Substrate utilized by muscle during starvation (1-3 days)?
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Ketone Bodies
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Substrate utilized by muscle during starvation (1-3 days)?
Ketone Bodies
Substrate utilized by adipose tissue during fasting (12-18 hours)?
Fatty Acids
Substrate utilized by brain during starvation (1-3 days)?
Ketone Bodies
Substrate utilized by RBC during fasting (12-18 hours)?
Glucose
Substrate utilized by heart during starvation (1-3 days)?
Ketone Bodies
First ketone body to form?
Acetoacetate
Main ketone body produced?
B-Hydroxy Butyrate
Ketone body with fruity odour?
Acetone
Enzyme common to both ketone body synthesis and breakdown?
Thiolase
Enzyme absent in the liver that affects ketone body utilization?
Thiophorase
What type of transport is SGLT?
Secondary Active Transport
Where is SGLT-1 located?
Intestine
Where is SGLT-2 located?
Kidneys
What inhibits SGLT-2?
GLIFOZINS
What is the primary active transport mechanism involved in glucose transport?
Na+- K+ ATPase Pump
What is the function of GLUT-1?
Basal uptake of glucose, high affinity
Where is GLUT-2 located?
Liver, pancreatic cell, small intestine
What is the function of GLUT-3?
Glucose uptake, maximum affinity for glucose
What is the function of GLUT-4?
Insulin-stimulated glucose uptake
Where is GLUT-5 located?
Small intestine, sperms
What type of diffusion does GLUT represent?
Facilitated diffusion
What is the metabolic state associated with fed insulin?
ANABOLIC
What is the Km and affinity of Glucokinase?
High Km (low affinity)
What is the Km and affinity of Hexokinase?
Low Km (high affinity)
Which state activates Glucokinase?
Fed state (insulin-activated)
Which tissues express Hexokinase?
All tissues
What is the protein content characteristic of chylomicrons?
Min protein
What is the mobility classification of chylomicrons?
Negative
What is the mobility classification of HDL?
Positive
Type I hyperlipoproteinemia inheritance pattern?
AR
Pathogenesis of Type I hyperlipoproteinemia?
Lipoprotein lipase or ApoC-II deficiency
Blood lipid levels in Type I hyperlipoproteinemia?
Chylomicrons, TG, cholesterol
Clinical manifestations of Type I hyperlipoproteinemia?
Pancreatitis, eruptive/pruritic xanthomas
Type II hyperlipoproteinemia inheritance pattern?
AD
Pathogenesis of Type II hyperlipoproteinemia?
Absent LDL receptors, or ApoB-100
Blood lipid levels in Type II hyperlipoproteinemia?
IIa: LDL, cholesterol
Clinical manifestations of Type II hyperlipoproteinemia?
Accelerated atherosclerosis, tendon (Achilles) xanthomas, and corneal arcus.
Type III hyperlipoproteinemia inheritance pattern?
AR
Pathogenesis of Type III hyperlipoproteinemia?
Defective ApoE
What is the absolute contraindication for breastfeeding in Galactose metabolism disorders?
Galactosemia
What enzyme converts Galactose to Galactitol?
Aldose reductase
What ocular condition is caused by Galactitol accumulation?
Oil Droplet Cataract
What is the hepatotoxic effect of Galactose-1-P?
Can cause E. coli Sepsis
Basic amino acids?
Arginine, Lysine, Histidine
Acidic amino acids?
Glutamate, Aspartate
Imino acid?
Proline
OH containing amino acids?
Tyrosine, Serine, Threonine
Branched chain amino acids?
Valine, Isoleucine, Leucine
Sulphur containing amino acids?
Methionine, Cysteine
Ketogenic only amino acids?
Leucine, Lysine
21st and 22nd amino acids?
Selenocysteine, Pyrollysine
Aromatic amino acid with UV light maximum?
Tryptophan
Universal methyl donor?
S-Adenosyl Methionine
Semi-essential amino acids?
Histidine, Arginine
Components of creatine?
Glycine, Arginine, Methionine
Components of glutathione?
Glycine, Cysteine, Glutamate
Components of carnitine?
Lysine, Methionine
Valproate antidote?
Serine
Purines?
Glycine
Components of heme?
Glycine
Collagen major component?
Glycine (every 3rd)
EDRF that increases cGMP?
Nitric Oxide (NO) from Arginine
GABA precursor?
Glutamate (via Vitamin B6)
Tyrosine derivatives?
Thyroxine, Dopamine, Catecholamines, Melanin
Tryptophan derivatives?
Niacin, Melatonin, Serotonin
Histamine precursor?
Histidine
What is the enzyme deficient in Phenylketonuria (PKU)?
Phenylalanine hydroxylase
What is the urine odor associated with Maple Syrup Urine Disease (MSUD)?
Burnt sugar
Type III collagen locations?
Reticulin, blood vessels, uterus, fetal tissue, early wound
Type III collagen deficiency condition?
Vascular Ehler-Danlos Syndrome
Type IV collagen locations?
Basement membrane (glomerulus), cochlea, lens
Type IV collagen deficiency condition?
