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Genetic Disorders - Lysosomal Storage Dz Flashcards

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1
Q

There is a link between lysosomal storage diseases in that they may cause?

A

Neurodegenerative diseases

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2
Q

What is primary accumulation?

A

Substrate catabolism cannot occur in lysosomes

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3
Q

With primary accumulation, lysosomes will?

A

Enlarge and interfere with normal cell function

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4
Q

What is secondary accumulation?

A

Impaired autophagy and an accumulation of autophagic substrates

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5
Q

Which type of accumulation is specifically correlated with neurodegenerative diseases?

A

Secondary accumulation

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6
Q

4 types of lysosomal storage diseases?

A

Sphingolipidoses
Sulfatidoses
Mucopolysaccharidoses
Glycogenoses

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7
Q

What is an example of a sphinolipidose lysosomal storage disease?

A

Tay-Sachs Disease

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8
Q

With Tay-Sachs Disease, what is unable to be broken down?

A

G(M2) Gangliosides

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9
Q

Where is the mutation and what enzyme is deficient with Tay-Sachs Disease?

A

Alpha subunit on chromosome 15

- Deficient HEXA

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10
Q

With Tay-Sachs Disease, where does G(M2) Gangliosides accumulate?

A

Retina, neurons, heart

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11
Q

What are the symptoms/stages of Tay-Sachs Disease?

A
    • cherry red spot on macula **
  • @ 6 months: motor/mental deterioration, blind, dementia
  • @ 1-2 years: Vegetative State
  • @ 2-3 years: Death
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12
Q

Which fat stains are positive with Tay-Sachs Disease?

A

Oil red O

Sudan Black

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13
Q

Lipid vacuole in neuron cytoplasm and whorled lysosomes are seen with what lysosomal storage disease?

A

Tay-Sachs Disease

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14
Q

What are 2 examples of Sulfatidose lysosomal storage diseases?

A

Niemann Pick Disease

Gaucher Disease

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15
Q

With Niemann Pick Disease, what is unable to be broken down?

A

Sphingomyelin

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16
Q

How is Niemann Pick Disease inherited?

A

Autosomal recessive on Mother’s Chromosome

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17
Q

Which chromosome is the mutation in for Niemann Pick Disease?

A

11p15.4 on mother’s chromosome

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18
Q

Most severe form of Niemann Pick Disease and symptoms

A

Type A - complete lack of sphingomyelinase

= Severe infantile form, neuro involvement, wasting, death by age 3

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19
Q

Least severe form of Niemann Pick Disease and symptoms

A

Type B

= Organomegaly, NO CNS INVOLVEMENT

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20
Q

Intermediate and most common form of Niemann Pick Disease and symptoms

A

Type C

= Neuro damage, ataxia, supranuclear gaze palsy

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21
Q

What gene is mutated with Niemann Pick Disease Type C and what does it do?

A

NPC1 - transports free cholesterol from lysosomes to cytoplasm

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22
Q

A majority of the Niemann Pick Disease patients have what enlarged organ and half have what?

Study These Flashcards
A

Splenomegaly

1/2 have cherry red spot on macula

23
Q

What do the cells look like with Niemann Pick Disease?

Study These Flashcards
A

Enlarged, FOAMY CYTOPLASM, Zebra bodies

24
Q

Foamy cytoplasm cells?

Study These Flashcards
A

Niemann Pick Disease

25
How is Gaucher Disease inherited?
Autosomal Recessive
26
With Gaucher disease, what is not broken down?
Glucocerebroside
27
With Gaucher disease, Glucocerebroside accumulates in what cells and then what do the cells release?
Phagocytes/macrophages | = Release IL-1, IL-6, TNF
28
Which lysosomal disease is the most common and is also the greatest genetic risk for parkinson's?
Gaucher Disease
29
Type 1 Gaucher Disease symptoms?
NO CNS involvement | = Spleen and bone symptoms
30
Type 2 Gaucher Disease symptoms?
Infantile cerebral pattern, progressive CNS involvement that leads to death
31
Type 3 Gaucher Disease symptoms?
Progressive CNS disease that does not begin until adolescence
32
Type 2 Gaucher Disease does NOT occur in which population?
Jewish
33
With what disease is the spleen usually heavier than 10kg, with thrombocytopenia?
Gaucher Disease
34
What do the cells look like with Gaucher disease?
Crumpled tissue cytoplasm, distended phagocytic cells
35
How are most Mucopolysaccharidoses (MPS) inherited and which one is not inherited that way?
Most are autosomal recessive | - Except for Hunter = X-linked recessive
36
What enzyme is deficient with Hurler - MPS?
Alpha - L - iduronidase
37
Symptoms of Hurler - MPS
Hepatosplenomegaly and CARDIOVASCULAR complications!! | - Death by age 6-10
38
What enzyme is deficient with Hunter - MPS?
Iduronadate - 2- sulfatase
39
Symptoms of Hunter - MPS
NO corneal clouding, milder clinical course
40
What symptoms do all types of MPS disease have?
Hepatosplenomegaly, skeletal deformities, brain lesions, coronary A. deposits
41
Which form of MPS disease does not have corneal clouding?
Hunter
42
What are Zebra bodies and what 2 diseases are they seen with?
Lysosomes with concentric lamellations | - Seen with Niemann Pick Disease and MPS
43
Glycogenoses lysosomal storage diseases have trouble synthesizing or degrading _____
Glycogen
44
What is an example of a hepatic form of a glycogenoses?
Von Gierke
45
What are the symptoms and deficient enzyme with Von Gierke (hepatic form)?
- Deficient glucose-6-phosphatase | = Increased storage of glycogen in liver and hypoglycemia
46
What is an example of a myopathic form of a glycogenoses?
McArdle Disease
47
What 2 enzymes can be possible deficient with McArdle Disease?
Phosphorylase | Phosphofructokinase
48
What are the symptoms of McArdle Disease (skeletal muscle)?
Increased storage of glycogen in muscle and muscle weakness | = Muscle cramps after exercise
49
Is there an increase in blood lactate after exercise with McArdle Disease?
NO
50
If a Glycogenoses has a defect in acid maltase or branching enzyme, when will death occur?
Early in life -- glycogen storage in many organs
51
What is another example of a Glycogenoses?
Pompe Disease
52
What enzyme is deficient with Pompe Disease?
Acid maltase (acid alpha glucosidase)
53
What are the symptoms of Pompe Disease?
Cardiomegaly filled with glycogen

MOD (68 decks)

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