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cellular biochem and genetics Flashcards

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1
Q

M phase

A

mitosis and cytokinesis

shortest phase

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2
Q

CDK

A

constitutive

inactive

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3
Q

cyclins

A

phase specific

activate CDKs

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4
Q

cyclin-CDK complex

A

phosphorylate other proteins to coordinate cell cycle progression
must be activated and inactivated at appropriate times for cell cycle to progress

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5
Q

tumor supressors

A

p53
hyophosphorylated Rb
inhibit G1 -> S progression
mutated -> LiFraumeni syndrome

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6
Q

permanent cells

A

remain in G0
regenerate from stem cells
neurons, skeletal and cardiac mm
RBCs

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7
Q

stable/quiescent cells

A

enter G1 when stimulated
hepatocytes
lymphocytes

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8
Q

labile cells

A

never go to G0
divide rapdily w/short G1
most affected by chemo
skin, hair, bone marrow, GI lining, germ cells

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9
Q

RER

A

synthesis of secretory proteins
Nissl bodeis (RER in neurons) synthesis NTs
mucus-secreting goblet cells and AB secreting plasma cells have a lot

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10
Q

Free ribosomes

A

cytosolic and organellar proteins

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11
Q

SER

A

site of steroid synthesis and detox of drugs and poisons
lack surface ribosomes
liver hepatocytes and steroid hormone producing cells

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12
Q

signal recognition particle (SRP)

A

abundant, cytosolic ribonucleoprotein that traffics proteins from the ribosome to the RER
if absent proteins accumulate in cytosole

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13
Q

vesicular trafficking proteins

A

COPI, COPII, Clathrin

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14
Q

COPI

A

golgi -> golgi (retrograde)

cisGolgi -> ER

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15
Q

COPII

A

ER -> cisGolgi (anterograde)

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16
Q

clathrin

A

transGolgi -> lysosomes

plasma membrane -> endosomes

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17
Q

peroxisome

A

catabolism of very long chain fatty acids
brr-chain fatty acids
aa

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18
Q

proteasome

A

barrel-shaped protein complex, degrades damaged or ubiquinated proteins
defects implicated in parkinsons

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19
Q

I-cell disease

A

inclusion cell disease
inherited lysosomal storage disorder
defect in N-acetylglucosaminyl-1-phosphotransferase -> failure of goligi to phosphorylate mannose -> proteins excreted extraceullularly rather then into lysosomes

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20
Q

clinical features of I-cell disease

A 
coarse facial features
clouded corneas
restricted joint mvmt
high plasma levels of lysosomal enzymes
often fatal in childhood
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21
Q

microfiiliments

A

mm crontraction
cytokinesis
actin

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22
Q

intermediate filaments

A 
cell structure 
vimentin
desmin
cytokeratin
lamins
GFAP
neurofilaments
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23
Q

microtubules

A 
mvmt, cell division
cilia
flagella
mitotic spindle
axonal trafficking
centrioles
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24
Q