Alport's Syndrome
Wound repair progression type?
Type III -> Type I
Highest thermic effect macronutrient?
Protein
Respiratory quotient for carbohydrates?
1
Metal associated with carbonic anhydrase?
Zinc
Metal associated with tyrosinase?
Copper
Metal associated with glutathione peroxidase?
Selenium
Deficiency condition associated with selenium?
Keshan's Disease
Metal associated with xanthine oxidase?
Molybdenum
Cofactor used by all kinases except pyruvate kinase-K?
Magnesium
Fructosamine lifespan?
2-3 weeks
Best method for measuring HBA1C?
Ion-exchange chromatography
What should be avoided in fish odour syndrome?
Choline
Most abundant GAG?
Chondroitin Sulfate
GAG with no protein linkage and no sulphate?
Hyaluronic Acid
Role of Hyaluronic Acid in the body?
Cell migration during morphogenesis, wound repair
GAG with no uronic acid and role in corneal transparency?
Keratan Sulfate
GAG associated with sclera and LDL binding?
Dermatan Sulfate
What syndrome is associated with Vitamin B5 deficiency?
Burning feet Syndrome
What is the relationship between tryptophan and niacin synthesis?
60 mg tryptophan → 1 mg of niacin
What test is used to diagnose Hartnup disorder?
Obermeyer test
What dietary deficiency can lead to niacin deficiency?
Maize
What medication can cause niacin deficiency?
INH (Isoniazid)
Vitamin B6 deficiency symptoms?
convulsions, Neuropathy
Refractory seizures treatment?
Pyridoxine Mx
What condition is associated with defects in the Lamin A gene?
Progeria
What is the function of DNA Polymerase I?
DNA repair, removal of RNA primers
What is the exonuclease activity of DNA Polymerase I?
5'-3' and 3'-5'
What is the primary role of DNA polymerase II?
DNA repair
What is the exonuclease activity of DNA polymerase II?
3'-5'
What is the main function of DNA polymerase III?
Replication
What is the exonuclease activity of DNA polymerase III?
3'-5'
What is the activity of Pol α?
Primase activity, initiate DNA synthesis
What is the function of Pol β?
Repair process
What is the role of Pol γ?
Mitochondrial DNA synthesis
What is the function of Pol δ?
Lagging strand synthesis, Okazaki fragment
What is the primary role of Pol ε?
Leading strand
What is the elongation temperature in PCR?
72°C
Which lipoprotein has the minimum TAG levels?
HDL
Key product of glycolysis?
Pyruvate
What is the effect of Insulin on glycogen metabolism?
Stimulates glycogen synthesis and inhibits glycogen phosphorylase
What is McArdle's disease associated with?
Absent muscle glycogen phosphorylase
What is Tarui's disease associated with?
PFK-1 deficiency, Muscle + Hemolytic anemia
What does Anderson disease lead to?
Excess of Amylopectin, Toxic to the liver
What is the clinical presentation of Von Gierke disease?
Doll-like facies, Hypoglycemia, Hyperlipidemia, Hyperuricemia, Fatty liver
What is the effect of Calcium-calmodulin in muscle during contraction?
Activates glycogen phosphorylase
What is the result of a Glucagon challenge test in Von Gierke's and Cori's diseases?
Negative
What phenomenon is associated with McArdle's disease?
2nd Wind phenomenon
What is Fanconi-Bickel syndrome associated with?
Absent GLUT-2
What are the fasting and fed blood glucose levels in Fanconi-Bickel syndrome?
Fast Hypoglycemia, Fed Hyperglycemia
Deficient enzyme in Fabry's Disease?
α-Galactosidase
Key accumulation in Fabry's Disease?
Ceramide
Clinical features of Fabry's Disease?
Angiokeratomas, Neurological dysfunction, Cornea Verticillata, Maltese Cross in Urine
Key product of the TCA cycle?
NADH
Key product of fatty acid synthesis?
Malonyl-CoA
Key product of ketogenesis?
beta-hydroxybutyrate
Key product of the urea cycle?
Urea
Deficient enzyme in Krabbe's Disease?
β-Galactosidase
HBA1C lifespan?
2-3 months
Methods for determining primary structure of proteins?
Sanger's sequencing, Edman's sequencing, Reverse sequencing
Methods for determining secondary structure of proteins?
Optical rotator dispersion, Ocular dichroism
Methods for determining tertiary structure of proteins?
X-ray crystallography, UV spectroscopy, NMR spectroscopy
What is the Pasteur effect?
Inhibition of glycolysis by O2
What is the Crabtree effect?
Lactic acidosis if glucose concentration increased in presence of O2
What does direct positive Van der Bergh's reaction indicate?
Obstructive Jaundice
Clinical features of Krabbe's Disease?
Optic atrophy, Thalamic hyperdensity
Substrate utilized by the liver during fasting (12-18 hours)?
Fatty Acids
Substrate utilized by the liver during starvation (1-3 days)?
Amino acids
Substrate utilized by muscle during fasting (12-18 hours)?
