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Randolph Rill, Ph.D., Course
Director
[email protected]
(850) 644-3661
Medical Biochemistry &
Genetics
BMS 6204
2005 – 2006 Course Schedule
Date
Instructor
Activity
Read1
Related2
Topic & Context
Major Concepts
LCME Step
1 Connection
Week 1
BD1; MG1;
1/3
Rill
Lecture 1
1/3
Rill
Orientation
MG2
21-2
MG2
1/4
Rill
Lecture 2
6-11
;
BD29,
RS3I,II
1/5
Rill
Lecture 3
DNA structure & stability;
Chromatin Structure; DNA
Replication
Genetic information flow; genome organization, genetic diseases:
types & impacts; cancer
Course philosophy, Present & future medicine, USMLE and NBME
expectations, Studying biochemistry; categories of genetic diseases
DNA structure & stability, Chromosome structure: nucleosome,
centromere, telomere; replication: DNA polymerase types, replisome, 1.1.1: DNA structure, stabili
proofreading
374-6
;
MG329-
BD29
Medical Genetics
Genetic information; Overview
of Genetic Diseases; Cancer: a
Disease of the Genome
Course mechanics: syllabus,
schedule, goals, importance;
Major elements of Medical
Biochem. & Genetics
Cell Biochemistry>
RS3IIC-F
33,
MG3
36-
Cell Biochemistry>
Mutation types and
mechanisms
DNA damage: UV, chemicals, radiation, spontaneous; DNA repair:
excision & SOS repair, AP nuclease; mutagens, Ames test
1.1.1: DNA damage, repair;
40
MG2
11-13; 15; 1722
1/6
Rill
Lecture 4
BD30
Cell Biochemistry>
;
RS3III
RNA polymerase, transcription factor; RNA polyadenylation, capping,
1.1.1: Gene structure, organi
Transcription: RNA Synthesis splicing; RNA stability, ribonuclease
and Processing
Week 2
MG2
1/9
Rill
Lecture 5
16,17
;
BD31
Genetic code; mRNA translation, tRNA charging, ribosome subunits; protein processing & turnover: signal se
RS3
1/9
Rill
Cell Biochemistry>
Translation: Protein
Synthesis & Processing
IV
Tutorial 1
MG2
13-15
;
Cell Biochemistry>
1/10
Stefanovi
c
V
Lecture 6
BD32
RS3 ;
8IIB; Control of Gene
MG10212 Expression
Bacterial operons: operators, repressors, activators; Mammalian response elements, enhancers, transcription fa
-13
1/11
Clark
1/12
Clark,
Team
Workshop
Workshop
Quiz 1
SGL1
Medical Informatics
Workshop (1): Health
Information, Diagnosis &
Treatment resources
Medical Informatics
Workshop (2)
Practice with Health
Information, Diagnosis &
Treatment resources; Case
1: Failed Immunity
HIV and AIDS; retrovirus: virus replication, reverse transcriptase & inhibitors, protease inhibitors; transcrip
MG2
1/13
Paull
Lecture 7
22-27
;
Cell Biochemistry>
MG6;
MG8161-
Cell cycle, mitosis & meiosis; recombination: Holliday junction, transposon; cytogenetics, abnormalities of ch
Chromosome Segregation
and Rearrangements; Clinical
Cytogenetics
3
Week 3
1/16
1/17
No Class
Paull
MLK Day
SGL2
Cytogenetics Exercise
Medical Genetics>
1/18
Rill
Lecture 8
BD39
MG11
Cell cycle, transformation; oncogenes; apoptosis; multi-factorial disease; metastasis, DNA-directed th
Cell Cycle Control, Cancer
Progression, Oncogenes, Treatment
1/18
Rill
Tutorial 2
Medical Genetics>
1/19
1/19
Rill
Rill
Lecture 9
MG4
Single gene disorders, autosomal dominant & recessive; population genetics (Hardy-Weinberg princi
Mendelian inheritance patterns of
