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Copyright ©2020 MEDINAZ ACADEMY

FIRST EDITION : 2020

All rights reserved. No part of this publication may be reproduced,


distributed, or transmitted in any form or by any means, including
photocopying, recording, or other electronic or mechanical methods,
without the prior written permission of the publisher, except in the
case of brief quotations embodied in critical reviews and certain oth-
er noncommercial uses permitted by copyright law. For permission
requests, write to the publisher, addressed “Attention: Permissions
Coordinator,” at the address below.

Notice
Medicine is an ever-changing science. As new research and clinical experience
broaden our
knowledge, changes in treatment and drug therapy are required. The authors and
the publisher of this work have checked with sources believed to be reliable in
their efforts to provide information that is complete and generally in accord with
the standards accepted at the time of publication.
However, in view of the possibility of human error or changes in medical sciences,
neither the authors nor the publisher nor any other party who has been involved
in the preparation or publication of this work warrants that the information con-
tained herein is in every respect accurate or complete, and they disclaim all re-
sponsibility for any errors or omissions or for the results obtained from use of the
information contained in this work. Readers are encouraged to confirm the infor-
mation contained herein with other sources. For example and in particular, read-
ers are advised to check the product information sheet included in the package of
each drug they plan to administer to be certain that the information contained in
this work is accurate and that changes have not been made in the
recommended dose or in the contraindications for administration. This
recomendation is of particular importance in connection with new or infrequently
used drugs.
3

DEDICATION
DEDICATED TO MY PARENTS AND MY TEACHERS
4

Editor:
Dr. Rohit Badgujar,
GDC&H,Mumbai

Headquaters
Medinaz Academy (OPC) Private Limited
House no 13, Baganati, Gopalpur
Basirhat, North 24 parganas
West Bengal, India
Pin – 743445
Email: medinazacademy@gmail.com

From the Publisher’s Desk


We request all the readers to provide us with their valuable suggestions/errors (if
any)
At: medinazacademy@gmail.com
So as to help us in further improvement of this book in the subsequent edition.
5

Preface: A New Chapter


There are two ways of retrieving memo-
ries from the mind. i.e. visual and verbal, one
is by using pictures and the other by words.
Visual learners learn most efficiently, when material is
presented in the form of diagrams, flowcharts, pictures,
demonstrations, etc. They tend to forget spoken words
and ideas. The traditional approach of many teachers and
instructors do not include so much visual aids. They
definitely would write some key words for the students;
however, the visual learners prefer visual aids i.e., pictures,
images, models, and objects and just words. This visual
memory is 10 times more effective than verbal memory.
In medical field students are obliged to memorize hundreds
of complex drug names, their interactions, side effects, dis-
ease names and their signs and symptoms, so on and so forth.
I have curated this book in an attempt to simplify such
difficult topics, make it visually attractive and error free.
My hard work pays off if you find this book helpful for your
medical career.

Dr. Nazmul Alam


6
MORE BOOKS FROM AUTHOR
7

CONTENTS
MOLECULAR BIOCHEMISTRY..........................13
Chromatin Structure 14
Heterochromatin 15
Euchromatiin 15
DNA Methylation 15
Histone Methylation 16
Histone Acetylation 16
Nucleotides 16
High Yield Points 16
High Yield Points 17
De novo Pyrimidine & Purine synthesis 18
Orotic aciduria 19
Adenosine deamine deficiency 20
Lesch_Nyhan Syndrome 20
DNA Replication 21
Points to remember 23
Mutations in DNA 24
Start and stop codons 26
High yield points 26
Types of RNA 27
Introns vs exons 27
Protein synthesis 28
Points to Remember 29
CELLULAR BIOCHEMISTRY................................30
Cell types 31
Cell cycle phases 31
Peroxisome 32
Microtubule 33
Ciliary defect 34
Cilia structure 34
Immunohistochemical stains for intermediate filaments 35
8

Collagen 35
High yield points 37
Clinical correlation 37
High yield points 38
Ehlers-Danlos syndrome 39
LABORATORYTECHNIQUE................................40
Gene expression modifications 41
Blotting techniques 41
GENETICS..................................................................42
Modes of inheritance 43
Autosomal Dominant Disorders 43
Autosomal recessive Disease 43
X-linked Recessive Disorders 44
Mitochondrial inheritance diseases 44
Chromosome 15 Diseases 45
Metabolic disorders 45
Angelman Syndrome 46
Prader Willi vs Angelman 47
Important Diseases 48
Neurofibromatosis 48
Tuberous sclerosis 48
Cystic Fibrosis 49
Duchenne Muscular Dystrophy 50
High yield points 50
Trinucleotide repeat expansion disease 51
Myotonic type 1 51
Fragile X Syndrome 52
Down Syndrome 53
Edwards Syndrome 54
PATAU Syndrome 54
DiGeorge Syndrome 56
Cri-du-chat syndrome 56
NUTRITION...............................................................57
Vitamins 58
Fat soluble vitamins 58
9

