GN 2.1.3 Flashcards
- Low intracellular Ca2+ causes increased proliferation of PKD cells in response to cAMP.
A. True
B. False
Answer is A. This is an extremely significant finding made by Drs. Calvet, Wallace and Grantham.
1. A neoplasm is a result of abnormal cell: A. Proliferation B. Apoptosis C. Senescence D. Fluid secretion
A. Proliferation
34. Which ciliopathy does this child have? (Radiographs show skeletal defects) A. Joubert Syndrome B. Jeune Syndrome C. Bardet Biedl Syndrome D. Meckel Syndrome
Answer is B. The radiographs show skeletal defects. Jeune Sydrome is among the ciliopathies with skeletal dysplasia.
- What does VHL encode?
A. Transcription factor B. Tumor Suppressor C. Ciliary protein D. B and C E. All of the above
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.
Which type of motors actively move to the + end? A. Kinesins B. Dyneins C. Myosins D. None of the above
A
7. Where are cilia found? A. Eye B. Heart C. Kidney D. All of the above
D. All of the above (It’s a great Maino song, probably his only great song)
- 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
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.
- cAMP causes increased proliferation of cells.
A. True
B. False
Trick question. (In normal cells, cAMP does not cause increased proliferation. cAMP only causes increased proliferation of PKD cells.)
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
Answer is C. Obesity is a cardinal feature of BBS.
- “All cancers are neoplasms.
A. True
B. False
A. True
- 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. Encephalocele, renal cysts, polydactyly
- 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
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.
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
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.
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
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.
- “All neoplasms are cancers.
A. True
B. False
B. False