Clinical

Question 1

What has a direct stimulatory effect on adenylyl cyclase?

Answer 1

forskolin

Question 2

What is something that inhibits phosphodiesterase?

Answer 2

caffeine

Think: some people may DIE without caffeine. (phosphoDIEsterase)

Question 3

What signaling molecule is a:

a) β-adrenergic receptor agonist
b) β-adrenergic receptor antagonist

Answer 3

a) isoproterenol

b) propranolol

Question 4

Loss or gain of function mutations in Gsα can be caused by what?

(don’t think too specific)

Answer 4

rare endocrine disorders

Question 5

What enters intestinal epithelial cells and induces covalent modification of Gsα, blocking its intrinsic GTPase activity? (Note: this causes Gs to stay constantly active.)

Answer 5

cholera toxin

Question 6

What toxin covalently modifies Gαi to stay in the GDP form?

Answer 6

pertussis toxin

Question 7

What channel has binding sites for both drugs and toxins?

Answer 7

Voltage-gated Calcium channel

Question 8

What drug inhibits ryanodine receptors?

Answer 8

ryanodine

Question 9

What are two examples of drugs that bind to specific steroid hormone receptors, blocking the actions of that hormone? And to which receptors are these drugs an antagonist for?

Answer 9

flutamide: androgen receptor antagonist

RU486: progesterone receptor antagonist

Question 10

What is the disease?
-results from ND problem in MI or MII, most common retardation, flat nasal bridge, low set ears, protruding tongue, Brushfield spots, short, transverse palmar crease, clinodactyly, heart problems, premature Alzheimer’s, and incr. risk of leukemia; males infertile

Answer 10

Trisomy 21 or Down Syndrome

Question 11

What are the different ways that Down syndrome can be transmitted?

Answer 11

meiotic ND (most)
unbalanced Robertsonian translocation or isochr. 21 (hereditary)
trisomy mosaics (can be hereditary)
duplication

Question 12

What is the disease?
clinically severe, lethal in almost all cases by 6 mos. of age, 1/2 die by 1st month; maternal MI ND; advanced maternal age is an issue; severe CNS issues, growth and mentally retarded, cleft lip and palate, ocular issues, polydactyly, clenched fists, and rocker-bottom feet

Answer 12

Trisomy 13

Kids are teenagers at age 13. They increasingly get mad at their parents, clenching their fists while doing so.

Question 13

What is the disease?
postnatal survival poor, mental retardation, failure to thrive, heart problems, hypertonia, clinched fists w/ overlapping fingers in specific pattern, rockerbottom feet, and distinctive dermal patterns

Answer 13

Trisomy 18

Teens are adults at 18. Not only do they clinch their fists when they get mad, but now they use the finger too. (Trisomy 18, clinched fists w/ specific finger pattern.)

Question 14

What three diseases have an increased risk of occurring as maternal age also increases?

Answer 14

Trisomies 21, 13, and 18

Question 15

What is the disease?
XXY if not more X’s, wide range of sexual development and intelligence, tall and lanky, larger breasts, can be mosaic inheritance, nonmosaics are sterile

Answer 15

Klinefelter Syndrome

Question 16

What is the disease?

tall but normal male, behavioral problems, paternal ND at MII

Answer 16

47 XYY Syndrome

Question 17

What is the disease?

normal fertile female, above average stature, learning problems, maternal MI errors

Answer 17

Trisomy X (47, XXX)

Question 18

What is the disease?
female, short, webbed neck, shield chest, infertile, normal intelligence, rare behavior issues, no Barr body, all X-linked recessive alleles expressed, usually results from loss of X or Y from Dad

Answer 18

Turner Syndrome (45, X)

Question 19

What reciprocal translocation chromosome causes chronic myelogenous leukemia?

Answer 19

Philadelphia chr.; 9q22q

Question 20

What is the disease?

terminal deletion on 4p chr., severe mental retardation, failure to thrive, very rare

Answer 20

Wolf-Hirschhorn syndrome

Question 21

What is the disease?
terminal deletion on 5p, microcephaly, micrognathia, hypertelorism, high pitched distinctive “mewing” cry, severe mental retardation, very rare

Answer 21

Cri-du-chat Syndrome

Question 22

What is an example of a disease that results from a microdeletion?