Fatty Acids
Deficient enzyme in Gaucher's Disease?
β-Glucosidase
Most common lysosomal storage disorder?
Gaucher's Disease
What is the size characteristic of chylomicrons?
Max size
Blood lipid levels in Type III hyperlipoproteinemia?
Chylomicrons, VLDL ↓ Remnants
Clinical manifestations of Type III hyperlipoproteinemia?
Premature atherosclerosis, tuberoeruptive and palmar xanthoma, Broad beta band
Type IV hyperlipoproteinemia inheritance pattern?
AD
Pathogenesis of Type IV hyperlipoproteinemia?
Hepatic overproduction of VLDL
Blood lipid levels in Type IV hyperlipoproteinemia?
VLDL, TG
Clinical manifestations of Type IV hyperlipoproteinemia?
Acute pancreatitis
What is the first step of the urea cycle?
Carbamoyl phosphate synthesis
Which enzyme catalyzes the formation of carbamoyl phosphate in the urea cycle?
Carbamoyl phosphate synthetase I
What is the role of N-acetylglutamate in the urea cycle?
Allosteric activator of CPS-I
What does citrulline combine with in the cytoplasm of the urea cycle?
Aspartate
What are the products of the cleavage of argininosuccinate?
Arginine and fumarate
What is the final product of the urea cycle?
Urea
What condition is associated with OTC deficiency in the urea cycle?
Hyperammonemia
What is the function of arginase in the urea cycle?
Hydrolyzes arginine to urea and ornithine
Where does the urea cycle primarily occur?
Liver
What is the significance of the urea cycle in nitrogen metabolism?
Detoxifies ammonia by converting it to urea
What enzyme converts Fructose to Fructose-1-P?
Fructokinase
What is the product of Aldolase B acting on Fructose-1-P?
Dihydroxyacetone-P and Glyceraldehyde
What condition is caused by a deficiency in Aldolase B?
Hereditary Fructose Intolerance
What enzyme converts Galactose to Galactose-1-P?
Galactokinase
What is the role of Uridylyltransferase in Galactose metabolism?
Converts Galactose-1-P to Glucose-1-P
What condition is associated with a deficiency in Uridylyltransferase?
Galactosemia
Type II collagen locations?
Hyaline Cartilage, nucleus pulposus
Which processes are promoted by fed insulin?
Glycolysis, Glycogen Synthesis, Cholesterol Synthesis, FA Synthesis
What is the state of insulin during the fed state?
De-phosphorylated State
Where do the anabolic processes of fed insulin occur?
Cytoplasm
What is the metabolic state associated with fasting glucagon?
CATABOLIC
Which processes are promoted by fasting glucagon?
Glycogenolysis, Gluconeogenesis, KB Synthesis/Breakdown, FA oxidation
What is the state of glucagon during fasting?
Phosphorylated State
Where do the catabolic processes of fasting glucagon occur?
Mitochondria except Glycogenolysis (cytoplasm)
What processes occur in both mitochondria and cytoplasm?
Heme Synthesis, Urea Cycle, Gluconeogenesis
What inhibits Hormone Sensitive Lipase (HSL)?
Insulin, PGE1, Niacin
Deficient enzyme in mild galactosemia?
Galactokinase
Deficient enzyme in severe galactosemia?
Galactose-1-phosphate uridyltransferase
Enzyme that phosphorylates glucose?
Hexokinase/glucokinase
Deficient enzyme in von Gierke disease?
Glucose-6-phosphatase
Rate-limiting enzyme of the HMP shunt?
Glucose-6-phosphate dehydrogenase
Cofactor required for transketolase?
Thiamine
Rate-limiting enzyme of glycolysis?
Phosphofructokinase-1
Rate-limiting enzyme of gluconeogenesis?
Fructose-1,6-bisphosphatase-1
Deficient enzyme in essential fructosuria?
Fructokinase
Deficient enzyme in fructose intolerance?
Aldolase B
Enzyme that converts pyruvate to acetyl-CoA?
Pyruvate dehydrogenase
Enzyme that converts pyruvate to oxaloacetate?
Pyruvate carboxylase
Enzyme that converts phosphoenolpyruvate to pyruvate?
Pyruvate kinase
Enzyme that catalyzes the first step of the TCA cycle?
Citrate synthase
Enzyme that converts isocitrate to α-ketoglutarate?
Isocitrate dehydrogenase
Enzyme that converts α-ketoglutarate to succinyl-CoA?
α-ketoglutarate dehydrogenase
First enzyme of the urea cycle?
Carbamoyl phosphate synthetase
Enzyme that converts ornithine to citrulline in the urea cycle?
Ornithine transcarbamylase
Enzyme that converts propionyl-CoA to succinyl-CoA?
Propionyl-CoA carboxylase
Rate-limiting enzyme of cholesterol synthesis?
HMG-CoA reductase
Substrate for gluconeogenesis from lactate?
Pyruvate
Substrate for gluconeogenesis from alanine?
Pyruvate
Substrate for gluconeogenesis from glycerol?
Dihydroxyacetone phosphate
Substrate for gluconeogenesis from odd-chain fatty acids?
