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MTC > Block III week 1 > Flashcards

Block III week 1 Flashcards

1
Q

progenitor cells vs. stem cells

A

cells that retain the ability to give rise to terminally differentiated cells; stem cells can also regenerate themselves

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2
Q

lateral inhibition

A

cells compete by sending out inhibitory signals to neighboring cells and alterning their developmental direction

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3
Q

what defines the AP axis?

A

sperm entry site and site of extrusion of the second polar body. polarity is determined by a region of extra-embryonic tissue called the visceral endoderm, which is at the cranial end

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4
Q

defining the ventral dorsal axis

A

embryonic face of the ICM in contact with the trophoblastl

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5
Q

definition of the Left/right axis

A

lefty1 and nodal expression on the left side imparts leftness. important in the formation of the heart tube

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6
Q

situs solitus: where is the heart and how does the small bowel loop?

A

normal configuration: heart on left, small bowel loops counterclockwise

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7
Q

situs ambiguus symptoms

A

problems with congenital heart disease, asplenia or polysplenia

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8
Q

homeotic mutants

A

when one body part develops as if it were a different body part

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9
Q

spacial and temporal colinearity wrt homeobox genes

A

basically this meanst that homeobox genes are expressed in order both spacially and temporally: 3’ end of the homeobox cluster is expressed FIRST and CRANIALLY; downstream genes are expressed LATER and CAUDALLY

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10
Q

Symptoms and biochemical (not genetic) causes of Angelmans

A

symptoms: developmental disorders and intellectual disability, lack of speech, laughter, gait disturbance, seizures, hypopigmentation.
missing UBE3A, which codes for E3 that attaches ubiquitin to proteins for degradation. too much developmental noise

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11
Q

Coloboma-renal syndrome

A

Pax2 mutation. they have off center irises

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12
Q

Aniridia

A

no iris
associated with cataracts and foveal hypoplasia
Pax6 mutation

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13
Q

ubiquitin pathway

A

ubiquitin is attached to E1 in an ATP dependent manner. E1 associates with E2 and E3 complex. ubiquitin transferred to the E2/E3 complex. target protein containing a degradation signal is bound to the E2/E3 compled and ubiquitin is added to the target. E1/ubiquitin can then add to this chain. protein is moved to the proteosome.

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14
Q

neurofibromatosis type I (NF1). symptoms

A

cafe au lait spots, freckingl, neurofibromas, iris nodules and optic gliomas, dysplastic bones

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15
Q

neurofibromatosis type I biochemistry

A

gene codes for neurofibromin. This is a GTPase activating protein (GAP). GAP inactivates ras-GTP. overly active Ras-GTP leads to a decrease in cell growth control and tumors

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16
Q

diastrophic dysplasia

A

problem with a sulfate transporter that leads to severe skeletal dysplasia

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17
Q

Noonan syndrome

A

turner-like phenotype with pulmonic stenosis and developmental delay. caused by a mutation in PTPN11. t his also helps play a role in Ras signaling. it is an example of a kinase/phosphorylase mutation

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18
Q

defective enzyme in SLOS

A

7 dehydrocholesterol reductase

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19
Q

genetic heterogeneity. an example

A

multiple genetic causes for the same syndrombe because pathways are interconnected. example is Waardenburg

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20
Q

4 types of waardenburg

A

Pax 1 and 3 mutations
or MITF, a downstream target of PAX3 important for melanocyte development and neural crest function and chochlear issues.
END3 or ENDRB: survival facotrs for migrating neural crest cells. has neurological consequences

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21
Q

FGF receptor structure

A

ligand binding domain and 3 immunoglobulin like domains that form loop structures held together by intrachain disulfide bonds between cys residues.

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22
Q

role of heparin sulfate in FGF and FGFR binding

A

FGFs near the surface bind to heparain S domain.
S domain then binds the lys rich region of the second immunoglobulin like domain on FGFRs. this helps bring FGFs and FGFRs close together

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23
Q

Wha would happen if you lost cys residues in the FGFR?

