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Genetic diseases II Flashcards

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1
Q

True or false: AR diseases have much more uniform expression than AD

A

True

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2
Q

True or false: AR diseases often have complete penetrance

A

True

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3
Q

When do AR usually present, early, middle, or late in life?

A

Early

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4
Q

AR proteins usually show what mutation?

A

Loss of function

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5
Q

True or false: all inborn errors of metabolism are AR

A

True

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6
Q

Which are more common, AR or AD diseases?

A

AR

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7
Q

True or false: AD diseases usually skip generations

A

False-AR

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8
Q

Alkaptonuria is the result of a deficiency of what enzyme?

A

Homogentisic acid oxidase

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9
Q

What is the pathogenesis of alkaptonuria?

A

Homogentisic acid binds to cartilage, turning it blue-black

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10
Q

Urine that turns black upon standing = ?

A

alkaptonuria

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11
Q

What is the reaction that homogentisic acid oxidase catalyzes?

A

Homogentisic acid to maleyacetoacetic acid

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12
Q

What is the major symptom of alkaptonuria?

A

Early onset osteoarthritis d/t deposition of homogentisic acid in cartilage

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13
Q

What part of the body is susceptible to the osteoarthritis caused by alkaptonuria?

A

Vertebral discs

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14
Q

True or false: cartilage is the only place where homogentisic acid is deposited?

A

False–tendons as well

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15
Q

Black skin spots around the ears = ?

A

alkaptonuria

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16
Q

What is the general problem in lysosomal storage disease?

A

Lysosomes do not function correctly, thus causing a buildup of materials in a lysosome. This can cause cells death

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17
Q

What is the enzyme that is affected in Tay-sachs?

A

Hexosaminidase A

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18
Q

What is the enzyme that is affected in Gaucher’s disease?

A

Glucocerebrosidase

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19
Q

What is the enzyme that is affected in Niemann-pick disease?

A

Sphingomyelinase

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20
Q

What is the enzyme that is affected in mucopolysaccharidoses?

A

Induronidase

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21
Q

What is the major accumulating metabolite in Tay sachs?

A

CM2 ganglioside

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22
Q

What is the major accumulating metabolite in Gaucher’s disease?

A

glucocerebroside

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23
Q

What is the major accumulating metabolite in Niemann pick disease?

A

Sphingomyelin

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24
Q

What is the major accumulating metabolite in Hurler’s and hutner’s syndrome?