Propionyl-CoA
Key product of the HMP shunt?
NADPH
What are the co-factors for the Pyruvate dehydrogenase complex?
Vitamins B1, B2, B3, B5
What inhibits Lipoic Acid?
Arsenite
What are the sources of NADPH?
HMP shunt, malic enzyme, cytoplasmic isocitrate dehydrogenase
What are the sites of the HMP pathway?
Lens/RBCs, liver, adipose tissue, adrenal cortex, gonads
What is the role of PFK-1 in glycolysis?
Activated by AMP
What enzyme is active in the fasting state?
FBPase-2
What enzyme is active in the fed state?
PFK-2
What is the significance of the Rossman fold?
NADP binding domain
ATP yield from 1 NADH?
2.5 ATP
ATP yield from 1 FADH2?
1.5 ATP
Name an uncoupler of the electron transport chain?
Dinitrophenol
What is the role of brown fat in thermogenesis?
Non-shivering thermogenesis
What is the product of the reaction 1/2 O2 + 2H+?
H2O
What is the function of Complex I in the electron transport chain?
NADH dehydrogenase
What is the co-factor for Complex II (Succinate dehydrogenase)?
Fe (iron)
What is the role of Cytochrome c in the electron transport chain?
Electron carrier
What is the function of Complex IV?
Cytochrome c oxidase
What is the function of Complex V?
ATP synthase
What is the effect of oligomycin on the electron transport chain?
Inhibitor (blocks ATP synthase)
What is the role of CoQ in the electron transport chain?
Electron carrier (ubiquinone)
What is the effect of cyanide on the electron transport chain?
Inhibitor (blocks Complex IV)
What is the role of ADP + Pi in the electron transport chain?
Substrates for ATP production (generate ATP)
What is the effect of aspirin overdose on the electron transport chain?
Uncoupler
What is the role of the mitochondrial matrix in the electron transport chain?
Site of Krebs cycle and ATP synthesis
What enzyme converts Glucose to Glucose-6-phosphate?
Glucokinase or Hexokinase
What is the role of Glucose-6-phosphatase in glycogen metabolism?
Converts Glucose-6-phosphate back to Glucose
Which enzyme is absent in muscle tissue?
Glucose-6-phosphatase
What is the disease associated with a deficiency in the De-Branching Enzyme?
Cori disease
What enzyme is deficient in Pompe disease?
Lysosomal alpha-glucosidase
What are the clinical features of Pompe disease?
Hypotonia and cardiomyopathy
How does Glucagon affect glycogen metabolism?
Stimulates glycogen breakdown
What receptor does Glucagon bind to in the liver?
Glucagon receptor
What is the function of Pol δ?
Lagging strand synthesis
What is the function of Pol ε?
Leading strand synthesis
What activities are depicted in Klenow's fragment?
5'-3' polymerase, 3'-5' exonuclease proofreading, 5'-3' exonuclease primer removal
Clinical features of Gaucher's Disease?
Osteopenia, Erlen-Mayer Flask deformity, Metaphyseal Widening, Hepatosplenomegaly, Pancytopenia
Inheritance pattern of lysosomal storage disorders?
Autosomal Recessive
Exceptions to the autosomal recessive inheritance in lysosomal storage disorders?
Fabry's Disease, Hunter's Disease
Deficient enzyme in Tay-Sachs Disease?
Hexosaminidase A
Key accumulation in Tay-Sachs Disease?
GM-2 Gangliosidosis
Clinical features of Tay-Sachs Disease?
No Hepatosplenomegaly, ↑ prevalence in Jews, Onion skin bodies, Macrocephaly, Startle Reflex
Deficient enzyme in Niemann-Pick Disease?
Sphingomyelinase
Clinical features of Niemann-Pick Disease?
Hepatosplenomegaly, Foamy macrophages, Zebra bodies
What is the enzyme deficient in Hurler's syndrome?
α-L-iduronidase
What is the inheritance pattern of Hunter's syndrome?
X-Linked Recessive
What disease is characterized by adrenal calcifications?
Wolman's Disease
What enzyme is deficient in Wolman's disease?
Acid lipase
What is the enzyme deficient in Metachromatic Leukodystrophy?
Aryl Sulfatase
What is the characteristic appearance in the brain of a child with Metachromatic Leukodystrophy?
Tigroid Appearance
What is the enzyme deficient in Inclusion Cell Disease?
N-Acetyl glucosamine phosphotransferase
What is the deficiency in Farber's Disease?
Ceramidase
What are the key features of Tay-Sach's disease?
Cherry-Red Spots
What is the enzyme deficient in Gaucher's disease?
Glucocerebrosidase
What is the enzyme deficient in Fabry's disease?
Alpha-galactosidase A
What is the characteristic lipid accumulation in Niemann-Pick's disease?
Sphingomyelin
What is the inheritance pattern of Krabbe's disease?
Autosomal Recessive
What is the characteristic lipid accumulation in Krabbe's disease?
Galactocerebroside
What is the characteristic lipid accumulation in Fabry's disease?
