Biochemistry Flashcards

1
Q

Heterochromatin vs. Euchromatin, which is expressed?

A

HeteroChromatin is Highly Condensed

Euchromatin is Expressed

pg. 32

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2
Q

Histone/DNA modifications that change gene expression

(there are 3)

A

CpG Methylation Makes DNA Mute

Histone Methylation Mostly Makes DNA Mute

Histone Acetylation makes DNA Active

pg 32

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3
Q

Lesch Nyhan Syndrome

Hint: enzyme absent is mnemonic for clinical presentation

A

Enzyme absent: HGPRT (funtions in purine salvage pathway)

Hyperuricemia

Gout

Pissed off (aggression, self-mutilation)

Retardation (intellectual disability)

DysTonia

pg 34

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4
Q

Drugs that act on microtubules

Hint: mnemoic is Microtubules Get Constructed Very Poorly

A

Mebendazole (antihelminthic)

Griseofulvin (antifungal)

Colchicine (antigout)

Vincristine/Vinblastine (anticancer)

Paclitaxel (anticancer)

pg 44

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5
Q

Types of Collagen

Hint: mnemonic is Be (So Totally) Cool, Read Books

A

Type I: Bone (also, B”one” has the word one in it)

Skin

Tendon

Type II: Cartilage (also, think carTWOlage)

Type III: Reticulin (skin, blood vessels, uterus). Affected in Ehler Danlos, so think ThreE D

Type IV: Basement Membrane (think type four under the floor)

pg. 46

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6
Q

Osteogenesis Imperfecta clinical presentation

Hint: mnemonic is Patients can’t BITE

A

Genetic bone disorder, decreased production of type I collagen

Presentation:

Bones = multiple fractures

I (eye) = blue sclerae

Teeth = dental imperfections

Ear = hearing loss

****May be confused with child abuse*****

pg 47

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7
Q

X-linked recessive disorders

Warning: this is a gnarly ass mnemonic

Hint: mnemonic is Oblivious Female Will Often Give Her Boys Her x-Linked Disorders

A

Ornithine Transcarbamylase Deficiency

Fabry Disease

Wiskott-Aldrich syndrome

Ocular albinism

G6PD deficiency

Hunter syndrome

Bruton agammaglobulinemia

Hemophilia A and B

Lesch-Nyhan syndrome

Duchenne (and Becker) muscular dystrophy

pg 56

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8
Q

Duchenne Muscular Dystrophy is due to what type of mutation?

A

Duchenne = deleted Dystrophin

pg 57

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9
Q

Myotonic type I Muscular Dystrophy presents with what clinical presentation?

Hint: The trinucelotid repeat responsible is CTG, and that is the mnemonic

A

Cataracts

Toupee (Early balding in men)

Gonadal Atrophy

pg 57

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10
Q

Fragile X syndrome clinical presentation

Hint: trinucleotide repeat is CGG, is also the mnemonic

A

Chin (protruding)

Giant Gonads

pg 58

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11
Q

Trinucleotide repeat expansion diseases

Hint: mnemonic is Try hunting for my fragile cage free eggs

A

Try (trinucleodide)

hunting (Huntington)

for my (myotonic dystrophy)

fragile (fragile X)

cage free eggs (Friedrich ataxia)

pg 58

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12
Q

Trinucleotide repeat for Huntington disease

A

CAG

Caudate has

less ACh and

GABA

pg 58

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13
Q

Trinucleotide repeat for Friedreich ataxia

A

GAA

Ataxic GAAit

pg 58

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14
Q

Down Syndrome is a trisomy of what chromosome?

A

21 (Drinking age is 21)

Associated with: duodenal atresia, Hirschsprung disease, congenital heart disease (eg AV septal defect), Brushfield spots, early-onset Alzheimer disease, increased risk for ALL and AML

pg 59

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15
Q

Edwards Syndrome is a trisomy of what chromosome?

