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MCS > Exam 2 Diseases/Drugs > Flashcards

Exam 2 Diseases/Drugs Flashcards

1
Q

Lebers hereditary optic neuropathy

A

Caused by mutations in one of the genes in mitochondrial DNA; affects oxidative phosphorylation; leads to rapid occurrence of blindness

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2
Q

Leigh syndrome

A

Sub-par utilization of oxygen due to some defect in pathways of oxidative phosphorylation; get lactic acidosis

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3
Q

What results from mutation in isocitrate dehydrogenase?

A

Get formation of 2-hydroxyglutarate (2HG) instead of alpha-ketoglutarate. 2 HG competitively inhibits a-ketoglutarate-dependent dioxygenases (which have important role in demethylation reactions for histones and DNA); leads to hypermethylation in glioma and acute myelocytic leukemia

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4
Q

How does low levels of fumarate in some kidney tumors contribute to the condition?

A

There are low levels of fumarase, so metabolic shift to aerobic glycolysis in cancer cells due to decreased TCA cycle.

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5
Q

Chronic granulomatous disease (CGD)

A

Rare genetic disorder caused by defective gene for one of the subunits of NADPH oxidase. People w/ CGD have difficulty ridding themselves of bacterial infection, especially those caused by bacteria that produce catalase to protect themselves against the hydrogen peroxide generated by the macrophages and neutrophils that engulf them.
Often results in granuloma (a persisting nest of infected cells)
One of the genes for an NADPH oxidase subunit that is most frequently mutated in CGD is on the X chromosome

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6
Q

Amyotrophic Lateral Sclerosis (ALS)

A

A fatal neurodegenerative disorder that affects the motor neurons. Can be familial (fALS) or sporadic (sALS). Is a protein misfolding disease in which there is protein aggregation. In 20% of fALS cases, there are mutations in the SOD1 gene, whose product is CuZnSOD. Can have problems with metal binding ligands or regions associated w/ metal binding. SOD1 mutations are autosomal dominant in fALS.

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7
Q

Why is there tendency to develop hemolytic anemia when there is glucose-6-phosphate dehydrogenase deficiency?

A

Pentose phosphate pathway is the only source of NADPH for RBCs. NADPH is used to keep glutathione reduced. With low concentrations of reduced glutathione, RBC is more sensitive to oxidative stress. A lot of drugs present oxidative stress to cells. There is a tendency to develop hemolytic anemia. The gene for G6-P dehydrogenase is on X chromosome.

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8
Q

Essential fructosuria

A

Caused by lack of fructokinase (which converts fructose to fructose 1-phosphate so it can be acted on by aldolase B to form DHAP and glyceraldehyde)
Relatively harmless; will have elevated blood fructose levels and fructose will be excreted in the urine

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9
Q

Hereditary fructose intolerance (HFI)

A

Caused by deficiency of aldolase B. Fructose 1-P gets trapped intracellularly since it doesn’t get across cell membranes very well. There is a resulting drop in Pi and therefore ATP levels drop, which affects gluconeogenesis and results in hypoglycemia with vomiting. Also have hyperuricemia, liver damage, GI troubles, etc. Treatment is to omit fructose and sucrose (one of this disaccharide’s units is fructose) from diet

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10
Q

Classic galactosemia

A

Uridyltransferase deficiency
Autosomal recessive
Treated by removal of galactose (and therefore lactose) from diet
Get accumulation of galactose 1-P which is shuttled into a side pathway; get more galactitol which causes cataracts
Also get more serious symptoms such as serious liver problems and mental retardation

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11
Q

Galactokinase deficiency

A

Caused by deficiency in galactokinase

Causes galactosemia and galactosuria

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12
Q

Aldose reductase deficiency

A

Caused by deficiency in aldose reductase, which produces galactitol from galactose; physiologically unimportant unless galactose levels are high (as in galactosemia)

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13
Q

What are the names of the glycogen storage diseases?

A 
Type I - Von Gierke
Type II - Pompe
Type III - Cori
Type IV - Andersen
Type V - McArdle
Type VI - Hers Disease
Type IX
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14
Q

What are the enzymes affected by the glycogen storage diseases?

