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Cystic Fibrosis genetics > CF > Flashcards

CF Flashcards

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Biology 101 flashcards
1
Q

Cystic fibrosis has what type of inheritability?

A

Autosomal recessive

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2
Q

What gene is affected in CF?

A

Cystic Fibrosis Transmembrane conductance Regulator (CFTR)

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3
Q

CFTR encodes for what protein?

A

Chloride ion channel

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4
Q

Where does CF rank on the list of life-shortening genetic diseases?

A

Second only to sickle cell

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5
Q

What organ has the most serious consequences with CF?

A

Lungs

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6
Q

Besides the lungs, what other organs are affected by CF? Other issues?

A

Exocrine pancreas, intestine

Sweat glands, urogenital dysfunction

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7
Q

Where is the CFTR gene located?

A

On the long arm of chromosome 7

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8
Q

What is the most common mutation causing CF?

A

F508 delta

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9
Q

Why is it important to know which mutation is the most likely cause?

A

Treatment/therapies

Diagnosis

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10
Q

Which ethnic group has the highest rate of CF?

A

Caucasians > Hispanic > African

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11
Q

What are the three domains of the CFTR gene/protein?

A

Membrane Spanning Domains (MSD)
Nucleotide Binding Domains (NBD)
Regulatory Domain (R)

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12
Q

What is the role of the MSDs?

A

Form a pore for the chloride ions

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13
Q

What is the role of the NBDs?

A

Provide binding site for ATP –> necessary for open conformation

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14
Q

What is the role of the R domain?

A

Can be phosphorylated by PKA –> necessary for open conformation

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15
Q

There are three more severe CFTR mutations: what causes class 1?

A

Nonsense mutation –> mRNA is degraded –> no protein produced

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16
Q

There are three more severe CFTR mutations: what causes class 2?

A

Defective protein folding –> activated ER quality control –> degradation of protein

17
Q

There are three more severe CFTR mutations: what causes class 3?

A

Defective gating or regulation of channel opening

18
Q

Which class does the F508delta mutation fall under?

A

Class 2

19
Q

Besides F508delta, what are some common mutations that cause CF?

A 
G542X (class 1)
G551D (class 3...more time in closed conformation)
20
Q

In the CFTR gene, where does the F508delta mutation occur? What is the effect of the mutation?

A

Mutation is in NBD1 –> incorrect folding –> incorrect interactions w/ other domains

21
Q

What is the net cellular effect of normal CFTR?

A

Outflow of water…increased EC [Cl-] and inhibited ENaC

22
Q

What is not maintained in the lungs due to CF?

A

Airway Surface Liquid (ASL)

23
Q

Why is properly maintained ASL important?

A

Clearance of mucous…activity of cilia and hydration of mucous

24
Q

What is the key clinical manifestation of CF?

A

Pseudomonas aeruginosa pneumonia

25
Q

Besides pseudomonas aeruginosa, what other bacteria commonly cause infections in CF patients?

A

H. influ
Staph. a
Burkholderia cepacia
Aspergillus fummigatus

26
Q

What are some treatment options for the lungs of CF patients?

A 
Chest physiotherapy (improves drainage)
Antibiotics

Also: hypertonic saline aerosol, anti-inflammatories, DNase aerosol

27
Q

Which pancreatic cells express CFTR?

A

Epithelial cells

28
Q

What can happen to the pancreas of CF patients?

A

Blocked duct –> retention of enzymes –> tissue destruction

29
Q

Where are intestinal cells express that CFTR?

A

In crypts of epithelium

30
Q

What can happen to the intestine of CF patients?

A

Failure to secrete water –> dehydration of lumen –> viscous mucous –> obstruction, inability to absorb protein/fat, susceptible to cancer

31
Q

What is usually missing in male CF patients?

A

Vas deferens

32
Q

Why is the “sweat test” definitively diagnostic of CF?

A

Sweat gland CFTR is the opposite of others…usually promotes uptake of Cl-

Cannot uptake NaCl –> increased salt in sweat

33
Q

Who should undergo carrier screening?

A

All individuals planning a pregnancy
All newborns
Family members of CF patients

34
Q

What drug keeps CFTR channel open longer/more often?

A

Ivacaftor

35
Q

Which CF mutations does Ivacaftor treat?

A 
Mostly G551D (class 3)
Also keeps any available open...helping with any form of CF (including F508delta)
36
Q

Which drugs promote trafficking of F508delta CFTR to the cell surface instead of degradation?

A

VX-809 and VX-661

Work best with Ivacaftor

37
Q

What is the effect of Ataluren?

A

Ribosomes are less sensitive to stop codons –> correct for premature stop codon mutations–G542X CF (class 1)

Cystic Fibrosis genetics (1 decks)

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