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Noorda FOM > Module 3-4 Review > Flashcards

Module 3-4 Review Flashcards

(127 cards)

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1
Q

I-cell disease biomarker (Dr. R)

A

Elevated lysosomal enzymes in plasma (inclusion bodies)

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2
Q

I-cell disease symptoms (Dr. R)

A

Coarse facial features
Developmental delay
Skeletal abnormalities
Restricted joint movement
Enlarged liver and spleen

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3
Q

Gaucher disease affected enzyme (Dr. R)

A

Glucocerebrosidase

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4
Q

Gaucher disease biomarker (Dr. R)

A

Elevated chitotriosidase

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5
Q

Gaucher disease symptoms (Dr. R)

A

Enlarged liver and spleen
Bone pain
Fatigue
Bruising and bleeding
Lung disease
Growth retardation

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6
Q

Fabry disease affected enzyme (Dr. R)

A

Alpha-galactosidase A

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7
Q

Fabry disease biomarker (Dr. R)

A

Elevated globotriaosylceramide (ceramide trihexoside)

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8
Q

Tay-Sachs disease affected enzyme (Dr. R)

A

Hexosaminidase A

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9
Q

Tay-Sachs disease biomarker (Dr. R)

A

Elevated GM2 ganglioside

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10
Q

Krabbe disease affected enzyme (Dr. R)

A

Galactocerebrosidase

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11
Q

Krabbe disease symptoms (Dr. R)

A

Peripheral neuropathy
Destruction of oligodendrocytes
Developmental delay
Optic atrophy
Globoid cells

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12
Q

Niemann-Pick disease biomarker (Dr. R)

A

Elevated sphingomyelin

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13
Q

Niemann-Pick disease symptoms (Dr. R)

A

Enlarged liver and spleen
Neurological decline
Ataxia
Interstitial lung disease
Feeding difficulties
Failure to thrive

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14
Q

MLD affected enzyme (Dr. R)

A

Arylsulfatase A

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15
Q

MLD biomarker (Dr. R)

A

Elevated sulfatides

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16
Q

MLD symptoms (Dr. R)

A

Progressive neurological decline
Motor function loss
Behavioral changes
Seizures
Peripheral neuropathy

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17
Q

Hurler syndrome biomarker (Dr. R)

A

Elevated dermatan sulfate and heparan sulfate

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18
Q

Hurler syndrome symptoms (Dr. R)

A

Developmental delay
Skeletal abnormalities
Airway obstruction
Corneal clouding
Hepatosplenomegaly

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19
Q

Sphingolipidosis diseases

A

Tay-Sachs (GM2 Type A)*
Sandhoff (GM2 Type O) Activator deficiency (GM2 Type AB)
Niemann-Pick (A, B, C)*
Gaucher (1, 2, 3)*
Fabry (Classic, Adult)*
Metachromatic leukodystrophy (MLD)*
Krabbe (Globoid leukodystrophy)*
GM1 gangliosidosis (1, 2, 3)
Multiple sulfatase deficiency

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20
Q

Mucopolysaccharidosis syndromes

A

Hurler*
Scheie
Hurler-Scheie
Hunter*
San Filippo (A, B, C, D)
Morquio (A, B)
Maroteaux-Lamy
Sly

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21
Q

Mucolipidosis diseases

A

Sialidosis I and II (mucolipidois I)
I-cell (mucolipidois II)*
Psuedo-Hurler-Polydystrophy (mucolipidois III)
Mucolipidois IV

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22
Q

What happens when eIF-2 is phosphorylated

A

Inactivated

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23
Q

What amino acids have hydroxylation occur

A

Proline
Lysine
(Vitamin C dependent hydroxylases)