A

Type I - Von Gierke (glucose 6-phosphatase)
Type II - Pompe (lysosomal alpha glucosidase)
Type III - Cori (glycogen debranching enzyme)
Type IV - Andersen (glycogen branching enzyme)
Type V - McArdle (muscle glycogen phosphorylase)
Type VI - Hers (liver glycogen phosphorylase)
Type IX - liver glycogen phosphorylase kinase

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15
Q

Von Gierke Disease

A

Glycogen storage disease that affects glucose-6-phosphatase
Organs involved: liver, kidney
Characteristics: hypoglycemia, enlarged liver, lactic acidosis, ketosis
High levels of G6-P activate glycogen synthase b, the normally inactive form
Get accumulation of glycogen
Type IB is G6P translocase deficiency

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16
Q

Pompe Disease

A

Glycogen disease that affects lysosomal alpha glucosidase
Glycogen structure: normal
Organs involved: generalized
Characteristics: enlarged heart, cardiorespiratory failure
Causes accumulation of glycogen in lysosomes
Organ affected that leads to death is heart

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17
Q

Cori Disease

A

Glycogen storage disease that affects glycogen debranching enzyme
Glycogen structure: short outer chains on fasting (b/c only glycogen phosphorylase can function and it will only get so far)
So, get limited glycogen breakdown
Organs involved: generalized
Characteristics: enlarged liver, moderate hypoglycemia, acidosis
Symptoms are like a milder Type I

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18
Q

Andersen Disease

A

Glycogen storage disease that affect glycogen branching enzyme.
Glycogen structure: few branch points
Organs involved: generalized
Characteristics: cirrhosis, progressive liver failure

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19
Q

McArdle Disease

A

Glycogen storage disease that affects muscle glycogen phosphorylase
Glycogen structure: normal
Organs involved: skeletal muscle
Characteristics: muscle cramps on exercise

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20
Q

Hers Disease

A

Glycogen storage disease that affects liver glycogen phosphorylase
Glycogen structure: normal
Organs involved: liver
Characteristics: enlarged liver, moderate hypoglycemia, mild acidosis (like milder Type I)

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21
Q

Type IX

A

Enzyme defect: liver glycogen phosphorylase kinase
Glycogen structure: normal
Organs involved: liver
Deficiency said to be X-linked recessive
Enzyme has multiple subunits, each coded by a different gene
Some of these genes are X-linked, but at least one isn’t

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22
Q

I-Cell Disease

A

Results from an enzyme deficiency such that lysosomal enzymes do not acquire the targeting signal, mannose-6-phosphate
Fibroblasts in this disease have dense inclusion bodies (I-cells) that are deficient in many lysosomal enzymes
Lysosomes become engorged w/ indigestible structures, leading to death in infancy
Have abnormalities in joints, mental retardation, enlarged liver, heart problems, etc.

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23
Q

Mucopolysaccharidoses (MPS)

A

A series of hereditary diseases resulting from mutations in genes coding for degradative enzymes acting on glycosaminoglycan (mucopolysaccharides)
Enzymes are almost all hydrolases and deficiency leads to mental retardation and/or structural deformities
Have an autosomal recessive inheritance (w/ exception of X-linked Hunter Syndrome). In general, heparan sulfate accumulation seems to lead to mental retardation.

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24
Q

Hurler’s Disease

A

Type I MPS due to deficiency in α-L-irudonidase
Degradation of dermatan sulfate and heparan sulfate are affected
Accumulation of dermatan sulfate and heparan sulfate
There is corneal clouding, mental retardation, dwarfing, dysmorphic facial features, upper airway obstruction and hearing loss

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25
Q

Hunter Syndrome

A

Type II MPS due to deficiency of iduronate sulfatase
No corneal clouding, but mild to severe mental retardation and physical deformity
There is defect in removal of sulfate group (last to be added, first to be removed)
Degradation of dermatan sulfate and heparan sulfate are affected

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26
Q

Sanfilippo Syndrome

A

Type III MPS that has locus heterogeneity (multiple gene changes can give rise to same set of symptoms)
Deficiency in one of the 4 degradative enzymes
4 enzymatic steps are necessary for removal of N-sulfated or N-acetylated glucosamine residues from heparan sulfate
Severe mental retardation but little structural change

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27
Q

Morquio Syndrome

A

Type IV MPS due to deficiency of a galactose-6-sulfatase or β-galactosidase
Leads to accumulation of keratan sulfate
Normal intelligence but severe deformation

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28
Q

What drugs inhibit pancreatic lipase?