Ceramide trihexoside
What is the characteristic lipid accumulation in Barth syndrome?
Cardiolipin
What is the starting molecule for fatty acid synthesis?
Acetyl-CoA
Which enzyme converts Acetyl-CoA to Malonyl-CoA?
Acetyl-CoA carboxylase
What stimulates the conversion of Acetyl-CoA to Malonyl-CoA?
Insulin
What inhibits the conversion of Acetyl-CoA to Malonyl-CoA?
Glucagon
What complex synthesizes fatty acids from Malonyl-CoA and Acetyl-CoA?
FA SYNTHASE COMPLEX
What is the primary product of fatty acid synthesis?
Palmitate
What reducing agent is used in fatty acid synthesis?
NADPH
What is the first step in fatty acid degradation?
Conversion to Fatty acyl-CoA
Which enzyme catalyzes the conversion of fatty acid to Fatty acyl-CoA?
Fatty acyl-CoA synthetase
What is required for the conversion of fatty acid to Fatty acyl-CoA?
ATP
What shuttle is involved in transporting Fatty acyl-CoA into the mitochondria?
Carnitine shuttle
Which enzyme facilitates the entry of Fatty acyl-CoA into the mitochondria?
Carnitine palmitoyl transferase I
What process occurs inside the mitochondria to degrade Fatty acyl-CoA?
β-oxidation
What is produced from β-oxidation of Fatty acyl-CoA?
Acetyl-CoA
Is ATP produced during Alpha oxidation and omega oxidation?
No
Where does Alpha oxidation occur?
Peroxisomes
Where does omega oxidation occur?
Smooth endoplasmic reticulum
What is the total ATP yield from complete fatty acid oxidation?
106 ATP
What enzyme catalyzes the conversion of Citrate to Acetyl-CoA?
ATP citrate lyase
What is the role of lipoprotein lipase in cholesterol metabolism?
Breaks down triglycerides, releasing free fatty acids
What is the function of HDL in cholesterol metabolism?
Removes cholesterol from cells and returns it to the liver
What is the significance of Apo A1 in cholesterol metabolism?
Activates LCAT for cholesterol esterification
What is the primary function of VLDL in cholesterol metabolism?
Delivers triglycerides to tissues
What is Friedewald's Formula used for?
Calculating LDL cholesterol levels
What are the main components of chylomicrons?
Triglycerides and cholesterol
What happens to chylomicron remnants after delivering triglycerides?
Taken up by the liver
What is the fate of IDL in cholesterol metabolism?
Can be taken up by the liver or converted to LDL
What is the role of LDL receptors in cholesterol metabolism?
Facilitates the uptake of LDL by cells
What is the difference between nascent HDL and mature HDL?
Nascent HDL is discoid and amphipathic; mature HDL is round and hydrophobic
What is the consequence of MCAD deficiency?
Non-ketotic hypoglycemia
What is a clinical feature of Jamaican Vomiting Sickness?
Retinitis pigmentosa
What is the metabolic defect in Refsum Disease?
x-oxidation
What accumulates in Refsum Disease?
Phytanic acid
What is the genetic defect in Abetalipoproteinemia?
MTTP gene defect
What are the lipid levels in Abetalipoproteinemia?
LOW HDL, HIGH VLDL
What is the genetic defect in Tangier's Disease?
ABCA-1 gene defect
What is the deficiency in Fish-Eye Disease?
Partial LCAT deficiency
What is the deficiency in Norum's Disease?
Complete LCAT deficiency
What is a characteristic finding in Zellweger's syndrome?
Absent peroxisomes
What is the primary lipid type in chylomicrons?
TAG
What type of lipid do VLDL transport?
Endogeneous
Which lipoprotein has the highest protein content?
HDL
Which lipoprotein has the maximum cholesterol content?
LDL
What is the density characteristic of HDL?
Max density
What metabolic disorder is characterized by black urine due to homogentisic acid accumulation?
Alkaptonuria
What is the urine odor associated with Type 1 Tyrosenemia?
Cabbage
What is the tetrad of disorders described by Garrod?
Cystinuria, Alkaptonuria, Albinism, Pentosuria
What is the enzyme that converts phenylalanine to tyrosine?
Phenylalanine hydroxylase
What is the role of Tetrahydrobiopterin (BH4) in amino acid metabolism?
Cofactor for phenylalanine hydroxylase
What is the enzyme deficient in Type 1 Tyrosenemia?
Fumaryl acetoacetate hydrolase
What is the urine odor associated with Hawkinsinuria?
Swimming pool
What is the enzyme involved in the conversion of DOPA to dopamine?
DOPA decarboxylase
What is the condition associated with a mousy odor in urine?
Phenylketonuria (PKU)
What is the enzyme deficient in Type 2 Tyrosenemia?
Tyrosine Amino Transferase
What diagnostic test is used for PKU?
Guthrie test
What is the metabolic consequence of Tetrahydrobiopterin (BH4) deficiency?
Non-classical PKU
What is the urine odor associated with Isovaleric Acidemia?
