Adkison Quizlet- MOD Neuroscience Genetics Flashcards
(121 cards)
1
Q
Lisch nodules
A
Neurofibromatosis
2
Q
CGG repeat
A
Fragile X
3
Q
CAG repeat
A
Huntington disease
4
Q
cafe-au-lait spots, plexiform neurofibromas
A
Neurofibromatosis 1
5
Q
cafe-au-lait spots, vestibular schwannomas
A
Neurofibromatosis 2
6
Q
mitochondrial disorder with epileptic seizures and degeneration of brain; ragged red fibers
A
MERRF
7
Q
Formerly called von Recklinghausen
A
NF1 or peripheral neurofibromatosis was called this
8
Q
Major clinical features of neurofibromatosis 1
A
Major features are: cafe-au-lait spots, freckling, peripheral neurofibromas, lisch nodules
9
Q
Cafe-au-lait diagnostic criteria in NF1
A
6 or more cafe-au-lait spots
10
Q
Variable expressivity means
A
The phenotypic features can vary between individuals with the same genotype.
11
Q
Site of peripheral neurofibroma development
A
They develop on peripheral nerves.
12
Q
Most common cause of morbidity in NF1
A
Plexiform neurofibroma causes this in NF1
13
Q
NF1 gene
A
neurofibromin gene
14
Q
Alternative splicing produces these
A
different isoform; different proteins from same gene
15
Q
Function of neurofibromin
A
tumor suppressor; negative regulator of RAS is the function of this protein
16
Q
Another name for NF2
A
bilateral acoustic neurofibromatosis
17
Q
Nerve often involved in NF2
A
CN 8
18
Q
Adult onset NF
A
NF2
19
Q
Child onset NF
A
NF1
20
Q
Most common form of NF
A
NF1
21
Q
Frequent early symptom of NF2
A
hearing loss with tinnitus or vertigo is an early symptom
22
Q
NF2 gene
A
merlin is the gene
23
Q
NF2 protein function
A
function is tumor suppressor binding to membrane bound proteins/receptors
24
Q
NF affecting only one region of body
A
This is called segmented NF1 or NF2.
25
Purpose of purine/pyrimidine salvage pathways
recover nucleotides rather than creating them de novo
26
Substrates for purine/pyrimidine salvage pathways
DNA/RNA are the substrates for these
27
HPRT or HGPRT
hypoxanthine/guanine phosphoribosyl transferase is abbreviated this way
28
Products for HPRT/HGPRT
IMP and GMP are the products of these enzyme
29
Substrates for HPRT/HGPRT
Hyoxanthine and guanine are the substrates of these enzymes
30
Mechanism of inheritance for Lesch-Nyhan disease
X-linked inheritance
31
Self-mutilation is seen in severe cases
Lesch-Nyhan disease has this severe presentation
32
Mutation in Lesch-Nyhan disease
HPRT mutation
33
HPRT mutation causes
Lesch-Nyhan disease cause
34
Joint disease associated with Lesch Nyhan
Gout
35
Color of urate crystals
orange is the color
36
Triplet expanded in fragile X
CGG is expanded
37
Fragile X expansion occurs in what parent
Expansion occurs in the mother
38
Mechanism of triplet expansion
DNA slippage is the mechanism
39
Fragile X etiology
Promoter down-regulation is the disease mechansim
40
Triplet expanded in Huntington disease
CAG is expanded
41
Huntington disease expansion occurs in what parent
Expansion occurs in the father
42
Major features of fragile X in males
long face, high arched palate, large ears, macroorchidism
43
Features fragile X in females
tremors/ataxia, premature ovarian failure, mild mental retardation
44
Features of Huntington disease
progressive neuronal death, chorea, dementia
45
Anticipation in triplet disease means
earlier age of onset with greater numbers of repeats
46
Disease range of triplets in fragile X
>200 repeats
47
Disease range of triplets in Huntington disease
>38 repeats
48
Normal cell location of HTT
cytoplasm is the location
49
Cell location of mutant HTT
nucleus is the location
50
Brain localization of HTT
located in cerebellum, cortex, striatum
51
Atrophies in Huntington disease
caudate nucleus, putamen, nucleus accumbens
52
Fundamental unit of sphingolipids
ceramide is fundamental unit
53
Most complex group of sphingoglycolipids
gangliosides are the most complex
54
GM2 gangliosidosis examples
Tay-Sachs and Sandhoff
55
Sphingolipidosis examples
Krabbe, Fabry, Gaucher, Niemann-Pick
56
X-linked sphinolipidosis
Fabry disease is X-linked
57
Site of ganglioside and sphingolipid accumulation
Accumulate in cell
58
Site of mucopolysaccharide accumulation
Accumulate outside of cell
59
Tay-Sachs disease mutation
Hexosaminidase A mutation
60
Sandhoff disease mutation