genetic diseases
Medical Informatics Workshop (3):
NCBI, PubMed;
MMBID;
Workshop
Quiz 2
SGL 3
Case 2: Predisposed to Tumors
Oncogenes, p53, apoptosis, splicing, UV damage, DNA repair
Medical Genetics>
1/20
Rill
Date
Instructor
Lecture 10 MG5; MG12
Activity
Non-Mendelian
inheritance
Sex linkage; mitochondrial inheritance; mosaic, multifactorial Inheritance
Medical Biochemistry & Genetics
Topic
Read
Major Concepts
Week 4
MG3
1/23
Rill
Lecture 11
1/24
Team
SGL 4
42-55
;
Medical Genetics>
B3.2;
Detection of gene variants:
MG3
299 Medical applications of biotechnology
MG13
BD33
Case 3: Susceptible to Cancer;
Gene libraries, gene mapping, cytogenetics, RFLP, VNTR, PCR, SNP, m
Transcription factors, cAMP-mediated phosphorylation, CREB, gene regulators;
Case 4: Heritable Mental Retardation Mental retardation, X-linked inheritance, restriction fragment length polymorphism (RFLP), DNA m
1/24
Rill
Tutorial 3
1/25
Rill
Lecture 12
1/26
Rill
Review
1/27
Wrap-up & Perspectives: Molecular
Genetic Approaches to Cancer &
Genetic Diseases
EXAM 1
Week 5
Cell Biochemistry>
1/30
Rill
Lecture 13
BD2
5-15
Amino acid structure, categories; Protein structure, folding, stability, association, subunits
Amino acids & proteins
Blood>
1/31
Rill
Lecture 14
BD2
15-20
BD3
;
Plasma>
21-5
Plasma proteins: types, separation &
characterization
Protein fractionation, plasma composition, electrophoresis, chromatography, serum albumin; osmoti
1/31
Team
SGL 5
1/31
Rill
Tutorial 5
270-1
; Case 5: Developmental Delay &
MG596-98 Mental Retardation
MG12
Muscle structure, gene splicing, dystrophin, extracellular matrix, cytoskeleton
Blood>
BD3
2/1
Rill
Lecture 15
21-5
;
121
BD10
MG5
96-98
MG4
;
69,71 Plasma >
Transport proteins, iron transport, iron storage, copper transport, membrane transporter, Wilson and M
-2
-3
Carriers, Iron & Copper Transport &
Metabolism
2/2
Team
SGL 6
Cases 6: A Weak Heart
DNA triplet repeat expansion, glycolysis, protein structure
Quiz 3
Case 7: Dementia
protein aggregation, amyloid plaque,
b-sheet, lipoproteins
Blood>
26-30
2/3
Rill
Lecture 16
BD3
;
BD11135
MG13
287
Plasma>
Haptoglobulin & hemopexin, protease inhibitor, emphysema, acute-phase response, CRP, macrophag
Defensive proteins, Antibodies
Week 6
Blood>
2/6
Rill
Lecture 17
BD4
BD2
31-9
10-13
Respiration>
;
RS2IVA,B Erythrocytes>
Respiration, Hemoglobin & myoglobin structure, protein secondary structure, alpha-helix, sickle cell
Oxygen Transport: Myoglobin &
Hemoglobin
Blood>
2/7
Rill
Lecture 18
BD4
35-41
;
MG333-34
Respiration>
MG3
346
Allostery, effectors, altitude adaptation, methemoglobinemia, hemoglobinopathies, globin genes, thal
Erythrocytes>
Oxygen Transport Effectors, Anemias
2/7
Team
SGL 7
2/7
Rill
Tutorial 6
Case 8: Copper Transport Diseases
Copper enzymes, carriers & P-ATPase transporters
Blood>Respiration>
72-7
2/8
Rill
Lecture 19
BD7
;
BD22283
Erythrocytes>
CO2 hydration & acidity, membrane transporters, coupling of oxygen and carbon dioxide transport, B
-90
Carbon Dioxide Hydration &
Transport
2/9
Team
SGL 8
Quiz 4
Case 9: Iron-Related Disease
Redox chemistry, cytochromes, collagen crosslinking, iron transport and storage
Case 10: Failed Defenders
Plasma proteins, mannose-binding protein, ELISA, Western blot
28-10
BD
;
Blood>Respiration>
79-
2/10
Rill
Lecture 20
BD7
80
;
BD22290
RS2
II,III
Instructor
Acid-base chemistry, pKa, Henderson-Hasselbach equation, pH buffers, acidosis, alkalosis
Acid-Base Balance
-4
Date
Erythrocytes>
Activity
Read
Medical Biochemistry & Genetics
Topic
Major Concepts
Week 7
Blood & Cell Biochemistry>
2/13
Rill
Lecture 21
BD5
RS2
V
Catalysis, transition state, free energy, isozymes & isoforms, Michaelis-Menten kinetics, inhibitors,
Enzyme Kinetics
2/14
Rill
Lecture 22
2/14
Team
SGL 9
2/14
Rill
Tutorial
BD2
8-12
Blood & Cell Biochemistry>
;
RS2
BD552-3
I, III
Case 11: Oxygen Deficiency
RS8
2/15
Rill
Lecture 23
II
Team
BD6
Rill
Blood>
Plasma>
Platelets, coagulation pathways, proenzyme, cascade, fibrin, fibrinolysis, plamin, plasminogen activa
91-3
Platelet Aggregation & Coagulation
SGL 10
Case 12: Chest Pains
isozymes, creatine kinase, lactate dehydrogenase, troponin
Quiz 5
Case 13: Inappropriate Clotting
coagulation cascade, thrombin regulation, fibrinolysis
RS8
2/17
Hemoglobin oxygen binding, cooperativity, hematocrit, globin genes; Redox reactions, cytochrome b
;
MG5
2/16
Enzyme specificity, hydrolyase & other enzyme classes, acid-base catalysis, serine protease, protein
Enzyme Mechanisms
Lecture 24
II
Blood>
;
BD6
Plasma>
MG5
Fibrinolysis, hemophilia, membrane signaling, second messenger, embolism, anti-thrombolytic & 'clo
91-3
Homeostasis & Thrombosis
Week 8
2/20
Rill
Lecture 25
2/21
Team
SGL 11
2/21
Rill
Blood>Erythrocytes>Cell Membranes
Membrane bilayer, glycolipids, membrane transporters & other proteins, glycoproteins, Fluid Mosaic
& Cytoskeleton
BD7
Rill
Lecture 26
BD8
83-92
Rill
Case 15: Lung Disease
ion transporters, immunofluorescence, glycosylation, gene therapy, chaperone
Review
I
;
Cell Biochemistry>
I,IIIB;VA,B Bioenergetics,
4
2/23
Skin proteins, transsglutaminase, keratin, crosslinking, Schiff's base; Collagen classes, collagen ass
Tutorial 8
RS1
2/22
Case 14: Bad Skin
High
Energy Compounds
ATP, high energy phosphates,, free energy from oxidation, redox reactions, mitochondria, electron tr
2/24
EXAM 2
Week 9
Cell Biochemistry>
2/27
Rill
Lecture 27
BD8
92-6
RS4
VC-E
Chemiosmotic hypothesis, proton gradient, ATP-synthase, P:O ratio, respiration poisons
Oxidative Phosphorylation
RS5
I,III
;
6IIIA;
2/28
Rill
Lecture 28
GI Tract>
+
BD9
Digestive enzymes; dietary carbohydrates; bile salts, emulsions & micelles; H
7I;
/K+ pump; pa
Digestion and Transport
9IIA-E
2/28
Team
SGL 12
2/28
Rill
Tutorial 8
3/1
Rill
Lecture 29
Case 16: Yellowed Skin
BD10
115-
RS4
III
;
Team
VI
SGL 13
Quiz 6
3/3
Rill
Lecture 30
BD10
GI Tract>
RDAs; enzyme cofactors, oxidoreductase, transferase; trace minerals in enzymes
23
7
3/2
Erythrocytes, reticulocytes, bilirubin, SDS-PAGE, cytoskeleton, mRNA, Northern blot
Water Soluble Vitamins & Minerals
Case 17: Early Mental Decline
Protein processing, aggregation, Golgi, protein secondary structure
Case 18: Night Blindness
Vitamin A, visual pigments, rhodopsin, signaling, sodium channel, protein structure
GI Tract>
109-15
Vitamin A & vision, Vitamin D & bone, Vitamin E & antioxidants
Fat-Soluble Vitamins, Nutrition