A

Orlistat and Alii inhibit pancreatic lipase, preventing triglyceride absorption and digestion

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29
Q

What drug reduces triglycerides by inhibiting DGAT (AcylCoA: 1,2-diacylglycerol acyltransferase)?

A

Lovaza. DGAT typically re-converts fatty acids and diacylglycerols into triacylglycerides once they pass through the gut lumen are in the enterocytes

30
Q

What does metformin do?

A

It is used to treat diabetes. It is an activator of AMPK (AMP-activated protein kinase). This is kind of odd since AMPK inhibits insulin secretion in the pancreas. However, might work not by increasing insulin secretion but by making pt more sensitive to whatever insulin is already present

31
Q

Medium chain acyl CoA dehydrogenase deficiency (MCADD)

A

Deficiency in enzyme in first oxidative step in breakdown of medium chain fatty acids
Autosomal recessive disorder
Get accumulation of medium chain fatty acids in the liver
Symptoms in early childhood: lethargy, vomiting, hypoketosis, hypoglycemia, liver dysfunction

32
Q

Lipodystrophy

A

Rare disorder
Don’t gain weight but have conditions associated w/ obesity (Type II diabetes, high triglycerides, fatty liver, etc.)
Have severely reduced leptin production
Found that adipose tissue is like an organ
Normal people want to store fat in adipose tissues (fat cells get large but # of cells stays the same)
If there is no fat tissue to go to, fat is stored in other organs (liver, heart, muscles, pancreas)
Visceral fat is that which blocks up organs, leading to organ failure or dysfunction

33
Q

Metabolic syndrome

A

If there is nowhere to store fat, it goes to other organs
Clinical profile of someone w/ metabolic syndrome: large waistline since fat is probably surrounding organs
Syndrome has many symptoms: stressing out of vasculature

34
Q

Statins

A

Competitively inhibit HMGR (HMG CoA reductase) from cholesterol synthesis by mimicking the transient intermediate mevaldyl CoA

35
Q

Ezetimibe

A

(Zeta) Inhibits cholesterol uptake in the gut; work at small intestine brush border; doesn’t enter bloodstream

36
Q

Vytorin

A

Ezetimibe + simvastatin

37
Q

Clinical manifestations of hyperlipidemia linked to elevated plasma chylomicrons and/or LDL

A

Cutaneous xanthomas, lipemic plasma, lipemia retinalis (veins and arteries of the eye have milky appearance due to amount of fat in blood), tuberous xanthomas, palmar crease xanthomas

38
Q

Familial hypercholesterolemia (FH)

A

Autosomal dominant disorder
Caused by mutations in the gene encoding the LDL receptor (also known as apoB100/apoE receptor)
When LDL receptor functions normally, LDL particles are taken up by the cells, leading to increased intracellular cholesterol levels and inhibition of cholesterol synthesis
When intracellular cholesterol is high, expression of cholesterol synthesis genes is blocked
HMGR can be down-regulated transcriptionally or by phosphorylation by AMPK or by degradation

39
Q

What are the classes of LDL receptor mutations?

A

Class 1: no receptors synthesized; mutations in LDLR promoter, frameshift or splicing mutations
Class 2: receptors are synthesized, but retained intracellularly in the ER or golgi complex; such as if not folded properly and doesn’t make it out of the cell because of this
Class 3: receptors reach the cell surface but lack normal LDL binding
Class 4: receptors reach the cells surface and bind LDL but are not clustered in coated pits and endocytosed; they are bound and frozen at cell surface

40
Q

Anti-PCSK9 antibody

A

PCSK9 is a normal human proteins that binds LDL receptor and stimulates receptor endocytosis; endosomes containing the receptor fuse w/ lysosomes, resulting in degradation of receptor in lysosomes; thus, get less LDL receptor
Anti-PCSK9 antibodies bind PCSK9 and prevent its interaction w/ LDLR
Increases the surface presence of LDLR, so it can bind LDL particles and bring them into the cell