Hexosaminidase B mutation
61
Site of GM2 accumulation in gangliosidoses
CNS/ANS, retina
62
Eye finding in lysosomal storage diseases
cherry red spot of the macula
63
Defect in MPS diseases
heparan sulfate and dematan sulfate degradation pathways
64
Most severe MPS
Hurler syndrome
65
X-linked MPS
Hunter syndrome
66
Mild MPS (also MPS III)
Sanfilippo syndrome
67
Mild form Hurler syndrome
Scheie syndrome
68
Hurler syndrome mutation
alpha-iduronidase
69
Accumulated product in MPS I
heparan sulfate and dermatan sulfate accumulate
70
Accumulated product in MPS III
heparan sulfate
71
Accumulated product in MPS II
heparan sulfate and dermatan sulfate accumulate
72
Example of a compound heterozygote
Hurler-Scheie syndrome
73
Mutation in Hunter syndrome
Iduronate sulfatase is mutated
74
Two examples with recombinant enzyme treatments
MPS I (alpha iduronidase) and Fabry disease (alpha galactosidase) are examples
75
Major clinical sign in Alzheimer disease
progressive dementia is clinical sign
76
Major findings in Alzheimer neuropathology
beta-amyloid plaques and neurofibrillary tangles
77
Neuroimaging of Alzheimer brains shows these
cortical thinning, loss of gray matter
78
Greatest causes of Alzheimer disease
About 75% of cases have unknown etiology
79
Types of early onset AD
AD 1, 3, 4
80
Mutation in AD 1
Amyloid beta precursor protein (APP) mutation
81
Mutation in AD 3
Presenilin 1
82
Mutation in AD 4
Presenilin 2
83
Components of gamma secretase
PS 1, PS 2, nicatrin, APH1
84
Secretase forming only non-toxic products
Alpha secretase forms this product
85
Beta secretase products
AB40 and AB42
86
Toxic product of beta secretase
AB42
87
Gene involved in late onset AD
Apolipoprotein E (APOE) is the gene
88
Site of brain synthesis of APOE
microglia/astrocytes
89
Function of APOE in brain
transports cholesterol to neurons
90
Why do neurons need cholesterol
membranes, synaptic integrity, normal neuron function
91
3 things APOE regulate in brain
AB level, AB deposition, AB clearance
92
APOE allele associated with low AD incidence
APOE2
93
APOE allele associated with late onset AD
APOE4
94
Cell structure associated with tau proteins
microtubules
95
Function of tau proteins
regulates microtubule assembly and stability
96
Normal phosphorylation state of tau
Low phosphorylation state in normal conditions
97
Phosphorylation state of tau aggregates
hyperphosphorylation is in tau aggregates
98
Number of tau isoforms
6 isoforms
99
Different functions of isoforms
plasticity and stability
100
Two major sources of free radicals
mitochondria and NADPH oxidase
101
Function of microglia
clear and degrade amyloid beta proteins
102
Pathway generating superoxide in cells
oxidative phosphorylation creating excess electrons
103
Ox-Phos complex involved in brain superoxide formation
Complex I in the brain
104
Superoxide reacts with nitrous oxide to form
peroxynitrates are formed from these
105
Secreted by microglia
IL, TNFa, TGFb
106
Dysfunctional microglia in AD result in this
decreased APOE receptors, decreased cholesterol transport
107
Increased TNFa and IL-6 cause this
sickness behavior is caused by these
108
symptoms of sickness behavior
anxiety, depression, apathy
109
system inflammation characteristics
increased C-reactive protein, TNFa, IL-6
110
cafe-au-lait spots in NF2
less than 6 typically
111
skeletal abnormality associated with MPS
oval-shaped vertebrae had hook-shaped spious processes
112
deformities associated with MPS
gibbus deformity and lumbar kyphosis
113
function of FMRP
transports specific mRNAs to cytoplasm for translation (prevents mental retardation)
114
HTT stimulates production of this
brain derived neurotrophic factor (BDNF)
115
Femur deformity associated with Gaucher disease
Erlenmyer flask deformity
116
Mutated enzyme in Gaucher disease
glucocerebrosidase is mutated
117
Mutated enzyme in Krabbe disease
galactocerebrosidase is mutated
118
Characterized by pain in extremities, may be intermittent
Fabry disease
119
Two abnormal proteins associated with early onset AD
APP and gamma-secretase (composed of presenilins and 2 other proteins)
120
Two subunits of sphingolipids
sphingosine and a fatty acid
121
Site of MPS (GAG) accumulation
extracellular spaces of connective tissues
