GN 2.1.3 Flashcards

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1
Q
  1. Low intracellular Ca2+ causes increased proliferation of PKD cells in response to cAMP.

A. True
B. False

A

Answer is A. This is an extremely significant finding made by Drs. Calvet, Wallace and Grantham.

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2
Q
1.   A neoplasm is a result of abnormal cell:

A.  Proliferation
B.  Apoptosis
C.  Senescence
D.  Fluid secretion
A

A. Proliferation

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3
Q
34.  Which ciliopathy does this child have? (Radiographs show skeletal defects)

A.  Joubert Syndrome
B.  Jeune Syndrome
C. Bardet Biedl Syndrome
D. Meckel Syndrome
A

Answer is B. The radiographs show skeletal defects. Jeune Sydrome is among the ciliopathies with skeletal dysplasia.

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4
Q
  1. What does VHL encode?
A. Transcription factor
B. Tumor Suppressor
C. Ciliary protein
D. B and C
E.  All of the above
A

Answer is D. VHL encodes a tumor suppressor that localizes to cilia. VHL acts in a protein complex to regulate HIF (hypoxia-inducible factor) activity.

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5
Q
Which type of motors actively move to the + end?

A.  Kinesins
B. Dyneins
C. Myosins
 D. None of the above
A

A

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6
Q
7.  Where are cilia found?

A. Eye
B. Heart
C. Kidney
D. All of the above
A

D. All of the above (It’s a great Maino song, probably his only great song)

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7
Q
  1. What do PKD1, PKD2 and VHL have in common?
A. Mutations cause renal cell carcinoma
B. Mutations cause renal cysts
C. Gene products localize to cilia
D. Cause disease that are autosomal dominant
E. B, C and D
F.  All of the above
A

Answer is E. PKD1 and PKD2 mutations cause ADPKD, while VHL mutations cause VHL. Both diseases are autosomal dominant, manifest renal cysts. And all gene products normally localize to primary cilium.

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8
Q
  1. cAMP causes increased proliferation of cells.

A. True
B. False

A

Trick question. (In normal cells, cAMP does not cause increased proliferation. cAMP only causes increased proliferation of PKD cells.)

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9
Q
33.  Which ciliopathy does this child have? (Pictures of an obese child with polydactyly)

A.  Joubert Syndrome
B.  Jeune Syndrome
C. Bardet Biedl Syndrome
D. Meckel Syndrome
A

Answer is C. Obesity is a cardinal feature of BBS.

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10
Q
  1. “All cancers are neoplasms.

A. True
B. False

A

A. True

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11
Q
  1. What is the clinical triad of Meckel Syndrome?

A. Encephalocele, renal cysts, polydactyly
B. Heart Defects, infertility, situs inversus
C. Renal cysts, obesity, skeletal dysplasia

A

A. Encephalocele, renal cysts, polydactyly

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12
Q
  1. A 15-year-old patient shows hypertension. Family history includes: arthritis, ADPKD, Alzheimer’s, diabetes.

Which disease would you consider first?

A. Arthritis
B. ADPKD
C. Alzheimer’s
D. Type 2 Diabetes

A

Answer is B. All diseases listed are adulthood diseases. However, in ADPKD, cyst formation often forms in the fetal period, but cysts are very small and are often not detected. Instead, the first clinical manifestation of ADPKD is often hypertension that can occur in the teenage or early adult years.

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13
Q
17.    Which structure is used for both cilium formation and cell division?

A.  Basal Body
B.  Mother Centriole
C.  Nucleus
 D. A and B
E. All of the above
A

Answer is D. The base of the primary cilium is called the basal body, and is the mother centriole. Since centrioles are required for cell division, the utilization of the mother centriole to sprout primary cilia inhibits cell division.

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14
Q
18.    At what stage of the cell cycle does the primary cilium sprout?

A.  G1
B.  S
C.  Mitosis
D. A and B
E. All of the above
A

Answer is A. Cilia can only sprout in G1 or G0 phase, when cells are not dividing. This is because the cilium uses the mother centriole for its basal body.

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15
Q
  1. “All neoplasms are cancers.

A. True
B. False

A

B. False

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16
Q
  1. Which pedigree(s) most accurately reflects inheritance of Primary Ciliary Dyskinesia?
    A. Autosomal Dominant
    B. Autosomal Recessive
    C. X-linked Recessive
A

Answer is B. Primary Ciliary Dyskinesia is the only motile ciliopathy. It is also known as Kartagener Syndrome. It is autosomal recessive.

