L21: Ciliopathies

Question 1

NOTCH gene

Answer 1

Maintains progenitor self-renewal cell state

Question 2

FOXJ1

Answer 2

Transcription factor important in differentiation into mature motile ciliated cell

Question 3

Define: Dynein Arm

Answer 3

a structure extending clockwise from one tubule of each of the nine doublet microtubules toward the adjacent doublet in the axoneme of cilia

Question 4

Protein responsible for anterograde transport within cilia

Answer 4

Kinesin-2

Question 5

Mechanisms for cyst formation in cystic kidney diseases

Answer 5

Mutations in polycystin-1/2 which lead to altered mechanosensation by tubular cilia or altered calcium flux, both leading to altered tubular epithelial growth and differentiation. This may then cause abnormal extracellular matrix, cell proliferation and/or fluid secretion

Question 6

Inability of abnormal cilia to detect luminal flow leads to

Answer 6

Decrease in calcium transport. Abnormal calcium flux leads to epithelial proliferation due to defective cell signaling.

Question 7

Hydrocephalus

Answer 7

More than one ciliated cell type affected - motile and non-motile - dynein heavy chain loss caused abnormal cilia ultrastructure and leads to hydrocephaly.

Question 8

The choroid plexus epithelium have which type of cilia

Answer 8

9+0 sensory cilia (regulate CSF production)

Question 9

The ependyma have which type of cilia?

Answer 9

9+2 cilia (circulate CSF)