NO
CLASS
3/6
Date
Instructor
SPRING BREAK: MARCH 6-10
Activity
Read
Medical Biochemistry & Genetics
Topic
Major Concepts
Week 10
Blood>
Respiration>
3/13
Rill
Lecture 31
BD11
125-
33, 137
RS5
VA-F2;
VIII
Erythrocytes>
Glycolysis, pentose phosphate pathway, ATP , anaerobic metabolism, lactic acidosis, NADH, NADP
Anaerobic Glucose
Utilization
Blood>
Respiration>
3/14
Rill
Lecture 32 BD11
133-6
BD10
114-21
Oxidation, superoxide dismutase, catalase, glutathione metabolism, reductases, hemolytic anemia, an
Erythrocytes>
Reactive Oxygen Species (ROS)
3/14
Team
SGL 14
3/14
Rill
Tutorial 9
Case 19: Vitamin Deficiency Disease B-vitamins, thiamin, decarboxylase, transketolase
Liver and Muscle>
3/15
Rill
Lecture 33
BD12
RS5
IV; VI
Glycogen synthesis, glycogenolysis; glucagon, cAMP-dependent signaling, protein kinase A (PKA),
Glycogen metabolism
3/16
Team
SGL15
Case 20: Cyanosis
Redox reactions, cytochrome b5 reductase, microcephaly
Quiz 7
Case 21: Malaria Resistance
Protozoa, RBC metabolism, glutathione reductase, flavokinase, B vitamins
Liver and Muscle>
3/17
Rill
Lecture 34 BD20
243-52
Glucose Homeostasis
via Hormones
Gluconeogenesis, glycolysis; hormone control of blood glucose via glucagon & insulin
Week 11
Liver and Muscle>
3/20
3/21
Rill
Rill
Lecture 35
Lecture 36
3/21
Team
SGL 16
3/21
Rill
Tutorial 10
BD13
BD14
RS4
RS6
Rill
Lecture 37
3/23
Team
SGL 17
BD15
Pyruvate Dehydrogenase &
Tricarboxylic Acid Cycle Regulation
Oxidative Metabolism of Fatty Acids
Case 22: Hemolytic Anemia
RBC metabolism and redox state, pentose phosphate pathway
X
IV,V
;
Pyruvate dehydrogenase (PDH), acetylCoA oxidation, dehydrogenases, reducing equivalents (NADH
−Οξιδατιον, οδδ−χηαιν & υνσατυρατεδ φαττψ αχιδσ, ενε
σ
III.B; IX; Liver and Muscle>
RS6
3/22
IV
β
Liver and Adipose>
Biosynthesis of Fatty
MG7138 Acids
Fatty acid (FA)-CoA synthase, acetylCoA carboxylase,malate shuttle, FA elongation, desaturation, tr
Case 23: Vitamin Deficiency Anemia RBC metabolism and redox state, pentose phosphate pathway; Vitamin B12 transport, folate metabol
Quiz 8
MG7
Fig7.3 Case 24: Insufficient Energy, Easy
Exhaustion
Glycolysis, glycogen metabolism, phosphofructokinase
Liver>
II, IV
3/24
Rill
Lecture 38
BD18
RS7
;
MG13280 Amino Acid
Metabolism
Amino acid synthesis; degradation: transaminases, oxidative deamination, dehydratases; carbon skele
Week 12
Liver & Muscle>
3/27
Rill
Lecture 39
3/28
Team
SGL 18
3/28
Rill
Tutorial 11
BD20
Glucose: Insulin Action
& Diabetes;
Alcoholism
Cori cycle; glucose from amino acids, lipids; insulin dependent & independent diabetes, Hb1C, metab
Case 25: Aciduria
Lipid oxidation, ketone bodies, methylmalonyl-CoA mutase
Case 26: Alcoholism
Hypoglycemia, hyperuricemia, alcohol dehydrogenase, ketoacidosis
3/29
Rill
3/30
Rill
3/31
Date
Lecture 40
BD20
Energy Metabolism Wrap-up
Eenrgy metabolism in Fed, Fasting and stressed states; comparison of adipose, brain, liver, & muscle
Review
EXAM 3
Instructor
Activity
Medical Biochemistry & Genetics
Topic
Read
Major Concepts
Week 13
4/3
Rill
Lecture 41
BD19
RS9
II.J
Muscle: Structure & Energy
Metabolism
Muscle protein functions, sarcomeres, contraction stages; ATP and creatine phosphate usage