17
Q
5.  A defect in which of the following cellular structures does not result in a neoplasm.

A. Ribosome
B. Motile cilia
C. Primary cilia
D. Nucleus
A

B. Motile Cilia
(The answer is B. In unicellular organisms, such as Chlamydomonas, flagella, which are motile cilia, propel the alga forward. In mammals, the sperm tail is a motile cilium which propels the sperm. In other cells of mammals, motile cilia are found in clumps and are required to either beat dust particles, fluid or molecules. Disruption of these motile cilia will result in build up of dust particles in the trachea for instance, which can lead to respiratory infection, or to fluid build up in the brain, leading to hydrocephalus. Dysfunction of motile cilia will NOT cause a neoplasm.)

18
Q
  1. The + end of microtubules is at the…

A. ciliary base
B. ciliary tip

A

B

19
Q
  1. If proteins not normally present in cilia are present, which structure is primarily affected?
A. Axoneme
B. Centriole
C. Transition zone
D. Ciliary membrane
E.  Basal body
A

Answer is C. The transition acts as the ciliary gate, determining which proteins are allowed into the cilium.

20
Q
13.    Which of the following are clinical features of Primary Ciliary Dyskinesia?

A. Renal cysts
B. Hypertension
C.  Heart Defects
D. All of the above
E. None of the above
A

Answer is C. Primary Ciliary Dyskinesia (PCD) is a motile ciliopathy. This can affect laterality, which often leads to heart defects. Renal cysts and hypertension are caused by non-motile ciliopathies.

21
Q
19.    Which of the following are clinical features of a ciliopathy?

A.  Renal fibrosis
B.  Renal cysts
C.  Renal carcinoma
D. All of the above
E. None of the above
A

Answer is D. Among the most common clinical features of ciliopathies are renal cysts. This is accompanied by varying degrees of renal fibrosis. In VHL, renal cell carcinoma also results.

22
Q
6.  Ciliary core is primarily made up of:

A. Microtubules
B. Actin
C. Both
A

A. MT

23
Q
  1. ADPKD is affected by other genetic and environmental factors.
A. Strongly agree
B. Agree
C. Neutral
D. Disagree
E. Strongly disagree
A

A. Strongly agree (Although ADPKD is autosomal dominant, ADPKD shows a lot of variability in disease severity. Gender, genetic background, and environmental factors eg. infections, smoking, all affect ADPKD severity.)

24
Q
  1. What does Tolvaptan inhibit?

A. Arginine Vasopressin Receptor
B. Ca2+
C. CFTR
D. Renal Flow

A

Answer is A. Tolvaptan inhibits the arginine vasopressin receptor (AVR), which synthesizes cAMP. Inhibition of cAMP production should reduce both the increased proliferation and fluid secretion mechanisms in ADPKD.

25
Q
14.    Which cellular process is not affected by IFT?

A.  translation
B.  signaling
C.  proliferation
D. differentiation
E. None of the above
A

Answer is A. IFT is required for synthesis and maintenance of primary cilia. Primary cilia mediates signaling pathways, which in turn, can affect proliferation and/or differentiation of a cell. IFT does not regulate translation. Protein synthesis does not occur in the cilium. Rather ciliary proteins are made on ribosomes in cytoplasm and are then transported to the cilium.

26
Q
10.    Which organisms have cilia similar to human cilia?

A. Saccharomyces cerevisae (yeast)
B. Chlamydomonas reinhardtii (algae)
C. None of the above
A

B. Chlamydomonas reinhardtii (algae)

27
Q
  1. A distinguishing clinical feature of Joubert Syndrome is the Molar Tooth Sign. This is a developmental defect of the:

A. Heart
B. Molars
C. Cerebellum
D. Bone

A

Answer is C. Defective cerebellar development leads to the Molar Tooth Sign.

28
Q
4.  Renal cysts can be considered neoplasms.

A.  True
B.  False
C.  Perhaps
A

C. Perphaps
(A – yes, since renal cysts arise from aberrant proliferation of tubular epithelial cells and many of the pathways activated in cystic kidney disease are the same that are found in cancers
B – no, since renal cysts are not a mass of cells. Instead, the interior is filled with fluid.
C – perhaps, if justified with reasonings of A and B combined.)

29
Q
  1. Which pedigree(s) most accurately reflects inheritance of Polycystic Kidney Disease?
    A. Autosomal Dominant
    B. Autosomal Recessive
    C. All of the above
A

C.