41
Q

Bile acid sequestrants

A

Block reabsorption of bile acids in the gut, thus leading to bile acid excretion in the feces and cholesterol is eliminated

42
Q

Lopitamide

A

Inhibits microsomal triglyceride transfer protein (MTP or MTTP), which is necessary for the assembly and secretion of chylomicrons and VLDL assembly and secretion in the liver

43
Q

Tay-Sachs Disease

A 
A sphingolipidoses
Accumulation of gangliosides
Deficiency of β-hexosaminidase A
Rapid and progressive neurodegeneration
Cherry-red macula, muscular weakness, seizures
44
Q

Gaucher Disease

A

Autosomal inheritance of gene for glucoceribrosidase that is encoded on chromosome 1
Treated by injection of glucocererbrosidase
There is accumulation of glucocerebrosides that causes multiple problems, but no neurological degeneration

45
Q

Farber Disease

A

Accumulation of cerramide
Painful and progressive joint deformity
Hoarse cry
Tissues show granulomas

46
Q

Nemann-Pick Disease

A

Accumulation of sphingomyelin
Hepatosplenomegaly
Neurodegenerative course

47
Q

NSAIDs

A

Non-steroidal anti-inflammatory drugs
Inhibit COX enzymes
Reduce production of prostaglandins and thromboxanes
Reduce pain, fever, and inflammation
Side effects: GI irritation, ulcers, bleeding, etc. (since COX-1 helps create GI lining)

48
Q

Aspirin

A

Works on both COX-1 and COX-2 to inhibit arachidonic acid’s entry into the active site of the enzyme
Acetyl group of aspirin binds to serine in COX
By blocking activity of the COX enzymes, relieves some of the effects of pain and fever
Non-selective
Many side effects

49
Q

Reyes Syndrome

A

Swelling of brain and possible death when kids are given baby aspirin

50
Q

Tylenol

A

Thought to work by inhibiting activity of COX-3, an alternatively spliced form of COX-1

51
Q

Low dose aspirin therapy

A

Aspirin irreversibly inhibits COX 1 and 2
Has a short half-life
New platelets are constantly being made
Will therefore reduce but not abolish the ability for blood to clot, thereby reducing heart attacks and strokes

52
Q

Coxibs

A

COX 2 inhibitors
There is a valine at position of 523 in COX-2 instead of isoleucine in COX-1
This leads to a side pocket in COX 2; they developed molecules that could bind to side pocket in COX-2 and prevent entry of arachnoid acid into the active site
Found that these COX-2 inhibitors are good for treating osteoarthritis and rheumatoid arthritis, but show an increase in risk for heart attack and stroke

53
Q

Cystinuria

A

There are 7 aa transporters that exist and are used in aa uptake in the gut and re-uptake in the proximal convoluted tubule
In cystinuria, transporter for cysteine, ornithine, arginine and lyseine is defective and all 4 aa’s appear in the urine since they are aren’t reabsorbed in the proximal convoluted tubule
Cysteine precipitates in the acidic urine, forming stone (calculi) since it’s not soluble in acidic pH of urine
This is a recessive genetic condition

54
Q

Kwarshiarkor

A

Prevalent in western Africa more than U.S.
Caused by protein malnutrition due to very protein-deficient diet
Failure to gain weight and swollen abdomen are characteristic
Can treat it w/ re-introduction of proteins

55
Q

Parkinson Disease

A

Caused by degeneration of dopamine neurons in the substantia nigra pars compacta
Symptoms: Paucity of spontaneous movement, tremor at rest, muscle rigidity, shuffling gait, etc.
Oral administration of L-DOPA found to be beneficial, but effects diminish after 5 years

56
Q

MAO Inhibitors

A

The first anti-depressants

MAO inhibitors block degradation of catecholamines (epinephrine, norepinephrine, dopamine)

57
Q

Fluoxetine

A

(Prozac)
Blocks reuptake of serotonin
Serotonin is typically degraded by MAO

58
Q

Phenylketonuria (PKU)

