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MOD > Genetic Disorders - Lysosomal Storage Dz > Flashcards

Genetic Disorders - Lysosomal Storage Dz Flashcards

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?

A

Splenomegaly

1/2 have cherry red spot on macula

23
Q

What do the cells look like with Niemann Pick Disease?

A

Enlarged, FOAMY CYTOPLASM, Zebra bodies

24
Q

Foamy cytoplasm cells?

A

Niemann Pick Disease

25
Q

How is Gaucher Disease inherited?

A

Autosomal Recessive

26
Q

With Gaucher disease, what is not broken down?

A

Glucocerebroside

27
Q

With Gaucher disease, Glucocerebroside accumulates in what cells and then what do the cells release?

A

Phagocytes/macrophages

= Release IL-1, IL-6, TNF

28
Q

Which lysosomal disease is the most common and is also the greatest genetic risk for parkinson’s?

A

Gaucher Disease

29
Q

Type 1 Gaucher Disease symptoms?

A

NO CNS involvement

= Spleen and bone symptoms

30
Q

Type 2 Gaucher Disease symptoms?

A

Infantile cerebral pattern, progressive CNS involvement that leads to death

31
Q

Type 3 Gaucher Disease symptoms?

A

Progressive CNS disease that does not begin until adolescence

32
Q

Type 2 Gaucher Disease does NOT occur in which population?

A

Jewish

33
Q

With what disease is the spleen usually heavier than 10kg, with thrombocytopenia?

A

Gaucher Disease

34
Q

What do the cells look like with Gaucher disease?

A

Crumpled tissue cytoplasm, distended phagocytic cells

35
Q

How are most Mucopolysaccharidoses (MPS) inherited and which one is not inherited that way?

A

Most are autosomal recessive

- Except for Hunter = X-linked recessive

36
Q

What enzyme is deficient with Hurler - MPS?

A

Alpha - L - iduronidase

37
Q

Symptoms of Hurler - MPS

A

Hepatosplenomegaly and CARDIOVASCULAR complications!!

- Death by age 6-10

38
Q

What enzyme is deficient with Hunter - MPS?

A

Iduronadate - 2- sulfatase

39
Q

Symptoms of Hunter - MPS

A

NO corneal clouding, milder clinical course

40
Q

What symptoms do all types of MPS disease have?

A

Hepatosplenomegaly, skeletal deformities, brain lesions, coronary A. deposits

41
Q

Which form of MPS disease does not have corneal clouding?

A

Hunter

42
Q

What are Zebra bodies and what 2 diseases are they seen with?

A

Lysosomes with concentric lamellations

- Seen with Niemann Pick Disease and MPS

43
Q

Glycogenoses lysosomal storage diseases have trouble synthesizing or degrading _____

A

Glycogen

44
Q

What is an example of a hepatic form of a glycogenoses?

A

Von Gierke

45
Q

What are the symptoms and deficient enzyme with Von Gierke (hepatic form)?

A
  • Deficient glucose-6-phosphatase

= Increased storage of glycogen in liver and hypoglycemia

46
Q

What is an example of a myopathic form of a glycogenoses?

A

McArdle Disease

47
Q

What 2 enzymes can be possible deficient with McArdle Disease?

A

Phosphorylase

Phosphofructokinase

48
Q

What are the symptoms of McArdle Disease (skeletal muscle)?

A

Increased storage of glycogen in muscle and muscle weakness

= Muscle cramps after exercise

49
Q

Is there an increase in blood lactate after exercise with McArdle Disease?

A

NO

50
Q

If a Glycogenoses has a defect in acid maltase or branching enzyme, when will death occur?

A

Early in life – glycogen storage in many organs

51
Q

What is another example of a Glycogenoses?

A

Pompe Disease

52
Q

What enzyme is deficient with Pompe Disease?

A

Acid maltase (acid alpha glucosidase)

53
Q

What are the symptoms of Pompe Disease?

A

Cardiomegaly filled with glycogen

MOD (68 decks)

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