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24
Q

Collagen IV dysfunction diseases

A

Alport syndrome
Goodpasture syndrome

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25
What causes Alport syndrome
Mutations in C-terminal globular domain of certain collagen IV chains
26
Symptoms of Alport syndrome
Progressive renal failure Sensorineural hearing loss Ocular abnormalities
27
Examples of adhesive ECM proteins
Integrins Cadherins Actin
28
Key structure of collagen
Glycine-proline-hydroxyproline with hydroxylysine
29
What 2 cofactors are required for collagen synthesis
Vitamin C Iron (Fe2+)
30
What regulates MMP's and ADAMT's
Tissue Inhibitors of Matrix Metalloproteinases (TIMP's)
31
What causes osteogenesis imperfecta (brittle bone or Lobstein syndrome)
Mutation in COL1A1 and COL1A2 causing collagen type I deficiency
32
Symptoms of Lobstein syndrome
Excessive bone fractures Bone deformities Short height Basilar invagination
33
What is Ehlers-Danlos syndrome
Structural weakness in connective tissue due to defective collagen
34
Symptoms of scurvy
Perifollicular hyperkeratosis Perifollicular hemorrhage Coiled fragile corkscrew hair Palpable purpura Gingivitis Swollen and painful joints
35
Function of gap junctions
Intercellular communication
36
Main cell to cell adhesion molecule
E-cadherin
37
What molecule suppression leads to metastasis of many cancers
E-cadherin
38
What cadherins are in desomosomes
Desmoglein 1 Desmoglein 3
39
What are gap junctions
2 connexon hemi-channels composed of 6 connexin monomers each
40
What proteins are associated with tight junctions
Claudins Occludins
41
What proteins are associated with hemidesmisomes
Integrins Keratin
42
Function of tight junctions
Prevent pericellular transport
43
Function of adhering junctions
Connects cells to each other
44
Function of desmosomes
Linking transcellular intermediate filaments
45
Function of hemidesmosomes
Anchor cells to basal lamina Maintain integrity of basal lamina
46
Function of collagen type I
Bone Skin Tendons Ligaments Fascia Dentin Cornea Organs Scar tissue (late)
47
Function of collagen type II
Cartilage Vitreous humor Intervertebral discs
48
Function of collagen type III (reticulin)
Reticular fibers of the skin Blood vessels Scar tissue (early) Fetal through embryogenesis
49
Function of collagen type IV
Basement membrane Lens
50
Disease associated with collagen type I
Osteogenesis imperfecta Ehlers-Danlos Type I
51
Disease associated with collagen type III
Ehlers-Danlos Type IV
52
Disease associated with collagen type IV
Alport Goodpasture
53
Function of vinca alkaloids
Inhibit microtubule polymerization
54
Function of taxanes/taxels
Inhibit microtubule disassembly/Stabilize GDP-bound tubulin
55
Function of colchicine
Inhibit microtubule polymerization (Gout)
56
What stimuli are needed to make adult stem cells like embryonic
KLF MYC OCT3/4 SOX2 Nanog
57
"GO" factors for the cell cylce
Cyclins Cyclin dependent kinases Polo like kinases
58
"STOP" factors for cell cycle
TSG's RB p53 CDK inhibitors
59
Cyclin - CDK - G1 active phase
Cyclin D (D1, D2, D3) - CDK4/CDK6
60
Cyclin - CDK - G1/S active phase
Cyclin E - CDK2
61
Cyclin - CDK - S active phase
Cyclin A - CDK2/CDK1
62
Cyclin - CDK - G2, M active phase
Cyclin B/A - CDK1
63
What virus causes Burkitt's or Hodgkin's lymphomas
Epstein-Barr (EBV)
64
What virus causes cervical cancer
Human Papilloma 16 (HPV)
65
What virus causes Kaposi sarcoma, non-Hodgkin's and Hodgkin's lymphomas, and cervical cancers
Human Immunodeficiency (HIV)
66
Angiogenesis activators
Angiotropin* Ephrin* Fibroblast Growth Factor* MMP's* PDGF* VEGF* HIF-1 Erythropoietin
67
Angiogenesis inhibitors
Thrombospondins Platelet factor 4 Endostatin Angiostatin TIMPs Angiopoietin-2
68
What are the major characteristics of LAD
Disrupted microtubule assembly and aggregated microtubule proteins Increased levels of fetal hemoglobin and reduced levels of adult hemoglobin Rare and is Bombay (hh) blood type and lack of Lewis blood group antigen
69
What is the deficiency in LAD Type I
beta2 integrin on leukocytes
70
What is the deficiency in LAD Type II
Selectins or fucosylation of selectins
71
Function of Arp2/3 complex (platelet abnormalities, cutaneous vasculitis, eosinophilia)
Initiate branches of actin
72
73
Major symptoms of Kartagener syndrome
Chronic sinusitis, lower respiratory tract infections, dextrocardia
73
Function of dystropin (muscular dystrophy)
Mediates actin binding with transmembrane protein in muscles
73