Answer 22

DiGeorge syndrome; 22q11

Question 23

What is the disease?

tumors in eyes, ears, pancreas, kidney, brain, and spine

Answer 23

Von Hippel-Lindau

Think of Makenzie HATFIELD Kresch. Some of her kinfolk have tumors in their eyes. She wants to be an ophthalmologist, to help them out, obviously. I don’t know if we need to know this, but there you go.

Question 24

What is the disease?

tumors of the adrenal gland

Answer 24

pheochromocytomas

Again, think of Makenzie HATFIELD Kresch. I’m not coming up with a good mnemonic for this though.

Question 25

What is the disease? AD, renal cysts that lead to progressive renal failure and cysts in liver and pancreas, cerebral aneurysm, mitral valve prolapse, late onset in 40's and 50's

Answer 25

Polycystic Kidney Disease; caused by PKDI gene mostly; PKDII also runs fairly dominant in my family; no joke; good mnemonic though AR form exists

Question 26

What is the disease? AR, severe mental and physical deterioration, death by 2-3 years due to ganglioside buildup in neurons, cherry red spot on retina, prevalent in Ashkenazi Jews

Answer 26

Tay-Sachs

Question 27

What is the disease? AR, mental retardation, fair skin, eczema, epilepsy, preventable w/ prompt diet change upon diagnosis, prevalent in caucasians, mutations in liver enz. phenylalanine hydroxylase gene

Answer 27

PKU

Question 28

What is the disease? XR, coagulation disorder (inability to clot, leading to hemorrhaging into joints and muscles, even from minor injuries), mutation of clotting factor VIII

Answer 28

hemophilia A During the movie on hemophilia, we all wished that Delidow would eXit the room. (hemophilia: XR)

Question 29

What is the disease? XR, progressive muscle weakness, pseudohypertrophy of calf muscles, onset early in childhood, death by 30's, mutation in dystrophin gene

Answer 29

Duchenne muscular dystrophy Gene mutation gives it away, so does the "muscles getting weaker" part.

Question 30

What is the disease? XD, mental retardation, normal initial development followed by rapid decline in progression plus onset of ataxia and dementia from 18 mo.-3 yrs., seizures in half, methyl-CpG-binding protein 9 gene mutation

Answer 30

Rett syndrome Rhett Butler comes to mind. He loved his women. Rett syndrome affects females 2x as much.

Question 31

What is the disease? | XD, ability of kidney to reabsorb phosphate is decr., leading to a word that forms part of the disease name

Answer 31

hypophosphatemic rickets (Vitamin D resistant rickets)

Question 32

Rett syndrome and hypophosphatemic rickets are both X-linked dominant. What is a third disease that follows the same inheritance pattern?

Answer 32

hypertrichosis Tri = 3, third disease of XD

Question 33

What is the disease? mitochondrial; rapid, bilateral loss of central vision due to optic nerve death in young adults; affects both sexes, more severe in males; rare

Answer 33

Leber's hereditary optic neuropathy (LHON)

Question 34

What is the disease? | mitochondrial, external ophthalmoplegia, pigmentary degeneration of retina and cardiomyopathy, rare, onset before age 20

Answer 34

Kearns-Sayre syndrome (KSS)

Question 35

LHON and KSS are mitochondrial inherited diseases. What is another disease with the same inheritance pattern?

Answer 35

myoclonic epdepsy and ragged red fiber disease (MERFF)

Question 36

Positional cloning was used to find the causative gene of what disease? Hint: It's inherited AR and its clinical triad is exocrine pancreatic insufficiency, COPD, and an incr. in Na and Cl conc. in sweat.

Answer 36

Cystic Fibrosis, caused by mutation in CFTR gene

Question 37

What drug stabilizes microtubules, prevent disassembly? This interferes with the ability of the microtubules to align the chromosomes on the metaphase plate and to move chromosomes to spindle poles. For this reason, it has been used as a chemotherapy agent to prevent proliferation of cancer cells.