Also Clinical Findings

Hint: mnemonic for clinical findings is PRINCE Edward

A

18 (Election aege=18)

Clinical Findings:

Prominent Occiput

Rocker Bottom Feet

Intellectual disability

Nondisjunction

low-set Ears

pg 59

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16
Q

Patau syndrome is a trisomy of what chromosome? Also what are the clinical findings?

Hint: clinical findings are all associated with the letter P

A

Trisomy 13 (Puberty=13)

Clinical Findings: cleft liP/Palate, holoProsencephaly, Polydactyly, cutis aPlasia, congenital heart disease

pg 59

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17
Q

What does a microdeletion at 22q11 present with?

Hint: mnemonic is CATCH-22

A

Variable presentations including

Cleft palate,

Abnormal facies,

Thymic aplasia

Cardiac defects, and

Hypocalcemia secondary to parathyroid aplasia.

Associated with both DiGeorge Syndrome and Velocardiofacial syndrome.

pg. 61

18
Q

What is another, more clinical name for Vitamin A?

What are its pharmacologic uses?

A

Retinol is vitamin A, so think retin-A (used for wrinkles and Acne)

Pharmacologically, Isotretinoin is used as a Vitamin A derivative. However, this is teratogenic.

pg 62

19
Q

What is Vitamin B1’s physiologic use?

What is the name of a Vitamin B1 deficiency?

A

Physiologic use: cofactor for several dehydrogenase enzymes. Think ATP:

Alpha-ketoglutarate dehydrogenase

Transketolase

Pyruvate dehydrogenase

Vitamin B1 deficiency= beriberi

Think of spelling it Ber1Ber1

pg 62

20
Q

What is Vitamin B2’s physiologic role?

How does a deficiency present clinically?

A

B2 is a component of FAD and FMN. FAD and FMN are derived from riboFlavin (B2 = 2 ATP)

Deficiency: Cheilosis (inflammation of the lips, scaling and fissures at the corners of the mouth), and Corneal vascularization

(the 2 Cs of Vitamin B2)

pg 63

21
Q

What is Vitamin B3 (niacin)’s role physiologically?

How does a deficiency present clinically?

A

B3 is a constituent of NAD+, NADP +

(NAD is derived from Niacin), (B3 = 3ATP)

Deficiency: Pellagra.

Diarrhea, Dementia (and hallucinations), and Dermatitis (C3/C4 dermatome circumferential “broad collar” rash [Casal necklace], hyperpigmentation of exposed limbs)

The 3Ds of Vitamin B3

pg 63

22
Q

Scurvy is due to what type of nutritional deficiency?

A

Vitamin C deficiency causes sCurvy due to a Collagen synthesis defect

pg 65

23
Q

What is Vitamin K’s physiologic role?

A

Vitamin K is for Koagulation

Necessary for the maturation of factors II, VII, IX, X, and proteins C and S.

pg 66

24
Q

Kwashiokor’s clinical presentation

Hint: mnemonic is Kwashiokor results from protein-deficient MEALS

A

Malnutrition

  • *E**dema
  • *A**nemia

Liver (fatty)

Skin lesions (hyperkeratosis/hyperpigmentation)

pg 67

25
Q

Marasmus clinical presentation

A

Marasmus results in Muscle wasting

(not specifically due to protein deficiency, just caloric insufficiency)

pg 67

26
Q

Pharmacologic role of FOMEpizole

A

For Overdoses of Methanol or Ethylene glycol

Inhibits alcohol dehydrogenase

pg 68

27
Q

Pharmacologic role of Disulfiram

A

discourages drinking

inhibits acetaldehyde dehydrogenase, causing acetaldehyde to accumulate, contributing to hangover symptoms

pg 68

28
Q

TCA (Krebs) Cycle intermediates

Hint: mnemonic is Citrate Is Krebs’ Starting Substrate For Making Oxaloacetate

A

Citrate –> Isocitrate –> alpha Keto-glutarate –> Succinyl CoA –> Succinate –> Fumarate –> Malate –> Oxaloacetate

pg 73

29
Q

Glucose-6-phosphate dehydrogenase deficiency blood smear findings

A

Heinz bodies = denatured Hemoglobin precipitates within RBCs due to oxidative stress

Bite cells - result from the phagocytic removal of Heinz bodies by splenic macrophages (think, “Bite into some Heinz ketchup”)

pg 75

30
Q

Disorders of carbohydrate breakdown:

What are the enzymes deficient in fructose intolerance and classic galactosemia?