Water soluble vitamins 58


Antioxidant vitamins 59
Vitamin A 59
Vitamin D 60
Vitamin E 61
Vitamin K 61
Vitamin B-complex 62
Thiamine(B1) 62
Riboflavin(B2) 63
Niacin(B3) 64
Biotin 65
Pyridoxine(B6) 65
Pantothemic acid(B5) 65
Folic acid 66
Cobalamin(B12) 66
Vitamin C 67
Kwashiorkar 68
MArasmus 69
High yield points 69
ENZYMES...................................................................70
Enzymes kinetics: Competitive vs non-competitive inhibition 71
Metabolism Sites 71
Rate-determining enzymes of metabolic processes 72
PROCESS 72
ENZYME 72
Glycolysis 72
Phosphofructokinase-1 (PFK-1) 72
Gluconeogenesis 72
Fructose-1,6-bisphosphatase 72
TCA cycle 72
Isocitrate dehydrogenase 72
Glycogenesis 72
Glycogen synthase 72
Glycogenolysis 72
Glycogen phosphorylase 72
10

HMP shunt 72
Glucose-6-phosphate dehydrogenase (G6PD) 72
De novo pyrimidine 72
synthesis 72
Carbamoyl phosphate synthetase II 72
De novo purine 72
synthesis 72
Glutamine-phosphoribosylpyrophosphate 72
(PRPP) amidotransferase 72
Urea cycle 72
Carbamoyl phosphate synthetase I 72
Fatty acid synthesis 72
Acetyl-CoA carboxylase (ACC) 72
Fatty acid oxidation 72
Carnitine acyltransferase I 72
Ketogenesis 72
HMG-CoA synthase 72
Cholesterol synthesis 72
HMG-CoA reductase 72
Enzymes: competitive inhibitors 73
The Enzymes That Are Active In Phosphorylated State 73
CARBOHYDRATES.................................................74
Glycolysis enzymes 75
Citric acid cycle compounds 75
G Protein-coupled receptor 76
Insulin-independent glucose uptake 76
Pyruvate dehydrogenase complex 77
High yield points 77
G6PD: oxident drugs inducing hemolytic anemia 78
Pyruvate metabolism 78
Electron transport inhibitors 79
High yield points 79
AMINO ACIDS..........................................................80
Essential amino acids 81
11

Basic amino acids 82


High yield points 82
Glucogenic amino acids 83
High yield points 83
High yield points 84
Phenylketonuria: enzyme deificiency 85
Urea Cycle 85
Phenylketonuria 86
Maternal PKU 86
Homocystinuria 87
Maple syrup urine disease 88
Cystinuria 88
STORAGE DISEASES..............................................89
Glycogen storage diseases 90
Anderson vs Cori’s disease 91
Cori disease 92
Mcardle disease 92
Von-Gierke disease 92
Tay-Sachs disease 93
Niemann-Pick Disease 94
Lysosomal storage disease 94
Hurler syndrome 95
Hunter syndrome 95
LIPIDS..........................................................................96
Fatty acid metabolism 97
LDL Vs HDL 97
Specialised products of cholesterol 98
BUN:creatinine elevation causes 98
Apolipoprotein 99
Sites of oxidation of Fatty Acids....................100
Sites of metabolic pathway..............................101
Rate limiting enzymes.......................................102
12

MISCELLANEOUS................................................ 103
Carbon monoxide: electron transport chain target 104
Serum protein electrophoresis 104
BUN:creatinine elevation:causes 105
X-Linked Dominant disorders 105
Non-gap acidosis:causes 106
Anion gap causes 106
Metabolic acidosis:causes 107
Points to remember 107
CHAPTER
MOLECULAR
BIOCHEMISTRY 1
14 Back to Contents
Back to Contents 15
16 Back to Contents
Back to Contents 17
18 Back to Contents
Back to Contents 19
20 Back to Contents
Back to Contents 21
22 Back to Contents
Back to Contents 23
24 Back to Contents
Back to Contents 25
26 Back to Contents
Back to Contents 27
28 Back to Contents
Back to Contents 29
CHAPTER
CELLULAR
2 BIOCHEMISTRY
Back to Contents 31
32 Back to Contents
Back to Contents 33
34 Back to Contents
Back to Contents 35
36 Back to Contents
Back to Contents 37
38 Back to Contents
Back to Contents 39
CHAPTER
LABORATORY
3 TECHNIQUE
Back to Contents 41
CHAPTER
GENETICS
4
Back to Contents 43
44 Back to Contents
Back to Contents 45
46 Back to Contents
Back to Contents 47
48 Back to Contents
Back to Contents 49
50 Back to Contents
Back to Contents 51
52 Back to Contents
Back to Contents 53
54 Back to Contents
Back to Contents 55
56 Back to Contents
CHAPTER
NUTRITION
5
58 Back to Contents
Back to Contents 59
60 Back to Contents
Back to Contents 61
62 Back to Contents
Back to Contents 63
64 Back to Contents
Back to Contents 65
66 Back to Contents
Back to Contents 67
68 Back to Contents
Back to Contents 69
CHAPTER
ENZYMES
6
Back to Contents 71
72 Back to Contents