Answer 37

paclitaxil (taxol)

Question 38

What diseases have excessive/inappropriate apoptosis? | spells CAINE

Answer 38

``` cardiovascular disease AIDS immune deficiency diseases neurodegenerative diseases emhysema ```

Question 39

What diseases have too little apoptosis?

Answer 39

cancer | autoimmune diseases

Question 40

What is the disease? AD, pigmentary disturbance, wide nasal bridge, cochlear deafness, PAX-3 gene; mutations: truncation, splicing abnormalities, inactivation of DNA binding region, deletions, and insertions

Answer 40

Waardenburg syndrome

Question 41

The following diseases are examples of what kind of mutations in regulatory proteins? most common is Alu; hemophilia A/B, SCID, porphyria, predisposition to cancer, and Duchenne muscular dystrophy

Answer 41

transposons

Question 42

What is an example of a tandem (triplet) repeat expansion disease?

Answer 42

Huntington disease

Question 43

Blue color insensitivity (AR) and people with no green sensitivity (X) are examples of what kind of mutation?

Answer 43

loss of function

Question 44

Familial hypercholesterolemia is inherited AD. Half of the LDL receptors are mutated. Unfortunately, presence of half good receptors is still not enough for an individual with this condition to function normally. What is the term for this?

Answer 44

haploinsufficiency

Question 45

What is a disease where there is an overexpression of the gene? What is a disease where there is inappropriate expression of the gene? Both of these diseases are categorized under what mutation?

Answer 45

Charcot-Marie-Tooth hereditary persistence of fetal Hemoglobin gain of function

Question 46

What disease results in a novel protein product, a form of gain of function mutation?

Answer 46

chronic myelogenous leukemia, protein is BCR-ABL 9q22q chr., called Philadelphia chr.

Question 47

What is an example of a disease that is a dominant negative?

Answer 47

osteogenesis imperfecta

Question 48

Rh(+) and Rh(-) are examples of what?

Answer 48

polymorphisms

Question 49

What disease is an example of dosage sensitivity? How are the different forms inherited?

Answer 49

Charcot-Marie-Tooth 1A: AD, dup of PMP22 on chr.17 1B: AD, del in PMP22 (aka as HNPP, irreg. thickening of myelin sheath; episodic, recurrent demyelinating neuropathy) 3: AR, point mutations in PMP22 (aka DSS, very severe, infancy)

Question 50

Some genes like β-globin are small, while others are large like Factor VIII. HGPRT falls in between these two. Mutations of these genes lead to what three diseases?

Answer 50

hemoglobinpathies hemophilia A Lesch-Nyhan Syndrome

Question 51

What two diseases are examples of allelic heterogeneity?

Answer 51

Alpers syndrome (mitochondrial depletion syndrome) Charcot-Marie-Tooth

Question 52

What condition is an example of locus heterogeneity?

Answer 52

hearing loss

Question 53

What disease is an example of clinical heterogeneity? What is the phenotype that varies depending on the mutation?

Answer 53

cystic fibrosis; FEV1

Question 54

What is the disease? AR or AD, displays locus, allelic, and clinical heterogeneity and dosage sensitivity, demyelination, loss of PNS motor and sensory neurons that are connected to muscles and sensory receptors, weakening of muscles of arms, legs, and decrease in responses to touch, pain, temp., and vibration in hands and feet

Answer 54

Charcot Marie Tooth who would've guessed...

Question 55

What two diseases are examples of imprinting? Think of Pier Paolo. Don't you dare miss this...

Answer 55

Angelman Syndrome: unusal facial appearance, short, severe mental retardation, spasticity, seizures, maternal deletion of 15q11-13 Prader-Willi Syndrome: obesity, small hands and feet, short, hypogonadism, mental retardation, paternal deletion of 15q11-q13

Question 56

Reactivating apoptosis is the target of cancer treatment strategies. What are four such examples?

Answer 56

BH3 mimetics, XIAP antagonists, FasL mimetics, and Fas activators