into protein
RIBOSOMAL RNA (rRNA)

The RNA component of the ribosome (recall
that a ribosome is composed of RNA plus
protein)
Copyright 2016 Dr. Mary Cat Flath
DNA AND RNA COMPARISON
DNA
PENTOSE
SUGAR
BASES
STRUCTURE
Copyright 2016 Dr. Mary Cat Flath
RNA
DNA AND RNA COMPARISON
DNA
RNA
PENTOSE
SUGAR
DEOXYRIBOSE
RIBOSE
BASES
A, T, G, C
A, U, G, C
STRUCTURE
DOUBLE
STRANDED
SINGLE
STRANDED
Copyright 2016 Dr. Mary Cat Flath
PROTEIN SYNTHESIS
Protein Synthesis
Copyright 2016 Dr. Mary Cat Flath
4-28
For each step in Protein Synthesis, you
should be able to:




Name the step
Give the location of the step in the cell
Name molecules involved in the
process
Name the overall result of each step
Copyright 2016 Dr. Mary Cat Flath
PROTEIN SYNTHESIS
Copyright 2016 Dr. Mary Cat Flath
PROTEIN SYNTHESIS
TRANSCRIPTION
TRANSLATION
(in nucleus)
(at ribosome)
GENE  MESSENGER  PROTEIN
Transfer RNA
(DNA) RNA Polymerase
RNA
brings amino acids
Copyright 2016 Dr. Mary Cat Flath
PROTEIN SYNTHESIS:
TWO MAJOR STEPS


TRANSCRIPTION
 OCCURS IN NUCLEUS
 RNA POLYMERASE ALLOWS FOR THE MAKING OF
A STRAND OF MESSENGER RNA
 mRNA IS COMPLEMENTARY TO THE DNA GENE (and
now carries code for protein to be synthesized)
TRANSLATION
 OCCURS AT RIBOSOME
 TRANSFER RNA BRINGS AMINO ACIDS TO
RIBOSOME
 mRNA IS TRANSLATED INTO A PROTEIN
Copyright 2016 Dr. Mary Cat Flath
TRANSCRIPTION




OCCURS IN NUCLEUS
DNA UNWINDS AND UNZIPS (HYDROGEN BONDS
ARE BROKEN)
RNA POLYMERASE POSITIONS RNA
NUCLEOTIDES ALONG THE GENE AND BONDS
BACKBONE TOGETHER FORMING A STRAND OF
MESSENGER RNA
mRNA IS COMPLEMENTARY TO THE DNA GENE
(and now carries code for protein to be
synthesized)



IF GENE IS:
THEN mRNA is:
TACGATTGCCAA
AUGCUAACGGUU
THE mRNA IS READ IN THREE BASE CODONS

AUG CUA
ACG
GUU
Copyright 2016 Dr. Mary Cat Flath
Figure 04.22
Hydrogen bonds
Copyright 2016 Dr. Mary Cat Flath
TRANSLATION


mRNA IS TRANSLATED INTO A PROTEIN
OCCURS AT RIBOSOMES




TRANSFER RNA BRINGS AMINO ACIDS TO
RIBOSOME
 tRNA HAS ANTICODON WHICH IS
COMPLEMENTARY TO mRNA codon
 IF mRNA CODON IS AUG, THEN tRNA ANTICODON
IS UAC
TWO CODONS ARE READ IN RIBOSOME AT A TIME