A

you wouldn’t see as many intrachain disulfide bonds, so my might see more interchain bonds and a greater affinity for dimerization among FGFRs

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24
Q

What do FGFs do at cranial sutures?

A

increase osteoblast activity

25
dolicephaly or scaphocelphaly
premature sagittal suture- elongated head shape
26
trigonocephaly
premature metopic suture closure (between the frontals). anterior head narrowing
27
brachycephaly
both coronal or lamboids close. lateral widening, shorta anterior/posterior diameter.
28
plagiocephaly
single coronal or lamboid suture closure leading to asymmetric head shortening.
29
Apert syndrome
cranisyntosis, syndactyly, heart disease, FGFR2 mutation
30
Pfeiffer syndrome
craniosynotosis, prominent thumbs and big toes, distinctive facial features caused by FGF3 mutation
31
achondroplasia protein mutation
FGFR3 problems
32
thanatophoric dysplasia
causes stillbirths and infant deaths because of resp failure.
33
leukocoria
common clinical finding of retinoblastoma, though not required
34
Li-Fraumeni syndrome
SBLA cancer (sarcoma, leukemia, breast, adrenal gland) cancer syndrome mutation of TP53 gene dominant disorder involves cancer diagnosis before 45, one first degree and one other first or second degree relative with cancer diagnosis aggressive screening
35
Ataxia telangiectasia
involved with ATM gene. ATM phosphorylates p53 and BRAC1. it is important in the G1/G2 and G2/M checkpoints ataxia telangiectasia is autosomal recessive disease symptoms: progressive cerebellar ataxia, abnormal eye movements, oculocutaneous telangiectasia (often mistaken for CP); immune defects sinopulmonary tract ends with dysarthria and dysphagia in 20s
36
Chronic myelogenous leukemia
Often associated with ABL gene translocations to much more constiutively expressed chromosomes. Philadelphia chromosome is a t9:22 translocation. fatigues is most common complaint
37
HER-2 or ERBB-2
receptor tyrosine kinase gene proto-oncogene often associated with breast and ovarian cancers pathway: epidrmal growth factor signaling target of trastuzumab
38
trastuzumab
HER-2 receptor monoclonal antibody for breast cancer. modest survival increase but also have large costs and cardiotoxicity
39
imatinib
Bcr-abl tyrosine kinase inhibitor that is super helpful against chronic myelogenous leukemia with Philadelphia chromosome.
40
RET
cancer type: medullary thyroid carcinoma cancer predisposition syndrome: multiple endocrine neoplasia type 2 molecular function: receptor tyrosine kinase pathway: glial0-derived neurotrophic growth factor pathway (GDNF) proto-oncogene fain of function leads to oncogenesis; loss of function leads to Hirschsprung disease (colon immobility)
41
MYC
cancer type: lymphomas, neuroblastoma, and small cell lung carcinoma molecular function: transcriptional regulators pathway: many proto-oncogene importance: c0myc activation via chromosomal translocations found in Burkitt's lymphoma, Nymic amplification in neuroblastoma is associated with poor prognosis, L-myc gene amplification found in many small cell lung carcinomas
42
BCL2
``` Cancer: B cell lymphoma molecular function: anti-apoptosis pathway: apoptosis proto-oncogene activated in B cell lymphoma due to a chromsomal translocation ```
43
RAS
cancer: many, esp. pancreatic and colorectal, myeloid leukemia, and bladder molec function: signal regulator pathway: signal pathways, esp. receptor tyrosine kinases proto-oncogene
44
ABL
cancer: chronic myelogenous leukemia molec function: non-receptor tyrosine kinase proto-oncogene Bcr-Abl in crhomsomes 9 and 22 in philadelphia chromosome imatinab/gleevac is a targeted therapy
45
RB
cancer: retinoblastoma, osteosarcoma syndrome: familial retinoblastoma cell cycle regulator tumor suppressor un-phosphorylated pRB binding to E2F represses the expression of genes needed for the F to S progression of the cell cycle
46
TP53
