What symptoms are present in cystic fibrosis (CF)?
What is CF characterized by?
Defective epithelial ion transport
What are the secretory consequences of having CF?
Where is the faulty CF gene located?
- Autosomal recessive
What chance is there that an offspring of carriers of CF develops CF?
25%
What chance is there that an offspring of carriers of CF does not develop CF?
75%
What does the CF gene code for?
CF transmembrane conductance regulator (CFTR)
What is the consequence of defective CFTR?
What is the mutation in the CF gene?
What are the underlying molecular mechanisms of CF?
70-80% of patients with CF lack what?
The receptor
What homeostasis is altered in CF?
Na+ and Cl- intracellular concentrations increase drastically
What causes salty skin in CF?
- As sweat rises in the cell in the CFTR duct, cells do not reclaim the NaCl
What are the accepted treatments for children and adults with CF?
What is happening in cancer cells that explains the large size of their nucleus and the relatively small amount of cytoplasm?
Actively dividing cells (such as cancer cells) are duplicating the amount of DNA within their nucleus, which explains why it is larger (as it takes more room)
What are symptoms of Tay-Sachs disease?
Why might the genetic test for mutations in the Tay-Sachs gene be more accurate than the test that detects decreased amounts of hexosaminidase A?
- The genetic test is a DIRECT measurement
Is CFTR a chemically-gated, a voltage-gated, or a mechanically-gated channel protein?
Chemically-gated since it binds to ATP, allowing the channel to open and transport Cl- out of epithelial cells and into the lumen
Why would failure to transport NaCl into the airways cause the secreted mucous to be thick?
Is CFTR protein on the apical or basolateral surface of the sweat gland epithelium?
The epithelial surface that faces the lumen of the sweat gland is the APICAL membrane
Why would an individual with cystic fibrosis require pancreatic enzymes to be taken whenever they eat?
Because the thick mucus in the pancreatic ducts block the secretion of digestive enzymes into the intestine
In which type of diabetes is the signal pathway for insulin more likely to be defective?
Type 2 diabetes
In which form of diabetes are the insulin receptors more likely to be up-regulated?
In the insulin reflex pathway, name the stimulus, sensor, integrating center, output signal, target, and response.