FREE IN CYTOPLASM
ON ROUGH ENDOPLASMIC RETICULUM
PEPTIDE BOND IS FORMED BETWEEN TWO AMINO ACIDS
RIBOSOME MOVES AND POSITIONS NEXT CODON
CODONS ARE READ UNTIL STOP CODON IS
REACHED
Copyright 2016 Dr. Mary Cat Flath
Protein Synthesis Overview: 2 steps
Name step
Locate step in the cell
Name molecules involved
in process
Name overall result of each
step
Copyright 2016 Dr. Mary Cat Flath
Protein Synthesis Overview: 2 steps
Name step
TRANSCRIPTION
TRANSLATION
Locate step in the cell
NUCLEUS
RIBOSOME (free
or on RER
Name molecules involved
in process
DNA is copied into
strand of messenger
RNA (mRNA), which is
complementary to DNA
code (gene).
Name overall result of each
step
A STRAND OF
Copyright 2016 Dr. Mary Cat Flath
mRNA
mRNA is translated
into a protein.
transfer RNAs bring
appropriate amino
acids to ribosome to
be incorporated into
mRNA is constructed by protein
enzyme, RNA
polymerase, using RNA
nucleotides in nucleus
A PROTEIN
PROTEIN SYNTHESIS
TRANSCRIPTION
TRANSLATION
(in nucleus)
(at ribosome)
GENE  MESSENGER  PROTEIN
Transfer RNA
(DNA) RNA Polymerase
RNA
brings amino acids
Copyright 2016 Dr. Mary Cat Flath
Copyright 2016 Dr. Mary Cat Flath
Protein Synthesis
Copyright 2016 Dr. Mary Cat Flath
4-28
Copyright 2016 Dr. Mary Cat Flath
PROTEIN SYNTHESIS WORKSHEET
GENE
mRNA
AMINO ACIDS
(PROTEIN)
T
A
C
T
T
G
C
A
A
T
C
G
A
T
T
Copyright 2016 Dr. Mary Cat Flath
tRNA anticodon
SEQUENCE
PROTEIN SYNTHESIS WORKSHEET
GENE
mRNA
AMINO ACIDS
(PROTEIN)
T
A
C
A
U
G
T
T
G
A
A
C
C
A
A
G
U
U
T
C
G
A
G
C
A
T
T
U
A
A Copyright 2016 Dr. Mary Cat Flath
tRNA anticodon
SEQUENCE
Copyright 2016 Dr. Mary Cat Flath
PROTEIN SYNTHESIS WORKSHEET
GENE
mRNA
AMINO ACIDS
(PROTEIN)
T
A
C
A
U
G
MET (METHIONINE)
START
T
T
G
A
A
C
C
A
A
G
U
U
T
C
G
A
G
C
A
T
T
U
A
A Copyright 2016 Dr. Mary Cat Flath
tRNA anticodon
SEQUENCE
Copyright 2016 Dr. Mary Cat Flath
PROTEIN SYNTHESIS WORKSHEET
GENE
mRNA
AMINO ACIDS
(PROTEIN)
T
A
C
A
U
G
MET (METHIONINE)
START
T
T
G
A
A
C
ASN (ASPARGINE)
C
A
A
G
U
U
T
C
G
A
G
C
A
T
T
U
A
A Copyright 2016 Dr. Mary Cat Flath
tRNA anticodon
SEQUENCE
Copyright 2016 Dr. Mary Cat Flath
PROTEIN SYNTHESIS WORKSHEET
GENE
mRNA
AMINO ACIDS
(PROTEIN)
T
A
C
A
U
G
MET (METHIONINE)
START
T
T
G
A
A
C
ASN (ASPARGINE)
C
A
A
G
U
U
VAL (VALINE)
T
C
G
A
G
C
A
T
T
U
A
A Copyright 2016 Dr. Mary Cat Flath
tRNA anticodon
SEQUENCE
Copyright 2016 Dr. Mary Cat Flath
PROTEIN SYNTHESIS WORKSHEET
GENE
mRNA
AMINO ACIDS
(PROTEIN)
T
A
C
A
U
G
MET (METHIONINE)
START
T
T
G
A
A
C
ASN (ASPARGINE)
C
A
A
G
U
U
VAL (VALINE)
T
C
G
A
G
C
SER (SERINE)
A
T
T
U
A
A Copyright 2016 Dr. Mary Cat Flath
tRNA anticodon
SEQUENCE
Copyright 2016 Dr. Mary Cat Flath
PROTEIN SYNTHESIS WORKSHEET
GENE
mRNA
AMINO ACIDS
(PROTEIN)
T
A
C
A
U
G
MET (METHIONINE)
START
T
T
G
A
A
C
ASN (ASPARGINE)
C
A
A
G
U
U
VAL (VALINE)
T
C
G
A
G
C
SER (SERINE)
A
T
T
U
STOP
A
A Copyright 2016 Dr. Mary Cat Flath
tRNA anticodon
SEQUENCE
PROTEIN SYNTHESIS WORKSHEET
GENE
mRNA
AMINO ACIDS
(PROTEIN)
tRNA anticodon
SEQUENCE
T
A
C
A
U
G
MET (METHIONINE)
START
U
A
C
T
T
G
A
A
C
ASN (ASPARGINE)
U
U
G
C
A
A
G
U
U
VAL (VALINE)
C
A
A
T
C
G
A
G
C
SER (SERINE)
U
C
G
A
T
T
U
STOP
A
A Copyright 2016 Dr. Mary Cat Flath
A
U
U
Protein Synthesis Overview: 2 steps
Name step
Locate step in the cell
Name molecules involved
in process
Name overall result of each
step
Copyright 2016 Dr. Mary Cat Flath
Protein Synthesis Overview: 2 steps
Name step
TRANSCRIPTION
TRANSLATION
Locate step in the cell
NUCLEUS
RIBOSOME (free
or on RER
Name molecules involved
in process
DNA is copied into
strand of messenger
RNA (mRNA), which is
complementary to DNA
code (gene).
Name overall result of each
step
A STRAND OF
Copyright 2016 Dr. Mary Cat Flath
mRNA
mRNA is translated
into a protein.
transfer RNAs bring
appropriate amino
acids to ribosome to
be incorporated into
mRNA is constructed by protein
enzyme, RNA
polymerase, using RNA
nucleotides in nucleus
A PROTEIN
PROTEIN SYNTHESIS
TRANSCRIPTION
TRANSLATION
(in nucleus)
(at ribosome)
GENE  MESSENGER  PROTEIN
Transfer RNA
(DNA) RNA Polymerase
RNA
brings amino acids
Copyright 2016 Dr. Mary Cat Flath
MUTATIONS



