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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
Q

dolicephaly or scaphocelphaly

A

premature sagittal suture- elongated head shape

26
Q

trigonocephaly

A

premature metopic suture closure (between the frontals). anterior head narrowing

27
Q

brachycephaly

A

both coronal or lamboids close. lateral widening, shorta anterior/posterior diameter.

28
Q

plagiocephaly

A

single coronal or lamboid suture closure leading to asymmetric head shortening.

29
Q

Apert syndrome

A

cranisyntosis, syndactyly, heart disease, FGFR2 mutation

30
Q

Pfeiffer syndrome

A

craniosynotosis, prominent thumbs and big toes, distinctive facial features caused by FGF3 mutation

31
Q

achondroplasia protein mutation

A

FGFR3 problems

32
Q

thanatophoric dysplasia

A

causes stillbirths and infant deaths because of resp failure.

33
Q

leukocoria

A

common clinical finding of retinoblastoma, though not required

34
Q

Li-Fraumeni syndrome

A

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
Q

Ataxia telangiectasia

A

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
Q

Chronic myelogenous leukemia

A

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
Q

HER-2 or ERBB-2

A

receptor tyrosine kinase gene
proto-oncogene
often associated with breast and ovarian cancers
pathway: epidrmal growth factor signaling
target of trastuzumab

38
Q

trastuzumab

A

HER-2 receptor monoclonal antibody for breast cancer. modest survival increase but also have large costs and cardiotoxicity

39
Q

imatinib

A

Bcr-abl tyrosine kinase inhibitor that is super helpful against chronic myelogenous leukemia with Philadelphia chromosome.

40
Q

RET

A

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
Q

MYC

A

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
Q

BCL2

A 
Cancer: B cell lymphoma
molecular function: anti-apoptosis
pathway: apoptosis
proto-oncogene
activated in B cell lymphoma due to a chromsomal translocation
43
Q

RAS

A

cancer: many, esp. pancreatic and colorectal, myeloid leukemia, and bladder
molec function: signal regulator
pathway: signal pathways, esp. receptor tyrosine kinases
proto-oncogene

44
Q

ABL

A

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
Q

RB

A

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
Q

TP53

A

many cancers
Li-Fraumeni Syndrome
function: transcriptonal regulator/pro-apoptotic protein
involved in cell cycle progression, apoptosis, metastisis
tumor suppressor gene

47
Q

APC

A

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
Q

Wnt

A
  • 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
Q

NF1

A

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
Q

NF2

A

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
Q

CDKN2A

A

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
Q

WT1

A

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
Q

PTCH (patched)

A

cancer: basal cell carcinoma, medulloblastoma
predisposition: basal cell nevus syndrome aka gorlin syndrome
function: cell surface receptor
pathwya: Shh
effect: tumor suppressor

54
Q

VHL

A

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
Q

CDH1 (e-caherin)

A

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
Q

BRCA1

A

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
Q

BRCA2

A

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
Q

ATM

A

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
Q

MLH1, MSH2, MSH6, PMS2

A

cancer: colorectal and GI, endometrial, ovarian, biliary
syndrome: Lynch/HNPCC
function: mismatch repair

MTC (11 decks)

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