70 Biochem: Sphingolipidoses Flashcards
1
Q
Composition of of Neuronal Tissue
- Give the percentage of protein that makes up myelin, white matter, and gray matter
- Give the percentage of lipids that makes up myelin, white matter, and gray matter
A
2
Q
Sphingolipids
- What type of lipid is sphingomyelin?
- What does it look like
A
3
Q
Sphingolipids
- What is the difference between sphingosine and ceramide?
A
4
Q
Glycosphingolipids
- What are the 3 types of cerebrosides?
- What are the 3 other Glycosphingolipids?
- What does a glycolipid look like?
A
5
Q
Spingolipid Functions
- All Sphingolipids
- What are the stuctural functions of these?
- What are the signaling functions of these?
A
6
Q
Sphingolipid Functions
- Glycosphingolipids
- What are the 4 functions of these?
A
7
Q
Bioactive Sphinolipids
- What are the 5 cellular processes that ceramide is involved in?
A
8
Q
Bioactive Sphinolipids
- What is the 1 cellular process that sphingosine is involved in?
A
9
Q
Bioactive Sphinolipids
- What are the 5 cellular processes that S1P is involved in?
A
10
Q
Targeting of SLs in Drug Therapy
- What does FTY720 target?
- Is it an agonist or antagonist?
- What is it’s MOA?
- What does it do to lymphocytes
- What disease can this treat?
A
11
Q
Sphingolipidoses
- What disease is this associated with?
A
Tay Sachs
12
Q
Sphingolipidoses
- What disease is this associated with?
A
FabrY’s
13
Q
Sphingolipidoses
- What disease is this associated with?
A
Metachromatic Leukodystrophy
14
Q
Sphingolipidoses
- What disease is this associated with?
A
Krabbe’s
15
Q
Sphingolipidoses
- What disease is this associated with?
A
Gaucher’s
16
Q
Sphingolipidoses
- What disease is this associated with?
A
Niemann-Pick
17
Q
Sphingolipidoses
- What disease is this associated with?
A
FarBER’S
18
Q
Gaucher Disease
- What enzymatic reaction is altered?
A
19
Q
Gaucher Disease
- What acculamtes in this disease?
- How common is it?
- What organs enlarges?
- What happens to bones?
- When is CNS involved?
- Is there a therapy for this?
- Why do cells look like this?
A
20
Q
Gaucher Disease
- Type 1
- How common is this?
- Is this neuronopathic?
- What cells have storage ability?
- Can the enzyme be detected?
- Type II
- How common is this?
- Is this neuronopathic?
- Who does this affect?
- Can enzyme acticity be detected?
- Type III
- When is this identified?
- What is notable how it presents?
A
21
Q
Niemann Pick Disease
- What enzymatic reaction is altered in this?
A
22
Q
Niemann-Pick Disease
- Features of type A ONLY
- How much enzyme activity is present?
- Is this more serious than type B?
- What tissues/organs are affected?
- What is the prognosis like?
- Features of type B ONLY
- How much enzyme activity is present?
- Is this more serious than type A?
- What tissues/organs are affected?
- What is the prognosis like?
*
A
23
Q
Niemann-Pick Disease
- All Types
- What is seen in the macula?
- What group of people have an increased risk for this?
A
24
Q
Tay Sachs and Sandhoff
- What enzyme is affected and Tay-Sachs?
- What enzymes are affected in Sandhoff?
- What accumulates in both diseases?
- What occular symtms do patients have?
A
25
Tay Sachs and Sandhoff
* What accumulates?
* Who has a high risk for this
26
Farber Disease
* What accumaluates?
* What enzyme is deficient?
* What symptoms do patients have? (5)
27
Fabry Disease
* What inheritence pattern does it follow?
* What accumaluates?
* What enzyme is deficient?
* What symptoms do patients have? (5)
* Can this be treated?
28
Metachromatic Leukodystrophy
* What accumaluates?
* What enzyme is deficient?
* What additional molecule can be absent?
* What symptoms do patients have? (2)
* What deteriates?
* What do nerves look like?
29
Krabbe Disease
* What accumaluates?
* What enzyme is deficient?
* What symptoms do patients have? (4)
* What deteriates?
* What appears in the white matter?