Sweaty feet/cheesy
What is the urine odor associated with Trimethylaminuria?
Rotting fish
What is the rate-limiting enzyme in heme synthesis?
ALA synthase
What is the cofactor required by ALA synthase?
Vitamin B6
What condition is associated with the step catalyzed by ALA synthase?
Sideroblastic anemia
What inhibits the activity of ALA synthase?
Glucose and hemin
What enzyme converts Aminolevulinic acid to Porphobilinogen?
ALA dehydratase
What condition is associated with lead poisoning affecting ALA dehydratase?
Lead poisoning
What is the clinical significance of Hydroxymethylbilane?
Acute intermittent porphyria
What symptoms are associated with Acute intermittent porphyria?
Neuropathy and acute abdominal pain
What enzyme converts Uroporphyrinogen III to Coproporphyrinogen III?
Uroporphyrinogen decarboxylase
What condition is associated with Uroporphyrinogen decarboxylase?
Porphyria cutanea tarda
What are the clinical manifestations of Porphyria cutanea tarda?
Hep. C, Photosensitivity, Blisters
What enzyme catalyzes the conversion of Protoporphyrin to Heme?
Ferrochelatase
What inhibits Ferrochelatase?
Lead poisoning
What is a marker for lead poisoning?
Zinc Protoporphyrin
What is the peak wavelength for Porphyrin 1?
413 nm
What is the peak wavelength for Porphyrin 3?
389 nm
What is the significance of the Soret Band in porphyrins?
Absorption peak at 413 nm
Type I collagen locations?
Bone, Tendon, Skin, Dentin, Cornea, Late wound repair, Fibrocartilage
Type I collagen deficiency condition?
Osteogenesis Imperfecta
Which amino acid is not lipotrophic?
Arginine
Functions of Heparan Sulfate?
LPL on endothelial surface, Plasma membrane receptor, GBM charge selectiveness
Effect of competitive inhibitor on Km and Vmax?
↑Km, ⓃVmax
Effect of uncompetitive inhibitor on Km and Vmax?
↓Km, ↓Vmax
Effect of non-competitive inhibitor on Km and Vmax?
ⓃKm, ↓Vmax
Lineweaver-Burk plot characteristic for competitive inhibition?
Lines intersect on y-axis at 1/Vmax
Lineweaver-Burk plot characteristic for uncompetitive inhibition?
Lines are parallel
Lineweaver-Burk plot characteristic for non-competitive inhibition?
Lines intersect on x-axis
Characteristic curve of allosteric enzymes?
Sigmoidal curve
What is the teratogenic effect of high doses of Vitamin A?
Teratogenic
What is the most specific sign of Vitamin A deficiency?
Bitot's spots
What skin condition is caused by Vitamin A deficiency?
Phrynoderma
What are the Vitamin A dosage recommendations for children under 1 year?
1 lakh each
What are the Vitamin A dosage recommendations for children over 1 year?
2 lakh each
What condition is associated with Vitamin D deficiency?
Rickets
What are the laboratory findings in Vitamin D deficiency?
↓PO4, ↑PTH, ↑ALP
What is the effect of Vitamin D deficiency on urinary calcium?
↓Urinary Ca2+
What are the characteristic X-ray findings in rickets?
Widening of growth plate
What are the signs of Vitamin C deficiency?
Scurvy
What is the main consequence of Vitamin C deficiency?
No collagen formation
What are the symptoms of scurvy?
Bleeding gums
What vitamin is associated with the gamma-Glutamyl Carboxylase enzyme?
Vitamin K
Which factors are dependent on Vitamin K?
Factor 2,7,9,10
What is the strongest antioxidant vitamin?
Vitamin E
What is a consequence of Vitamin E deficiency?
Hemolytic Anemia
What is the canonical name for Vitamin B1?
Thiamine
What is the assay used to measure Thiamine activity?
RBC Transketolase
What condition is characterized by a deficiency in Thiamine?
Beri-beri
What are the symptoms of wet Beri-beri?
High Output Cardiac failure
What are the symptoms of dry Beri-beri?
Neuropathy (Edema)
What are the classic symptoms of Wernicke's encephalopathy?
Global Confusion, Opthalmoplegia, Ataxia
What are the symptoms of Korsakoff syndrome?
AG/RG Amnesia + Confabulations
What metabolic condition is associated with branched-chain keto acid dehydrogenase deficiency?
Maple Syrup Urine Disease (MSUD)
What is the assay for Vitamin B2?
Glutathione Reductase
What are the symptoms of Vitamin B2 deficiency?
Corneal Neovascularisation, Cheilitis, Magenta tongue
What is the assay used to measure Vitamin B3 activity?
RBC NADH
What skin condition is associated with Vitamin B3 deficiency?
Cassal's Necklace
What are the symptoms of Pellagra?
Diarrhea, Dementia, Death
Key enzymes requiring Vitamin B6?
Decarboxylases, ALA synthase, Glycogen phosphorylase, Transamination
Vitamin B7 deficiency symptoms?
Dermatitis, Alopecia
What blocks biotin absorption?
Avidin
Vitamin B9 absorption site?