CAUSED BY ERROR IN DNA CODE
(GENE)
ARE CAUSED BY A VARIETY OF
SOURCES
MUTATIONS IN GENES, CAUSE THE ENDPRODUCT, THE PROTEIN TO BE
ALTERED OR ABSENT



AN ENZYME MAY NOT BE MADE AT ALL
A PROTEIN MAY HAVE ALTERED FUNCTION
A PROTEIN MAY BE MADE IN EXCESS
Copyright 2016 Dr. Mary Cat Flath
Table 04.04
Copyright 2016 Dr. Mary Cat Flath
MUTATIONS IN GENES CAUSE THE ENDPRODUCT, PROTEIN TO BE ALTERED OR
ABSENT
AN ENZYME MAY NOT BE MADE AT ALL
CHILDHOOD STORAGE DISEASES

PKU
A PROTEIN MAY HAVE ALTERED FUNCTION
ALTERED CHLORIDE PUMP IN CYSTIC
FIBROSIS
ALTERED HEMOGLOBIN IN SICKLE CELL
ANEMIA
A PROTEIN MAY BE MADE IN EXCESS.
EXCESS GABA AND EPINEPHRINE IN EPILEPSY
Copyright 2016 Dr. Mary Cat Flath
Copyright 2016 Dr. Mary Cat Flath
Copyright 2016 Dr. Mary Cat Flath
Clinical Application
Phenylketonuria
PKU
• enzyme
that breaks down the amino
acid phenylalanine is missing
• build up of phenylalanine causes
mental retardation
• treated by diets very low in
phenylalanine
Copyright 2016 Dr. Mary Cat Flath
4-32
Copyright 2016 Dr. Mary Cat Flath
Copyright 2016 Dr. Mary Cat Flath
A genetic order albinism, results in
lack of melanin in skin, hair, and irises
Copyright 2016 Dr. Mary Cat Flath
Copyright 2016 Dr. Mary Cat Flath
Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
Fig. 4.26
STARTING MATERIALS
Enzyme #1
INTERMEDIATE #1
Enzyme #2
ALA dehydratase deficiency
Enzyme #3
acute intermittent porphyria
Enzyme #4
congenital erythropoietic
porphyria
INTERMEDIATE #2
INTERMEDIATE #3
INTERMEDIATE #4
Enzyme #5
porphyria cutanea tarda
INTERMEDIATE #5
Enzyme #6
coproporphyria
Enzyme #7
porphyria variegata
Enzyme #8
erythropoietic protoporphyria
INTERMEDIATE #6
INTERMEDIATE #7
HEME
Copyright
2016 Dr. Mary Cat Flath
MUTATIONS IN GENES CAUSE THE ENDPRODUCT, PROTEIN TO BE ALTERED OR
ABSENT
AN ENZYME MAY NOT BE MADE AT ALL
CHILDHOOD STORAGE DISEASES

PKU
A PROTEIN MAY HAVE ALTERED FUNCTION
ALTERED CHLORIDE PUMP IN CYSTIC
FIBROSIS
ALTERED HEMOGLOBIN IN SICKLE CELL
ANEMIA
A PROTEIN MAY BE MADE IN EXCESS.
EXCESS GABA AND EPINEPHRINE IN EPILEPSY
Copyright 2016 Dr. Mary Cat Flath
Copyright 2016 Dr. Mary Cat Flath
Copyright 2016 Dr. Mary Cat Flath
Copyright 2016 Dr. Mary Cat Flath
Copyright 2016 Dr. Mary Cat Flath
Normal versus sickled erythrocyte
Copyright 2016 Dr. Mary Cat Flath
MUTATIONS IN GENES CAUSE THE ENDPRODUCT, PROTEIN TO BE ALTERED OR
ABSENT
AN ENZYME MAY NOT BE MADE AT ALL
CHILDHOOD STORAGE DISEASES

PKU
A PROTEIN MAY HAVE ALTERED FUNCTION
ALTERED CHLORIDE PUMP IN CYSTIC
FIBROSIS
ALTERED HEMOGLOBIN IN SICKLE CELL
ANEMIA
A PROTEIN MAY BE MADE IN EXCESS.
EXCESS GABA AND EPINEPHRINE IN EPILEPSY
Copyright 2016 Dr. Mary Cat Flath
CHAPTER 4 TOPICS

DIVISIONS OF METABOLISM




ENZYMES
ATP
CELLULAR RESPIRATION



Anaerobic reactions vs. Aerobic reactions
DNA REPLICATION
PROTEIN SYNTHESIS


Catabolism and Anabolism
Transcription vs. Translation
MUTATIONS
Copyright 2016 Dr. Mary Cat Flath