vimentin stain

A

CT

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25
desMin stain
mm
26
cytokeratin
epi
27
GFAP
neuroGlia
28
neurofiliaments
neurons
29
microtubules anatomy
polymerized heterodimers of alpha and beta tubulin | each dimer has 2 GTP bound
30
dynein
retrograde (+ -> -)
31
kinesin
anterograde (- -> +)
32
drugs that act on microtubules
``` Microtubules Get Constructed Very Poorly Mebendazole (anithelminthie) Griseofulvin (antifungal) Colchicine (antigout) Vincristine/Vinblastine (antiCA) Paclitaxel (antiCA) ```
33
Cilia structure
9+2 arrangement of microtubule droplets
34
kartagener syndrom
``` aka primary ciliary dyskinesia immotile cilia d/t dynein arm defect male and female infertility increased risk for ectopic brochiectasis, recurrent sinusitis situs inversus ADPCKD ```
35
oubain
inhbits NA/K ATPase by binding K site
36
cardiac glycosies
digoxin/digitoxin | directly inhibit Na/K ATPase -> indirect inhbition of Na/Ca exchange -> increased Ca -> increased contractility
37
Collagen
Be So Totally Cool, Read Books I- Bone, skin, tendon (late wound repair) II- Cartilage (vitreous body, nucleus propulsus) III- Reticulin, skin, blood vessels, granulation tissue IV- BM, basal lamina, lens (type IV under the floor-BM)
38
decreased type I collagen production
osteogenesis imperfecta type I
39
vascular type of Ethers Danlos
uncommon | type III deficient
40
alport syndrome
type IV defective
41
collagen synthesis inside fibroblast
synthesis in RER -> preprocollagen hydroxylation in RER (requires Vit C) glycosylation in RER -> precollagen (osteogenesis imperfecta) exocytosis
42
collagen synthesis outside fibroblast
proteolytic- cleavage of disulfide rich terminal regions -> tropocollagen cross linking -> requires Cu (Menkes disease, ED)
43
osteogenesis imperfecta
brittle bone disease most common AD decreased production of normal type I collagen fracture, blue sclera, hearing loss, fental imperfections
44
Ethers Danlos
AD or AR | associated w/joint dislocaton, berry/aortic aneurysms, organ rupture
45
types of ED
- hypermobility type, most common, joint instability - classical type mutation in type V collagen, joint and skin - vascular type deficient type III collagen, vascular and organ rupture
46
menkes disease
``` XR impaired Cu absorption and transport defective menkes protein (ATP7A) decreased lysyl oxidase activity brittle, kinky hair, growth retardation, hypotonia ```
47
Elastin
rick in nonhydroxylated proline, glycine, and lysine | broken down by elastase which is normally inhibited by alpha 1 anti-trypsin
48
marfans
misfolded fibrillin-1 | glycoprotein that forms sheath around elastin
49
Blotting procedures
SNoW DRoP Southern = DNA Northern = RNA Western = protein
50
locus heterogenity
mutations at different loci can produce same phenotype | albinism
51
allelic heterogenity
different mutations in same locus produce same phenotype | beta thalassemia
52
heteroplasmy
presence of both normal and mutated mtDNA | variable expression in mitochondrially inherited diseases
53
prader-willi
maternal imprinting (moms usually silent) Paternal deleted hyperphagia, obesity, retardation. hypogonadism, and hypotonia 25% d/t maternal uniparental disomy
54
angleman
``` paternal impriting (dads usually silent) maternal deleted inappropriate laughter, seizures, ataxia, severe intellecutual disability 5% d/t paternal uniparental disomy ```
55
mitochondrial myopathies
rare disorder often presents w/myopathy, lactic acidosis, and CNS disease secondary to failure in ox phos mm Bx- ragged red fibers
56
ADPKD
85% d/t mutation in PKD1, chrom 16 (16 letters in polycystic kidney) 15% d/t mutation in PKD2 (chrom 4)
57
familial adenomatous polyposis inheritance?
AD
58
familial hypercholesterolemia inheritance?
AD
59
albinism inheritance?
AR
60
hereditary hemorrhagic telangiectasia inheritance?
AD
61
cystic fibrosis inheritance?
AR
62
glycogen storage diseases inheritance?
AR
63
hemochromatosis inheritance?
AR
64
hereditary sphrocytosis inheritance?
AD
65
Huntingtons inheritance?
AD
66
Kartagener syndrome inheritance?
AR
67
LiFraumeni syndrome inheritance?
AD
68
Marfan's syndrome inheritance?
AD
69
multiple endocrine neoplasia (MEN) inheritance?
AD
70
NF1 inheritance?
AD
71
mucopolusaccharidoses inheritance?
AR
72
phenylketonuria inheritance?
AR
73
NF2 inheritance?
AD
74
