Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Brain in Health & Disease > L3 - Lysosomal Storage Disease > Flashcards

L3 - Lysosomal Storage Disease Flashcards

You may prefer our related Brainscape-certified flashcards:
The Brain flashcards
1
Q

Features of LSD?

A
  • Rare, 1/8000 live births
  • Death in childhood
  • Store material in lysosome due to defects in substrate degradation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Features of the lysosome

A
  • 70 hydrolytic enzymes
  • low pH (4)
  • Enzymes trafficked to it via M6P receptor pathway
  • Material trafficked by endocytosis or autophagy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What problem does the neuron create for endocytosis?

A

Trafficking problem in that lysosomes not present at synapse

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is M6P?

A

Mannose-6-phosphate group added to hydrolases destined for lysosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What are the steps in the M6P pathway?

A
  • Added to hydrolases through Golgi
  • Recognised by M6PRs and deliver to late endosome
  • Low pH causes dissociation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What are the general cellular phenotypes of LSD?

A 
Swollen
Accumulation of ageing pigment
Defects in autophagy
Appearance of meganeurites
Excessjve synaptogenesis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are the features of mucopolysaccharides?

A

High rigidity
Lubricator
Component of cell membranes
Mutation causes defective metabolism and accumulation of GAGs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What does MPS stand for and what is it?

A

Mucopolysaccharidoses

Accumulation of secondary storage substrates

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Features of Sanfilippo Syndrome (MPS III)

A

Cannot break down Heparan sulphate

Most common MPS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What are the symptoms of Sanfilippo Syndrome?

A

Hyperactivity
Speech delay
Mental retardation
Bone defects

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

How can you screen for Sanfilippo Syndrome?

A

GAGs in urine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is mucolipidosis-II also known as?

A

I-Cell disease or Psuedo-Hurler

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What are the symptoms and occurrence of I-Cell disease?

A

Developmental delay, death early

1/640000 live births

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is the genetic defect of I-Cell disease?

A

N-acetylglucosaminyl-1-phosphotransferase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What are the internal symptoms of I-Cell disease?

A

I = Inclusion so stored material is mucolipds, MPS and schingolipids

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What are the internal symptoms of Mucolipidosis-IV

A

Stored material = mucolipids, MPS, sphingolipids

17
Q

What is the occurance and symptoms of Mucolipidosis-IV

A

Occurrence - Jewish 1/90

Symptoms - physchomotor retardation, corneal opacity, retinal degeration, iron definiency, improper stomach pH

18
Q

What is the genetic defect of Mucolipidosis-IV?

A

Mucolipin1 and a TRP channel involved in iron efflux from lysosomes

19
Q

What is important about spingolipids?

A

A major component of neural tissue and binds cholesterol

20
Q

What is the usual path of sphingolipids in a cell?

A

Patches on membrane endocytosed then recycled by TGN

Small amount leak out and are degraded

21
Q

What is the path of sphingolipids in LSD?

A

Schingolipids and cholesterol routed mainly to lysosome, swamping them

22
Q

What are the Symptoms and occurrence of Tay-Sachs disease?

A

Early death, neurological deterioration (ataxia, atrophy, spasticity)
1/27 in Ashkenazim Jews, Cajuns

23
Q

What is the genetic defect causing Tay-Sachs disease?

A

Hexosaminidase A (HEXA)

24
Q

What are the internal symptoms of Tay-Sachs disease?

A

GM2 gangliosides, globosides and glycolipid build up

25
Q

What are the symptoms and occurrence of Niemann-Pick disease?

A

Enlarged liver, and lymph nodes, darkening of skin, neurologic impairment, cherry red spot
Occurrence 1/1000 Ashkenazim Jews

26
Q

What is the genetic defect for Niemann-Pick disease?

A

Mutant for sphingomyelinase

27
Q

What are the internal symptoms of Niemann-Pick disease?

A

Build up of sphingomyelin, cholesterol and sphingolipids

Causes endosomal traffic jam

28
Q

What are all the features of Batten disease?

A

Defect - CLN genes 1-8
Occurrence - 1/8000
Symptoms - visual defects, seizures, loss of sight speech and motor skills, dementia
Storage material - lipofuscin

29
Q

What are some possible treatments of LSD?

A

Enzyme replacement
Gene therapy
Substrate reduction
Neuronal stem cells

30
Q

What is spinster?

A

A gene identified for synaptic growth in drosophila (synapses overgrown in mutant)
12 transmembrane transporter

31
Q

Where does spinster localise?

A

To a low pH late-endosomal compartment with lysomal associated membrane protein (LAMP)

32
Q

What does spinster cause intracellularly?

A

Expanded endosome and multi-lamellar inclusions

33
Q

Whats a good way of detecting sphingolipids?

A

Filipin is a fluorescent antibiotic that binds cholesterol

34
Q

What does spinster do and how can it be rescued?

A

Bears an oxidative stress burden.

Reducing oxidative stress rescues synaptic overgrowth

35
Q

What is activated in spinster and what does blocking this do?

A

AP-1 cascade (oxidative stress)

Blocking inhibits synapse overgrowth in mutant

Brain in Health & Disease (9 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions