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Mechanisms of Disease > Adkison Quizlet- MOD Neuroscience Genetics > Flashcards

Adkison Quizlet- MOD Neuroscience Genetics Flashcards

1
Q

Lisch nodules

A

Neurofibromatosis

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2
Q

CGG repeat

A

Fragile X

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3
Q

CAG repeat

A

Huntington disease

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4
Q

cafe-au-lait spots, plexiform neurofibromas

A

Neurofibromatosis 1

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5
Q

cafe-au-lait spots, vestibular schwannomas

A

Neurofibromatosis 2

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6
Q

mitochondrial disorder with epileptic seizures and degeneration of brain; ragged red fibers

A

MERRF

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7
Q

Formerly called von Recklinghausen

A

NF1 or peripheral neurofibromatosis was called this

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8
Q

Major clinical features of neurofibromatosis 1

A

Major features are: cafe-au-lait spots, freckling, peripheral neurofibromas, lisch nodules

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9
Q

Cafe-au-lait diagnostic criteria in NF1

A

6 or more cafe-au-lait spots

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10
Q

Variable expressivity means

A

The phenotypic features can vary between individuals with the same genotype.

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11
Q

Site of peripheral neurofibroma development

A

They develop on peripheral nerves.

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12
Q

Most common cause of morbidity in NF1

A

Plexiform neurofibroma causes this in NF1

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13
Q

NF1 gene

A

neurofibromin gene

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14
Q

Alternative splicing produces these

A

different isoform; different proteins from same gene

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15
Q

Function of neurofibromin

A

tumor suppressor; negative regulator of RAS is the function of this protein

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16
Q

Another name for NF2

A

bilateral acoustic neurofibromatosis

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17
Q

Nerve often involved in NF2

A

CN 8

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18
Q

Adult onset NF

A

NF2

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19
Q

Child onset NF

A

NF1

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20
Q

Most common form of NF

A

NF1

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21
Q

Frequent early symptom of NF2

A

hearing loss with tinnitus or vertigo is an early symptom

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22
Q

NF2 gene

A

merlin is the gene

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23
Q

NF2 protein function

A

function is tumor suppressor binding to membrane bound proteins/receptors

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24
Q

NF affecting only one region of body

A

This is called segmented NF1 or NF2.

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25
Q

Purpose of purine/pyrimidine salvage pathways

A

recover nucleotides rather than creating them de novo

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26
Q

Substrates for purine/pyrimidine salvage pathways

A

DNA/RNA are the substrates for these

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27
Q

HPRT or HGPRT

A

hypoxanthine/guanine phosphoribosyl transferase is abbreviated this way

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28
Q

Products for HPRT/HGPRT

A

IMP and GMP are the products of these enzyme

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29
Q

Substrates for HPRT/HGPRT

A

Hyoxanthine and guanine are the substrates of these enzymes

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30
Q

Mechanism of inheritance for Lesch-Nyhan disease

A

X-linked inheritance

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31
Q

Self-mutilation is seen in severe cases

A

Lesch-Nyhan disease has this severe presentation

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32
Q

Mutation in Lesch-Nyhan disease

A

HPRT mutation

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33
Q

HPRT mutation causes

A

Lesch-Nyhan disease cause

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34
Q

Joint disease associated with Lesch Nyhan

A

Gout

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35
Q

Color of urate crystals

A

orange is the color

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36
Q

Triplet expanded in fragile X

A

CGG is expanded

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37
Q

Fragile X expansion occurs in what parent

A

Expansion occurs in the mother

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38
Q

Mechanism of triplet expansion

A

DNA slippage is the mechanism

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39
Q

Fragile X etiology

A

Promoter down-regulation is the disease mechansim

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40
Q

Triplet expanded in Huntington disease

A

CAG is expanded

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41
Q

Huntington disease expansion occurs in what parent

A

Expansion occurs in the father

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42
Q

Major features of fragile X in males

A

long face, high arched palate, large ears, macroorchidism

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43
Q

Features fragile X in females

A

tremors/ataxia, premature ovarian failure, mild mental retardation

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44
Q

Features of Huntington disease

A

progressive neuronal death, chorea, dementia

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45
Q

Anticipation in triplet disease means

A

earlier age of onset with greater numbers of repeats

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46
Q

Disease range of triplets in fragile X

A

> 200 repeats

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47
Q

Disease range of triplets in Huntington disease

A

> 38 repeats

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48
Q

Normal cell location of HTT

A

cytoplasm is the location

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49
Q

Cell location of mutant HTT

A

nucleus is the location

50
Q

Brain localization of HTT

A

located in cerebellum, cortex, striatum

51
Q

Atrophies in Huntington disease

A

caudate nucleus, putamen, nucleus accumbens

52
Q

Fundamental unit of sphingolipids

A

ceramide is fundamental unit

53
Q

Most complex group of sphingoglycolipids

A

gangliosides are the most complex

54
Q

GM2 gangliosidosis examples

A

Tay-Sachs and Sandhoff

55
Q

Sphingolipidosis examples

A

Krabbe, Fabry, Gaucher, Niemann-Pick

56
Q

X-linked sphinolipidosis

A

Fabry disease is X-linked

57
Q

Site of ganglioside and sphingolipid accumulation

A

Accumulate in cell

58
Q

Site of mucopolysaccharide accumulation

A

Accumulate outside of cell

59
Q

Tay-Sachs disease mutation

A

Hexosaminidase A mutation

60
Q

Sandhoff disease mutation

A

Hexosaminidase B mutation

61
Q

Site of GM2 accumulation in gangliosidoses

A

CNS/ANS, retina

62
Q

Eye finding in lysosomal storage diseases

A

cherry red spot of the macula

63
Q

Defect in MPS diseases

A

heparan sulfate and dematan sulfate degradation pathways

64
Q

Most severe MPS

A

Hurler syndrome

65
Q

X-linked MPS

A

Hunter syndrome

66
Q

Mild MPS (also MPS III)

A

Sanfilippo syndrome

67
Q

Mild form Hurler syndrome

A

Scheie syndrome

68
Q

Hurler syndrome mutation

A

alpha-iduronidase

69
Q

Accumulated product in MPS I

A

heparan sulfate and dermatan sulfate accumulate

70
Q

Accumulated product in MPS III

A

heparan sulfate

71
Q

Accumulated product in MPS II

A

heparan sulfate and dermatan sulfate accumulate

72
Q

Example of a compound heterozygote

A

Hurler-Scheie syndrome

73
Q

Mutation in Hunter syndrome

A

Iduronate sulfatase is mutated

74
Q

Two examples with recombinant enzyme treatments

A

MPS I (alpha iduronidase) and Fabry disease (alpha galactosidase) are examples

75
Q

Major clinical sign in Alzheimer disease

A

progressive dementia is clinical sign

76
Q

Major findings in Alzheimer neuropathology

A

beta-amyloid plaques and neurofibrillary tangles

77
Q

Neuroimaging of Alzheimer brains shows these

A

cortical thinning, loss of gray matter

78
Q

Greatest causes of Alzheimer disease

A

About 75% of cases have unknown etiology

79
Q

Types of early onset AD

A

AD 1, 3, 4

80
Q

Mutation in AD 1

A

Amyloid beta precursor protein (APP) mutation

81
Q

Mutation in AD 3

A

Presenilin 1

82
Q

Mutation in AD 4

A

Presenilin 2

83
Q

Components of gamma secretase

A

PS 1, PS 2, nicatrin, APH1

84
Q

Secretase forming only non-toxic products

A

Alpha secretase forms this product

85
Q

Beta secretase products

A

AB40 and AB42

86
Q

Toxic product of beta secretase

A

AB42

87
Q

Gene involved in late onset AD

A

Apolipoprotein E (APOE) is the gene

88
Q

Site of brain synthesis of APOE

A

microglia/astrocytes

89
Q

Function of APOE in brain

A

transports cholesterol to neurons

90
Q

Why do neurons need cholesterol

A

membranes, synaptic integrity, normal neuron function

91
Q

3 things APOE regulate in brain

A

AB level, AB deposition, AB clearance

92
Q

APOE allele associated with low AD incidence

A

APOE2

93
Q

APOE allele associated with late onset AD

A

APOE4

94
Q

Cell structure associated with tau proteins

A

microtubules

95
Q

Function of tau proteins

A

regulates microtubule assembly and stability

96
Q

Normal phosphorylation state of tau

A

Low phosphorylation state in normal conditions

97
Q

Phosphorylation state of tau aggregates

A

hyperphosphorylation is in tau aggregates

98
Q

Number of tau isoforms

A

6 isoforms

99
Q

Different functions of isoforms

A

plasticity and stability

100
Q

Two major sources of free radicals

A

mitochondria and NADPH oxidase

101
Q

Function of microglia

A

clear and degrade amyloid beta proteins

102
Q

Pathway generating superoxide in cells

A

oxidative phosphorylation creating excess electrons

103
Q

Ox-Phos complex involved in brain superoxide formation

A

Complex I in the brain

104
Q

Superoxide reacts with nitrous oxide to form

A

peroxynitrates are formed from these

105
Q

Secreted by microglia

A

IL, TNFa, TGFb

106
Q

Dysfunctional microglia in AD result in this

A

decreased APOE receptors, decreased cholesterol transport

107
Q

Increased TNFa and IL-6 cause this

A

sickness behavior is caused by these

108
Q

symptoms of sickness behavior

A

anxiety, depression, apathy

109
Q

system inflammation characteristics

A

increased C-reactive protein, TNFa, IL-6

110
Q

cafe-au-lait spots in NF2

A

less than 6 typically

111
Q

skeletal abnormality associated with MPS

A

oval-shaped vertebrae had hook-shaped spious processes

112
Q

deformities associated with MPS

A

gibbus deformity and lumbar kyphosis

113
Q

function of FMRP

A

transports specific mRNAs to cytoplasm for translation (prevents mental retardation)

114
Q

HTT stimulates production of this

A

brain derived neurotrophic factor (BDNF)

115
Q

Femur deformity associated with Gaucher disease

A

Erlenmyer flask deformity

116
Q

Mutated enzyme in Gaucher disease

A

glucocerebrosidase is mutated

117
Q

Mutated enzyme in Krabbe disease

A

galactocerebrosidase is mutated

118
Q

Characterized by pain in extremities, may be intermittent

A

Fabry disease

119
Q

Two abnormal proteins associated with early onset AD

A

APP and gamma-secretase (composed of presenilins and 2 other proteins)

120
Q

Two subunits of sphingolipids

A

sphingosine and a fatty acid

121
Q

Site of MPS (GAG) accumulation

A

extracellular spaces of connective tissues

Mechanisms of Disease (12 decks)

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