Function of spectrin (hereditary spherocystosis)
Cytoskeletal organization in erythrocytes (spherical RBC)
73
Causes of Kartagener syndrome
Impaired ciliary movement, mostly due to mutations in genes encoding dynein arms
74
Vitamin C deficiency adversely affects
Connective tissue Bones Dentin
75
Effects of Kartagener syndrome
Immotile sperm, Infertility, Severe bronchiectasis and sinusitis, Recurrent pulmonary infections
75
Diseases associated with gap junctions
Atrial fibrillation Charcot-Marie –Tooth syndrome (connexin 32 mutation)
76
Disease associated with tight junctions
Crohn's
77
Diseases associated with hemidesmosomes
Bullous pemphigoid (antibodies specifically target proteins (Integrin α6β4; BP180, BP230) Epidermolysis bullosa
78
Disease associated with desmosomes
Pemphigus vulgaris (antibodies target desmoglein, a desmosomal specific cadherin)
79
Protein associated with desmosomes
Cadherin
80
Protein associated with hemidesmosomes
Integrin
81
Anchoring proteins
Actin Cadherin Integrin
82
Cell-cell juncitons
Gap Tight Desmosomes Adheren
83
Cell-matrix junctions
Actin linked Hemidemsosomes
84
Deficiency of spectrin causes
hereditary spherocytosis
85
Dystrophin deficiency causes
Muscular dystrophy
86
What is becaplermin used for
Recombinant PDGF, diabetic neuropathic ulcers
87
What are "mab"'s
Monoclonal antibodies
88
What are "nib"'s
RTK inhibitors
89
What are Bevacizumab, Ranibizumab
VEGF-A monoclonal antibodies
90
Steps of sprouting angiogenesis
Angiogenic factors---ECM proteases helps endothelial cell escape------EC proliferation and sprouts---migration----tube formation
91
Steps of Intussusceptive angiogenesis
Two vessel forms contact zone-----growth factors penetrate-------pericyte and myofibroblasts infiltration------vessel growth
92
What ubiquinates and degrades cylcins/CDK's in M phase
Anaphase promoting complex (APC)
93
Intrinsic pathway for apoptosis
Stress-----Bcl-2 inactivated-------Bax and Bak activation which forms pores in mitochondrial membrane-------release of cytochrome C----------activation of apoptosome (APF1 and caspase-9)-------caspase-3 activation------apoptosis
94
Extrinsic pathway for pathogens/cytokines in apoptosis
Death receptor (FADD) activation------Disc formation------activation of caspase 8 -------caspase-3 activation------apoptosis
95
Extrinsic pathway for pathogens/cytokines in apoptosis (mitochondria)
Death receptor activation------Disc formation------activation of caspase 8 ------Bid----mitochondrial cytochrome C release----apoptosome -caspase-3 activation------apoptosis.
96
Function of capsase 1
Innate immunity Inflammatory responses
97
Disease associated with increased expression of capsase 3
Huntington's
98
Mutation in capsase 3 causes
Cancer
99
Anti-apoptotic proteins
BCL-2 BCL-xL BCL-w
100
Pro-apoptotic proteins
Bax Bad Bak Bid Noxa
101
Examples of oncogene collaboration
KRAS and MYC Beta-catenin and APC Ras and p53
102
Oncogene collaboration happens at what time
Same time
103
Oncogene multi-hit happens at what time
Throughout life
104
What virus causes only Kaposi sarcoma
Human herpes 8 (HHV-8)
105
Tumor suppressor APC mutation symptoms
Adenomatous polyps
106
Tumor suppressor APC mutation disease
Familial adenomatous polyposis
107
Tumor suppressor PTEN mutation symptoms
Harmartomatous polyps
108
Tumor suppressor APC mutation disease
Cowden syndrome (multiple cancers)
109
Tumor suppressor p53 mutation disease
Li-Fraumeni syndrome - Osteosarcoma - Breast cancer - Brain cancer - Others
110
Tumor suppressor RB mutation disease
Retinoblastoma
111
Function of BCR-ABL gene
Non-receptor tyrosine kinase
112
Function of JAK2 gene
Non-receptor tyrosine kinase
113
Function of C-myc gene
Transcription factor
114
Function of BCL2 gene
Anti-apoptosis
115
Disease caused by BCR-ABL mutation
CML (t9:22)
116
Disease caused by JAK 2 mutation
Chronic myeloproliferative disorders
117
Disease caused by C-myc mutation
Burkitt lymphoma
118
Disease caused by BCL 2 mutation
Follicular lymphoma, diffuse large B cell lymphoma
119
Burkitt lymphoma is caused by what gene translocations
Myc 8q24 and IgH 14q32
120
Chronic myeloid leukemia is caused by what gene translocations
Abl 9q34 and BCR 22q11
121
Follicular lymphoma is caused by what gene translocations
IgH 14q32 and Bcl2 18q21
122
Major carcinogens include
Alkylating agents Aflatoxin Asbestos Arsenic
123
Example of multi-hit hypothesis for colon cancer
Mutations in - APC - KRAS - TP53

Noorda FOM (18 decks)

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