Liver>
4/4
Rill
4/4
Team
4/4
Rill
Lecture 42
BD16
RS6
VI
SGL 19
Biosynthesis of
Cholesterol
HMG CoA reductase regulation & inhibitors, statin, mevalonate, squalene synthase, bile salts, steroid
Case 27: Diabetes Symptoms
Insulin receptors, hyperinsulinemia, hyperglycemia, insulin processing, Western blot
Tutorial 13
Liver and Vascular>
4/5
Rill
4/6
Team
4/6
Lecture 43
BD17
RS6
III.B, VII
SGL 20
Quiz 9
Lipoproteins & Lipid
Transport
Apolipoproteins A, B, C, E; chylomicrons; lipoprotein types (VLDL, LDL, HDL); Lipases
Case 28: Ambiguous Gender
steroid hormones, sex determination
Case 29: Mistaken Gender
Reproductive organ development, androgen receptors, polymerase chain reaction, Western blot
Liver and Vascular>
4/7
Rill
Lecture 44
BD17
RS9
II.K
Cholesterol Transport,
Atherogenesis
Lipoprotein receptors, synthesis, recycling; exogenous & endogenous lipids plaque & atherogenesis
Week 14
RS6
4/10
Rill
Lecture 45 BD25
321-6
X
;
Cell Biochemistry>
Complex Lipids:
MG7149 Glycerol-Conjugated
(Table7.5)
Lipids
Fatty acid & lipid nomenclature; phospholipid types, glycoproteins and GP anchors; phospholipase sp
Cell Biochemistry>
4/11
Rill
Lecture 46 BD25
327-31
Complex Lipids:
Sphingolipids, cerebrosides, gangliosides & other glycolipids; lipid storage diseases
SphingosineConjugated Lipids
4/11
Team
SGL 21
4/11
Rill
Tutorial 14
Case 30: Arteries at Risk
Cholesterol metabolism, statin, HMG-CoA reductase, lipoproteins, reporter gene
Connective Tissues>
4/12
Rill
4/13
Rill
Lecture 47 BD26
333-7
IVC
Collagen & Elastin;
Proteoglycans
Collagen classes, synthesis & assembly; elastin; crosslinking reactions;
SGL
22
Case 31: Defective Lipid Transport
apolipoproteins, chylomicrons, VLDL, LDL, HDL, Apo B-48, 100, glycosylation
Quiz 10
Case 32: Insulin Deficiency
Ion and pH balance, hypertension, bone demineralization
RS2
Liver & Kidney>
4/14
Rill
Lecture 48 BD27
249-50
RS7
III, V
;
IIL
9
Nitrogen Metabolism &
Excretion
Urea cycle, glutamine, glutamate dehydrogenase, argininosuccinate synthase, arginase; NO productio
Week 15
;
7VIIF;
RS6
4/17
Rill
Lecture 49
BD27
VIB
9IIF
4/18
Team
SGL 23
Liver>
Heme & Bile
Metabolism
Heme synthesis, bilirubin metabolism, jaundice; bile metabolism, cholesterol elimination
Case 33: Starvation
Serum albumin, protein & carbohydrate metabolism, carcinogenesis, aflatoxins, DNA damage, P450
Case 34: Lysosomal Storage Disease
Case 35: Cartilage Defects
4/18
Rill
Tutorial 15
RS7
4/19
Rill
Collagen classes, synthesis & assembly; elastin; crosslinking reactions; exon skipping
Lecture 50
BD28
VIIE
Cell Biochemistry>
MG12251 Nucleotide Metabolism
IMP, PRPP synthetase, aminotransferase; UMP; ribonucleotide reductase, thymidylate synthase, DHF
-3
4/20
Rill
Review
4/21
EXAM 4
4/24
FINAL
Week 16
1
NBME Subject Exam in Biochemistry
Reading assignment before lecture; 2Related material in other course texts.
BD = Baynes & Dominiczak, Medical Biochemistry; MG = Jorde et al., Medical Genetics;
RS = Review Series in Biochemistry
333-7
Chapters and pages or sections are indicated; for example, BD26
chapter 26, pages 333-337.
refers to Baynes and Dominiczak,
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