A

Fructose intolerance: Aldolase B

Classic Galactosemia: Galactose-1-phosphate uridyltransferase

Fructose is to Aldolase B as Galactose is to UridylTransferase (FAB GUT)

pg 76

31
Q

Maple Syrup Urine Disease

enzyme deficiency, and what substrate builds up?

A

Decreased levels of branched-chain alpha keto-acid dehydrogenase (B1)

Blocked degradation of branched chain amino acids (Isoleucine, Leucine, Valine)

Think: I Love Vermont Maple Syrup from maple trees (with B1ranches)

pg 80

32
Q

Clinical presentation of homocysteinuria

Hint: mnemonic is HOMOCYstinuria

A

Excess homocysteine causes:

Homocysteine in urine

Osteoporosis

Marfanoid body habitus

Ocular changes (downward and inward lens subluxation)

Cardiovascular effects (thrombosis and atherosclerosis)

kYphosis, intellectual disability

pg 80

33
Q

What substrate(s) build up in cystinuria?

Hint: mnemonic is COLA

A

Cysteine

Ornithine

Lysine

Arginine

pg 81

34
Q

Glycogen Storage Diseases

(Name the 4 types)

Hint: mnemonic is Very Poor Carbohydrate Metabolism

A

type 1: Von Gierke Disease

type 2: Pompe Disease

type 3: Cori disease

type 5: McArdle Disease

(note: first aid doesn’t even say wtf type 4 is…)

pg 83

35
Q

Clinical presentation and deficient enzyme

VonGierke Disease

A

VonGierke Disease

Clinical presentation: increased glycogen in liver, increased blood lactate, increased triglycerides, increased uric acid (gout), and hepatomegaly

Deficiant enzyme: Glucose 6-phosphate

pg 83

36
Q

Clinical Presentation and deficient enzyme

Pompe disease

A

Pompe disease

Clinical presentation: cardiomegaly, hypertrophic cardiomyopathy, hypotonia, exercise intolerance, and systemic findings lead to early death

Deficieny enzyme: Lysosomal acid alpha 1,4 glucosidase

PomPe trashes the PumP (1,4)

pg 83

37
Q

Clinical Presentation and deficient enzyme

McArdle Disease

A

McArdle disease

Clinical presentation: increased glycogen in muscle that can’t be broken down –> painful Muscle cramps, Myoglobinuria (red urine) with strenuous exercise

Deficient enzyme: skeletal muscle glycogen phosphorylase (Myophosphorylase)

McArdle = Muscle

pg 83

38
Q

Tay-Sachs Disease

Deficient enzyme and clinical presentation

A

TAy-SaX disease

Clinical presentation: progressive neurodegeneration, developmental delay, “cherry-red” spot on macula, lysosomes with onion skin, no hepatosplenomegaly (vs. Neimann-Pick)

Deficient Enzyme: HeXosaminidase A

pg 84

39
Q

Niemann Pick Disease

Clinical Presenation and deficient enzyme

A

Niemann Pick Disease

(No Man Picks his nose with his Sphinger)

Clinical Presenation: Progressive neurodegeneration, hepatosplenomegaly, foam cells (lipid laden macrophages), cherry-red spot on macula

Deficient enzyme: sphingomyelin

40
Q

Hunter Syndrome

Clinical Presentation, Deficient enzyme, and mode of transmission

A

Hunter syndrome

Clnical presentation: Developmental delay, gargoylism, airway obstruction, aggressive behavior, NO corneal clouding (vs Hurler syndrome)

Deficient enzyme: Iduronate sulfatase

Mode of Transmission: X-linked recessive

Hunters see clearly (no corneal clouding) and aim for the X

pg 84

41
Q
A