Rate-determining enzymes of metabolic processes


PROCESS ENZYME
Glycolysis Phosphofructokinase-1 (PFK-1)

Gluconeogen- Fructose-1,6-bisphosphatase
esis
TCA cycle Isocitrate dehydrogenase

Glycogenesis Glycogen synthase

Glycogenolysis Glycogen phosphorylase

HMP shunt Glucose-6-phosphate dehydrogenase (G6PD)

De novo pyrim- Carbamoyl phosphate synthetase II


idine
synthesis
De novo purine Glutamine-phosphoribosylpyrophosphate
synthesis (PRPP) amidotransferase

Urea cycle Carbamoyl phosphate synthetase I

Fatty acid syn- Acetyl-CoA carboxylase (ACC)


thesis

Fatty acid oxida- Carnitine acyltransferase I


tion

Ketogenesis HMG-CoA synthase

Cholesterol syn- HMG-CoA reductase


thesis
Back to Contents 73
CHAPTER
CARBOHYDRATES
7
Back to Contents 75
76 Back to Contents
Back to Contents 77
78 Back to Contents
Back to Contents 79
CHAPTER
AMINO ACIDS
8
Back to Contents 81
82 Back to Contents
Back to Contents 83
84 Back to Contents
Back to Contents 85
86 Back to Contents
Back to Contents 87
88 Back to Contents
CHAPTER
STORAGE DISEASES
9
90 Back to Contents
Back to Contents 91
92 Back to Contents
Back to Contents 93
94 Back to Contents
Back to Contents 95
CHAPTER
LIPIDS
10
Back to Contents 97
98 Back to Contents
Back to Contents 99

Apolipoprotein Function

Apo A-I Activates lecithin cholesterol acyl transferase (LCAT)

Apo A-II Inhibits lipoprotein lipase

Apo A-V Promote lipoprotein lipase mediated triacylglycerol


lipolysis

Apo B- 100 Assembly of VLDL in the liver. Act as ligand for the LDL
receptor and LDL receptor related protein (LRP-1) for
uptake of LDL

Apo B-48 Assembly of chylomicron in the intestine.

Apo C-I Inhibit cholesterol ester transfer protein (CETP)

Apo C- II Activates lipoprotein lipase

Apo C-III Inhibit lipoprotein lipase

Apo E Act as ligand of LDL receptor for uptake of chylomicron


remnant and VLDL remnant (IDL)
100 Back to Contents

Sites of oxidation of Fatty Acids

Beta oxidation of fatty acid Mitochondria

Beta oxidation of unsaturated fatty Mitochondria


acids

Beta oxidation of very long chain fatty Peroxisomes up to Octanoyl-CoA,


acid then rest in mitochondria

Alpha oxidation of fatty acid Peroxisomes, smooth endoplasmic


reticulum

Omega oxidation of fatty acid Smooth endoplasmic reticulum/ mic-


rosomes

Activation of fatty acid Cytosol


Back to Contents 101
Sites of metabolic pathway

Metabolic pathway Enzyme deficiency

TAG synthesis Smooth endoplasmic reticulum

Lenovo fatty acid synthesis (Lipogenesis) Cytoplasm

Elongation of fatty acid Smooth endoplasmic reticulum (Micro-


somes) Mitochondria (Minor)

Synthesis of unsaturated fatty acid Smooth endoplasmic reticulum

Beta oxidation of fatty acid Mitochondria

Beta oxidation of unsaturated fatty acids Mitochondria

Beta oxidation of very long chain fatty Peroxisomes up to Octanoyl-CoA, then


acid rest in mitochondria

Alpha oxidation of fatty acid Peroxisomes, smooth endoplasmic retic-


ulum

Omega oxidation of fatty acid Smooth endoplasmic reticulum/ micro-


somes

Activation of fatty acid Cytosol

Ketone body synthesis Exclusive mitochondrial

Cholesterol synthesis Cytosol and smooth endoplasmic reticu-


lum

Bile acid synthesis Smooth endoplasmic reticulum


102 Back to Contents

Rate limiting enzymes


Pathway RLE

Fatty acid synthesis Acetyl CoA carboxylase

Beta oxidation of fatty acid CAT-I or CPT-I

Ketone body synthesis HMG CoA synthase

Cholesterol synthesis HMG CoA reductase

Bile acid synthesis 7 alpha Hydroxylase


CHAPTER
MISCELLANEOUS
11
104 Back to Contents
Back to Contents 105
106 Back to Contents
Back to Contents 107
108 Back to Contents

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