A

Dematan sulfate, heparan sulfate

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25
What is the enzyme deficiency in Hunter's syndrome? Hurlers?
``` Hulers = alpha-L-iduronidase Hunters = L-iduronosulfate sulfatase ```
26
What is the enzyme that is affected in Gaucher's disease?
-Beta-Glucocerebrosidase
27
What is the therapeutic agent for Pompe's disease?
Myozyme
28
What is the therapeutic agent for Hunter's syndrome?
Elaprase
29
What is the therapeutic agent for Hurler's syndrome?
Aldurazyme
30
Tay-Sach's disease is caused by what mutation in what gene?
Frameshift mutation in the HexA gene
31
What are the symptoms of Tay-sachs? Pathogenesis?
MR and blindness after birth d/t accumulation of ganglioside accumulation
32
When does death occur in pts with Tay-sachs?
before age 4
33
What are the LM histological findings of Tay-sachs?
Swollen neurons
34
Membranous concentric bodies in neurons on EM = ?
Tay-sachs disease
35
Cherry red spot = what disease? Why?
Tay-sachs or Niemann Picks type A d/t increased deposition
36
What is the cherry red spot?
Enhanced macula d/t deposition of material around it. Seen in Tay-sachs and Niemann-Picks type A
37
What is the most common lysosomal storage disease?
Gaucher's disease
38
What is the pathogenesis in Gaucher's disease?
Accumulation of glucocerebrosides (ceramide + glucose) within lysosomes of macrophages
39
On what chromosome is the gene for glucocerebrosidase?
1q
40
What are Gaucher cells?
Macrophages with accumulation of glucoceramide
41
What are the histological findings of Gaucher's disease?
Macrophages with wrinkled tissue paper appearance
42
Which type of Gaucher's is most common (1, 2, or 3)? Which is most severe?
``` 1 = most common 2 = most severe ```
43
Which type(s) of Gaucher's have neuropathic involvement (1, 2, or 3)?
2 and 3
44
What are the symptoms of type 1 Gaucher's? Pathogenesis?
Asymptomatic to skeletal deformities/hepatosplenomegaly d/t macrophage accumulations
45
What are the symptoms of type 2 Gaucher's?
Type III + Hydrops fetalis Progressive neuro degeneration
46
What are the symptoms of type 3 Gaucher's?
Parkinsonian | Eye movement disorders
47
Which type of Gaucher's disease is seen in higher incidence amongst Ashkenazi jews?
Type I
48
What are the symptoms of type 1 Gaucher's? Pathogenesis?
Asymptomatic to skeletal deformities/hepatosplenomegally d/t macrophage accumulations
49
What are the symptoms of type 2 Gaucher's? Pathogenesis?
Type III + Hydrops fetalis Progressive neuro degeneration
50
What are the symptoms of type 3 Gaucher's? Pathogenesis?
Parkinsonian | Eye movement disorders
51
What is the treatment for Gaucher's disease?
Imiglucerase (cerezyme)
52
What is the mutation of type A and B Niemann-Pick's disease? What is the gene affected?
Missense mutation in acid sphingomyelinase
53
What is the mutation of type C Niemann-Pick's disease? What is the gene affected?
Deficiency in cholesterol transport--NOT an enzyme defect
54
What are the symptoms of type A Niemann-Picks disease?
Neurological defects
55
What are the symptoms of type B Niemann-Picks disease?
Hepatosplenomegaly No CNS involvement
56
What is the mutation of type A and B Niemann-Pick's disease?
Missense mutation in acid sphingomyelinase
57
What are the symptoms of type B Niemann-Picks disease?
Hepatosplenomegaly No CNS involvement
58
In what cells does sphingomyelin accumulate in Niemann-Picks disease?
Macrophages
59
Zebra body macrophages = what disease?
Niemann-Picks
60
What is the mutation in type C Niemann-Picks disease? What does this cause? What is deposited in macrophages?
NPC1--defect in choleserol transport, causing increased deposition of GM1 and GM2
61
Which is most common Type A, B or C of Niemann-Picks disease?
Type C
62
What are the symptoms of type C Niemann-Picks disease?
Progressive neurological damage (ataxia, dystonia etc)
63
What is NP1 protein in Niemann picks type C?
G-coupled protein receptor to get cholesterol out of the lysosome
64
What is NP2 protein in Niemann picks type C?
Transporter of cholesterol
65
As pts with Niemann-Picks disease age, what happens to their neurological symptoms? Systemic symptoms?
Systemic go down | Neuro go up
66
What are the four major diseases that have an increased incidence in the Ashkenazi Jewish population?
1. CF 2. Gaucher's disease 3. Niemann-Pick 4. Taysachs
67
What is the general problem with mucopolysaccharidoses?
Defect in lysosomal enzymes that degrade mucopolysaccharides, causing a buildup in lysosomes of muscle tissues
68
Which has a milder course: Hurler's or Hunter's syndrome?
Hunter
69
What are the histological characteristics of MPS?
cleared cytoplasm in cells
70
What is the inheritance pattern for Hunters syndrome? Hurlers?
``` Hunters = XLR Hurler's = AR ```
71
What are the symptoms of Hurler's syndrome? (2)
Gargoyle children with EITHER progressive MR OR aortic valve problems subendothelial arterial deposits in the coronary arteries
72
What are the symptoms of Hunter's syndrome? (2)
mild hepatosplenomegaly subendothelial arterial deposits in the coronary arteries
73
What symptom is common to Hurler's and Hunter's syndrome?
subendothelial arterial deposits in the coronary arteries
74
Which has corneal clouding: Hurler's or Hunter's syndrome?
Hurler's
75
True or false: there is an enzyme replacement therapy for both Hurler's and Hunter's syndrome
True
76
What is the enzyme deficiency in von Gierke's disease, (type I), and what does this cause (3)?
Glucose-6-phosphatase Hepatomegaly, hypoglycemia, hyperlipidemia,
77
What is the enzyme deficiency in Pompe's disease, (type III), and what does this cause (3)?
Acid maltase Floppy baby, Cardiomegally, cardiorespiratory failure
78
What are the names of Type I, III, and V GSDs?
``` I = Von Gierke's disease V= McArdle's disease III = Pompe's disease ```
79
What is the enzyme deficiency in McArdle's disease, (type V), and what does this cause (2)?
Muscle phosphorylase Painful cramps with exercise +myoglobin uria
80
Floppy baby + glossomegaly + cardiomegaly = ?
Pompe's disease (type III GSD)
81
What is the stain used to highlight carbs?
PAS
82
Hepatomegaly + Xanthomas + gout + hypoglycemia + hyperlipidemia + convulsion = what disease?
Type I GSD (von Gierke's)
83
True or false: McArdle's syndome have normal muscle strength
True

Pathology (32 decks)

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