Jejunum
Vitamin B12 absorption site?
Ileum
Vitamin B12 deficiency in which population?
Vegans
Symptoms of Vitamin B12 deficiency?
Neuropathy, DTR loss, UMN signs
Carboxylation reactions catalyzed by which vitamin?
Biotin (vit. B7)
Exception to carboxylation reactions?
Y-Glutamyl Carboxylase
Symptoms of Marfan's syndrome?
Thromboembolism, Marfanoid habitus, Ectopia lentis
What is the structure of DNA?
Double helix
What proteins are DNA wrapped around to form nucleosomes?
Histones
What are the two forms of chromatin?
Euchromatin and heterochromatin
What is the inheritance pattern of mitochondrial DNA?
Maternal
How many proteins does mitochondrial DNA encode for the electron transport chain?
13 proteins
What is the role of DNA polymerase gamma?
DNA replication in mitochondria
Does mitochondrial DNA have proofreading capability?
No
What is the genetic code characteristic that states one codon codes for only one amino acid?
Unambiguous
What is the term for the redundancy in the genetic code due to the third base pair?
Degenerate
What are the stop codons in the genetic code?
UAG, UAA, UGA
What type of mutations can lead to Duchenne Muscular Dystrophy (DMD)?
Frameshift mutations
What is a silent mutation example for UCA (serine)?
UCU (serine)
What is the role of telomerase in germ cells?
Maintains telomeres
What is the sequence of the telomere in humans?
TTAGGG
What is the function of the D-loop region in mitochondrial DNA?
Regulation of mtDNA replication and transcription
What is the direction of DNA replication?
5'-3'
What is the proofreading ability of all DNA polymerases?
3'-5' exonuclease
What defect is associated with nucleotide excision repair?
Xeroderma Pigmentosa
What defect is associated with base excision repair?
MUTYH associated polyposis
What defect is associated with mismatch repair?
HNPCC
What defect is associated with NHEJ?
Ataxia Telangiectasia
What defect is associated with homologous end joining (HEJ)?
BRCA/Fanconi's Anemia
What is the polymerase activity of DNA polymerase I?
DNA repair, removal of RNA primers
What is the exonuclease activity of DNA polymerase I?
5'-3' and 3'-5'
What is the polymerase activity of DNA polymerase II?
DNA repair
What is the exonuclease activity of DNA polymerase II?
3'-5'
What is the polymerase activity of DNA polymerase III?
Replication
What is the exonuclease activity of DNA polymerase III?
3'-5'
What is the primase activity of Pol α?
Initiate DNA synthesis
What is the function of Pol β?
Repair process
What is the function of Pol γ?
Mitochondrial DNA synthesis
What are the types of DNA repair defects?
Nucleotide excision, Base excision, Mismatch repair, NHEJ, HEJ, Lamin A gene
What are the key elements involved in transcription?
Enhancers, promoters, UTRs, exons, introns, silencers
What is the function of the 5' cap in mRNA processing?
Addition of 7-methylguanosine cap; contranscriptional
What is the process of polyadenylation in mRNA processing?
Addition of ~200 A's to form a poly-A tail; posttranscriptional
What occurs during splicing in mRNA processing?
Splicing out of introns; posttranscriptional
What is RNA editing and how does it affect the apo-B gene?
CAA→UAA results in different proteins (Apo-B100 in liver, Apo-B48 in intestine)
What are the exceptions to the one gene - one protein hypothesis?
Alternate RNA splicing, RNA editing
What is the role of the LacI gene in the Lac operon?
Repressor protein
What binds to the CAP site in the Lac operon?
CAP protein
What is the function of allolactose in the Lac operon?
Inducer
What happens to Lac gene expression when both glucose and lactose are low?
Not expressed
What is the state of Lac gene expression when high glucose and lactose are available?
Very low expression
What occurs when the repressor protein binds to the operator in the Lac operon?
Blocks transcription
What is the effect of low glucose and lactose availability on Lac gene transcription?
Strong transcription
What are the characteristics of epigenetic changes in DNA?
Transmissible, Reversible, No sequence change
What is the effect of DNA methylation?
Mutes
What is the effect of histone acetylation?
Activates
What is the effect of histone deacetylation?
Deactivates
What diseases are associated with paternal deletion on chromosome 15?
Prader-Willi syndrome, Obesity, Hypotonia, ↑↑ Ghrelin
What diseases are associated with maternal deletion on chromosome 15?
Angelman syndrome, Gelastic seizures (Happy puppets)
What is the mechanism of Barr bodies?
DNA Inactivation
What gene is involved in the mechanism of Barr bodies?
XIST
What is the time frame for X-chromosome inactivation?
6 days
What is the result of gene knock-in?
Insertion
What is the result of gene knock-out?
Deletion
What is gene knock down?
Gene Silencing
What is RNA interference?
PTGS (Post Transcription Gene Silencing)
What is the role of DICER1 in RNA interference?
Mutation
What does the CRISPR-Cas9 system do?
Makes double-stranded breaks in DNA
What are the three main steps of PCR?