many cancers Li-Fraumeni Syndrome function: transcriptonal regulator/pro-apoptotic protein involved in cell cycle progression, apoptosis, metastisis tumor suppressor gene
47
APC
cancer: colorectal cancer-predispostion: familial polyposis (APC) molecular function: signal regulator, mitotic spindle binding protein pathway: Wnt; cell cycle Tumor suppressor mutated in most colorectal cancers
48
Wnt
- Signaling glycoprotein that binds the frizzled family of cell surface receptors - Frizzled associates with LDL receptor related proteins (LPR). Together, they form a complex. Canonical pathway and beta catenin a. Cytoplasmic beta catenin usually associates with a complex made of GSK-3beta, APC protein, and a scaffold. b. Complex phosphorylates cytoplasmic beta catenin c. Phosphorylation is a signal leading to ubiquitinyation and protein degradations d. When bound to Wnt, frizzled-lrp is activated, which activates protein Dishevelled e. Dishevelled inhibits the activity of GSK-3beta, so beta catenin sticks around. f. Beta catenin gets to the nucleus and activaes target genes by displacing protein Groucho and facility the regulatory protein LEF1/TCF g. Target gene includes c-myc h. APC mutations  independence from Wnt signal and uncontrolled cell growth
49
NF1
cancer: neurofibrosarcoma, brain tumors predisposition syndrome: neurofibromatosis type I molec function: signal regulator pathway: receptor tyrosine kinases tumor suppressor remember, it is an activator of the GAP needed to inactivate ras by taking away GTP
50
NF2
cancer: acoustic neuroma, meingioma, glioma, schwannoma predisposition syndrome: neurofibromatosis type 2 molec funtion: cytoskeletal protein pathway: cell adhesion effect: tumor suppressor mutation leads to loss of coordination btw growth factor signaling and cell adhesion
51
CDKN2A
cancer: melanoma, glioma, leukemia, bladder cancer, head and neck cancer predisposition syndrome: familial melanoma function: cell cycle inhibitor pathways: cell cycle progression effect: tumor suppressor
52
WT1
Cancer: Wilms predisopostion: familial wilms tumor, WAGR, denys-drash molec function: transcriptional regulator tumor suppressor deleted as part of the contingous gene syndrome WAGR (wilms tumor, aniridia, gential hypoplsia, retardation);
53
PTCH (patched)
cancer: basal cell carcinoma, medulloblastoma predisposition: basal cell nevus syndrome aka gorlin syndrome function: cell surface receptor pathwya: Shh effect: tumor suppressor
54
VHL
cancer: renal, pheochromocytoma predisposition syndrome: Von Hippel-Lindau function: ubiquitin ligase complex pathwya: angiogenesis (prevents HIF-1 accumulation) tumor suppressor Von Hippel Lindau is an autosomal dominant syndrome of cerebral heangioblastoma, retinal angioma, and renal cysts and carcinoma
55
CDH1 (e-caherin)
cancer: gastric predisposition: familial gastric cancer function/pathway: cell adhesion tumor suppressor loss of function occurs late in many cancers to allow for invasion and metastisis
56
BRCA1
cancer: breast, ovarian, prostate, pancreatic predisposition: familial breast and ovarian cancer function: mediator of ds break repair and transcription tumor suppressor gene/dna repair gene
57
BRCA2
cancer: breast and ovary, pancreatic and prostate familial breast and ovarian cancer ds break repair and transcription regulation homozygous mutation causes faconi pancytopenia syndrome, which consists of pancytopenia, radial anomaly, short stature, and increased leukemia risk.
58
ATM
cancer: lymphoma predispositon: ataxia telangiectasia function: protein kinase; mediator of ds break repair pathway: dna repair and cell cycle progression phosphorylates p53 and BRCA1. homozygous mutation leads to ataxia telangiectasia
59
MLH1, MSH2, MSH6, PMS2
cancer: colorectal and GI, endometrial, ovarian, biliary syndrome: Lynch/HNPCC function: mismatch repair

MTC (11 decks)

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