A

Caused by partial or substantial defect in phenylalanine hydroxylase, resulting in elevated levels of phenylalanine in blood and urine
Symptoms: hypopigmentation (due to inhibition of tyrosinase essential for melanin formation), CNS symptoms (intellectual disability, developmental delay, seizures)
Treatment is diet deficient in phenylalanine
Can also be caused by deficiencies in any of the several enzymes required to synthesize BH4 or in dihydropteridine reductase, which regenerates BH4 from BH2

59
Q

Maple syrup urine disease (MSUD)

A

Autosomal recessive
Partial or complete deficiency in mitochondrial branched chain alpha-keto acid dehydrogenase, that oxidatively decarboxylates Leu, Ile, and Val (branched chain amino acids, BCAAs)
These BCAAs and their corresponding alpha-keto acids accumulate in blood, causing interference w/ brain functions
Characteristic maple syrup odor in urine due to rise in Ile
Treatment: synthetic formula free of BCAA’s supplemented w/ limited amounts of Leu, Ile, and Val to allow normal growth and development w/o producing toxic levels

60
Q

Albinism

A

Autosomal recessive
Results from defective copper-requiring tyrosinase activity
White skin, pink eyes, hypopigmented pale skin, sensitive to sunlight
Treatment is protection from UV exposure
Arises from deficiency in enzyme tyrosinase, which metabolizes tyrosine to form melanin

61
Q

Malignant melanoma

A

Most serious form of skin cancer
Due to abnormal growth of melanocytes in the skin, caused by mutations in protein kinase called BRAF, which is involved in the proliferative pathway
Most pts w/ malignant melanoma have glutamic acid instead of valine at 600 position of BRAF
This causes the pathway to be super-activated; get tumor cell growth

62
Q

Sabfrafenib

A

Prevents activation of MEK by BRAF

63
Q

Trametinib

A

Prevents activation of ERK by MEK

64
Q

Homocystinuria

A

Group of rare disorders involving defects in metabolism of homocysteine
Characterized by high plasma and urinary levels of homocysteine and methionine
Patients exhibit lens dislocation, skeletal abnormalities (long limbs and fingers), intellectual disability, increased risk for developing blood clots; there is association b/w cardiovascular disease mortality and total plasma Hcy
Treatment includes restriction of methionine and supplementation w/ vitamins B6, B12, and folate

65
Q

Alkaptonuria

A

Rare, non-fatal metabolic condition involving deficiency in homogentisic acid oxidase, resulting in accumulation of homogentistic acid
3 characteristic symptoms: homogentistic aciduria (urine becomes dark upon standing), large joint arthritis that can be severely crippling, deposition of black pigment in cartilage and collagenous tissue
Diets low in Phe and Tyr reduce the levels of HA and decrease the amount of pigment deposited in body tissues

66
Q

Erectile dysfunction treatment

A

NO acts by stimulating guanylate cyclase in vascular smooth muscle. Erectile dysfunction is treated by Viagra and related drugs that inhibit phosphodiesterase-5, a cGMP-specific phosphodiesterase that is responsible for the degradation of cGMP in the vascular smooth muscle of the penis

67
Q

What does gout occur due to?

A

Hyperuricemia due to decreased uric acid excretion or increased uric acid production
Due to lost regulation of PRPP synthase and PRPP amidotransferase or defects in salvage pathway leading to increased PRPP and guanine

68
Q

Allopurinol

A

Drug used to treat gout; is an xanthine oxidase suicide inhibitor; decreases urate, increases xanthine and hypoxanthine, decreases PRPP

69
Q

Lesch-Nyhan Syndrome

A

X-linked recessive
Severe HGPRT deficiency: decreased IMP and GMP, increased PRPP and de novo purine pathway
Hyperuremia, gouty arthritis, kidney stones, tophi
Neurological disability: spasticity, hyperflexxia,
Behavioral problems: cognitive dysfunction, agression, self-injury

70
Q

SCID

A

Severe combined immunodeficiency syndrome
Autosomal recessive disorder
Mutations in ADA (adenosine deaminase)
Infants subject to bacterial, candidiasis, viral, protazoal infections
Both T and B cells reduced (dATP is toxic)
Cloned ADA into an adenovirus vector: successful gene therapy

MCS (7 decks)

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