Denaturation, Annealing, Elongation
What is the denaturation temperature in PCR?
95°C
What is the annealing temperature in PCR?
55°C
What are the essential components required for PCR?
DNA template, DNA primers, heat stable DNA polymerase, dNTPs
What is the purpose of Real-time PCR?
Quantitative analysis (e.g., Ph chromosome, viral load)
What does RT PCR stand for and what is its purpose?
Reverse Transcriptase PCR, used for RNA
What is Digital droplet PCR used for?
Little sample volume, e.g., COVID-19 testing
What is Sanger's sequencing used for?
DNA sequencing, 3 billion bp/19.5k genes
What is NGS?
Next Generation Sequencing
What does the acronym 'SNOW DROP' refer to in blotting techniques?
| Method | Detects |
|---|---|
| Southern blot | DNA |
| Northern blot | RNA |
| Western blot | Protein |
| Southwestern blot | DNA-binding protein |
| DNA footprinting | Protein-DNA interaction (footprinting) |
What does Southern blotting detect?
| Method | Detects |
|---|---|
| Southern blot | DNA |
| Northern blot | RNA |
| Western blot | Protein |
| Southwestern blot | DNA-binding protein |
| DNA footprinting | Protein-DNA interaction (footprinting) |
What does Northern blotting detect?
| Method | Detects |
|---|---|
| Southern blot | DNA |
| Northern blot | RNA |
| Western blot | Protein |
| Southwestern blot | DNA-binding protein |
| DNA footprinting | Protein-DNA interaction (footprinting) |
What does Western blotting detect?
| Method | Detects |
|---|---|
| Southern blot | DNA |
| Northern blot | RNA |
| Western blot | Protein |
| Southwestern blot | DNA-binding protein |
| DNA footprinting | Protein-DNA interaction (footprinting) |
What does Southwestern blotting detect?
| Method | Detects |
|---|---|
| Southern blot | DNA |
| Northern blot | RNA |
| Western blot | Protein |
| Southwestern blot | DNA-binding protein |
| DNA footprinting | Protein-DNA interaction (footprinting) |
What is CGH in molecular biology?
Comparative Genomic Hybridization
What does RFLP stand for?
Restriction Fragment Length Polymorphism
What is a key application of RFLP?
Genome mapping
What type of mutation does RFLP detect?
Mutation affecting palindromic sites
What is the role of EcoRI in RFLP?
Restriction enzyme that cuts DNA at specific sites
What does the presence of different RFLP band patterns indicate in a pedigree?
Inheritance of RFLP markers
What is the RNA product sequence from the DNA template GATCTAC?
CUAGAUG
What does the genotype AA show in gel electrophoresis?
| Genotype | Gel band pattern |
|---|---|
| AA | One long band |
| aa | One short band |
| Aa | Both long and short bands |
What does the genotype aa show in gel electrophoresis?
| Genotype | Gel band pattern |
|---|---|
| AA | One long band |
| aa | One short band |
| Aa | Both long and short bands |
What does the genotype Aa show in gel electrophoresis?
| Genotype | Gel band pattern |
|---|---|
| AA | One long band |
| aa | One short band |
| Aa | Both long and short bands |
What does FISH stand for in genetics?
Fluorescence In Situ Hybridization
What is the best method for detecting aneuploidy?
FISH
What is the role of colchicine in metaphase chromosome analysis?
Inhibits spindle tubule formation
What type of fixative is used in chromosome analysis?
Carnoy fixative
What does C-staining refer to in chromosome staining?
| Letter | Staining/Meaning |
|---|---|
| C | Centromere staining |
| G | Giemsa |
| R | Reverse Giemsa |
| T | Telomerase |
| Q | Quinacrine (Fluorescence) |
What does G in G/R/T/C/Q staining represent?
| Letter | Staining/Meaning |
|---|---|
| C | Centromere staining |
| G | Giemsa |
| R | Reverse Giemsa |
| T | Telomerase |
| Q | Quinacrine (Fluorescence) |
What does R in G/R/T/C/Q staining represent?
| Letter | Staining/Meaning |
|---|---|
| C | Centromere staining |
| G | Giemsa |
| R | Reverse Giemsa |
| T | Telomerase |
| Q | Quinacrine (Fluorescence) |
What does T in G/R/T/C/Q staining represent?
| Letter | Staining/Meaning |
|---|---|
| C | Centromere staining |
| G | Giemsa |
| R | Reverse Giemsa |
| T | Telomerase |
| Q | Quinacrine (Fluorescence) |
What does Q in G/R/T/C/Q staining represent?
| Letter | Staining/Meaning |
|---|---|
| C | Centromere staining |
| G | Giemsa |
| R | Reverse Giemsa |
| T | Telomerase |
| Q | Quinacrine (Fluorescence) |
What are the types of chromosomal abnormalities detected by FISH?
Microdeletion, Translocation, Amplification
What is not considered a point mutation?
Amplification
Deficient enzyme in Menke's disease?
Lysyl oxidase
Deficient enzyme in Ehler Danlos syndrome?
Lysyl hydroxylase
