Lect 5-6, Ion flux/Cell Struct

Question 1

Cystinuria
-Autosomal recessive
-Defect in uptake of:
1. \_\_\_\_\_\_
2. \_\_\_\_\_\_, \_\_\_\_\_, and \_\_\_\_\_
---> Causes: \_\_\_\_\_\_\_
Symptoms: \_\_\_\_\_\_\_

Answer 1

1. Dimeric cystine
2. Diabasic Arg, Lys, Ornithine
   - —> cystine crystal formation

Symptoms: Renal colic (waves of abdominal pain)

Question 2

Hartnup Disease
- Defect in \_\_\_\_\_\_ of \_\_\_\_\_ \_\_, specifically the molecule \_\_\_\_\_\_\_
-Manifests during \_\_\_\_\_
Symptoms: 
1. \_\_\_\_\_
2. \_\_\_\_\_\_\_
3. photosensitivity
4. Intermittent ataxia

Answer 2

• Defect in transporter for nonpolar AA’s, specifically Tryptophan
• Manifests during infancy

Symptoms:

1. Failure to thrive
2. Nystagmus

Question 3

Cardiotonic Drugs:

-Inhibit _____ on cardiac myocytes, which increases intracellular __ and __, leading to a stronger contraction

Answer 3

• Inhibit Na/K Pump

- increases intracellular Na and Ca, giving a stronger contraction

Question 4

Cystic Fibrosis
-Caused by defect in CFTR gene, leading to a loss of a _____ residue in the protein

Problem: __ cannot enter cell and builds up in the _____ and ____ ____.
This increases viscosity making it hard to breath, and allows for the ___ test.

Answer 4

-Defect in CFTR gene, causing loss of Phe residue.

Problem: Cl- cannot enter cell and builds up in the airways and sweat ducts.
This increases viscosity making it hard to breath, and allows for the sweat test (tests for Cl- in sweat).

Question 5

What is the purpose of mannose-6-phosphate?

Answer 5

It is the golgi’s “tag” for a vesicle that needs to be sent to a lysosome. It gets recycled, not destroyed!

Question 6

What does clatherin do?

Answer 6

Coats vesicles for endocytosis, important for neuro cells and also for transporting vesicles to lysosomes

Question 7

COP1 protein (coat protein 1) transport products between: ______

Answer 7

-Different stacks of the golgi only

Question 8

COP2 protein: transport products between: _____

Answer 8

The ER and the golgi

Question 9

What is the purpose of dynamin?

Answer 9

Dynamin snips off vesicles that have formed on the plasma membrane (invaginated coated pit), both incoming and outgoing

Question 10

Charcot-Marie-Tooth Disease

• Caused by a mutation in _____ gene
• Affects _____ nerve conduction

-Buzz word: ____________

Answer 10

• Caused by mutation in Dynamin-2 gene
• Affects peripheral nerve conduction
• Buzz word: “champaign bottle appearance” of lower extremities

Question 11

Centronuclear Myopathy

-Use word to figure it out

Answer 11

Means “pathology of skeletal muscle” ; It’s a general atrophy of skeletal muscle

Question 12

1. Primary lysosomes, think:
   ____ and _____
2. Secondary lysosomes, think:
   ____ and ______

Answer 12

1. Primary = inactive enzymes, homogenous

2. Secondary = active enzymes, heterogenous (pH

Question 13

Familial Hypercholesterolemia

• Mutation in the ____ gene
• Elevated ___ levels lead to ______ _____

Answer 13

• Mutation in LDL-R gene = cannot bind to LDL well

- Elevated LDL levels lead to atherosclerotic plaques

Question 14

Zellweger Syndrome

• Absence of _____ in cells
• Characterized by ______, hearing/vision loss, and seizures
• What stage of life?

Answer 14

• Absence of peroxisomes in cells
• hypotonia (weak muscle tone), hearing/vision loss, and seizures
• At birth, usually causes death within a year of life

Question 15

Mitochondrial DNA is associated with what degenerative factors:

1. ___
2. _____

Answer 15

1. Aging
2. Neurodegeneration
   - -ROS inc with age and damage mt. DNA (esp brain cell mitochondria)