sickle cell inheritance?
AR
75
sphingolipidoses inheritance?
AR (except Fabry's)
76
Tuberous sclerosis inheritance?
AD
77
thalasemias inheritance?
AR
78
VHL disease inheritance?
AD
79
Wilson's disease inheritance?
AR
80
Familial adenomatous polyposis
AD colon becomes covered w/adenomatous polyps after puberty progresses to colon CA unless colon resected mutations on chrom 5 (5 letters in polyp) APC gene
81
familial hypercholesterolemia
``` AD elevated LDL d/t defective or absent LDL Rs tendon xanthomas (classically in achilles), corneal arcus ```
82
hereditary hemorrhagic telangiectadsia
AD aka Osler-Weber-Rendu sndrome telangiectasia, epistaxis, skin disocoloration, AVMs, GI bleds, hematuria
83
hereditary spheocytsis
``` AD spheroid RBCs, d/t spectin or ankyrin defect hemolytic ane ia increased MCHC, RDW Tx splenectomy ```
84
huntingtons
AD increased DA, decreased GABA and ACh gene on chrom 4 (hunting For 4 food) CAG repeats, anticipation
85
Li-Fraumeni syndrome
AD mutated TP53 -> multiple CAs at young age aka SBLA CA syndrome b/c get sarcomas, breast, leukemia, and adrenal gland CA)
86
Marfan's
AD FBN1 gene mutation on chrom 15 -> defective fibrillin-1 (scaffold for elastin) tall w/long extremities, pectus excavatum, hypermobile joints, arachnodactyl cystic medial necrosis of aorta -> aortic aneurysm Floppy mitral valve subluxation of lenses
87
MEN 1
``` AD pancreatic (gastinomas, insulinomas) pituitary parathyroid MEN1 gene ```
88
MEN 2A
``` AD parathyroid pheochromocytoma thyroid RET gene ```
89
MEN 2B
``` AD pheochromocytoma thyroid mucosal neuromas marfanoid body habitus RET gene ```
90
NF1
``` AD, 100% penetrance, variable expression aka von Recklinghausen cafe-au-laits spots cutaneous neurofibromas optic gliomas pherochromocytomas Lisch nodules (pigmented iris hamartomas) NF1 gene on chrom 17 (17 letters in von Recklinghausen) ```
91
NF2
``` AD b/l acoustic schwannomas juvenile cataracts mengingiomas ependymomas NF2 gene on chrom 22 ```
92
Tuberous sclerosis
``` Dx Triad: -Angiofibromas on face -Metal delays -Seizures a lot get cardiac rhadomyomas TSC1- hamertin TSC2- tuberin Ash leaf patch-shine woodslamp (UVA) -> fluoresces AD, incomplete penetrance, variable expression ```
93
VHL
numerous tumors, both benign and malignant | deletion of VHL gene on chrom 3
94
CF
CFTR on chrom 7 most common mutation -> misfolded protein -> decreased CL and H20 secretion N-acetylcystein loosen mucus plugs
95
x-linked recessive disorders
``` Be Wise Fool's GOLD Heeds Silly HOpe Bruton agammaglobulinemia Wischott-aldrich syndrome Fabry's G6PD deficiency Ocular albinism Lesch-Nyhan syndrome Duchenne and becker mm dystrophy Hunter Syndrome Hemophillia A and B Ornithine transcarbamylase deficieny ```
96
Duchenne
x-linked d/t frameshift truncated dystrophin weakness begins in pelvic girdle mm and progresses superiorly psuedohypertrophy of calf mm d/t fibrofatty replacement of mm Gower maneuver to stand waddling gait onset
97
Becker
x-linked d/t non-frameshift insertions partially functional less severe then duchennes onset in adolescene or early adulthood
98
mytonic mm dystrophy type 1
AD CTG repeat in DMPK gene myotonia, mm wasting, cataracts, testicular atrophy, frontal balding, arrhythmia My Tonia, My Testicles, My Toupee, My Ticker
99
Fragile X-syndrome
x-linked, CGG repeat affecting methylation and expression of FMR1 gene 2nd MCC of genetic intellectual disability (downs first) post-pubertal macroorchidism long face w/large jaw large ecerted ears autism MV prolapse Fragile X = eXtra large testes, jaw, and ears
100
trinucleotide repeat expansions
``` Try hunting for my fried eggs (X) huntingtons myotonic dystropy friedreich ataxia fragile X syndrome ```
101
down syndrome associations
``` gap btwn 1st 2 toes duodenal atresia hirschsprugs congenital heart disease (ASD) Brushfield spots early onset alxhemiers ALL and AML ```
102
down syndrome 1st trimester ultrasound
increased nuchal translucency and hypoplastic nasal bone serum PAPP-A is decreased free B-hCG increased
103
down syndrome 2nd trimester quad screen
decreaed alpha-fetoprotein increased beta-hCG decreased estriol increased inhibin A
104
Edwards syndrome
``` trisomy 18 severe intellectual disability rocker-bottom feet low-set ears celnced hands w/overlapping fingers prominent occiput congenital heart disease death w/in 1 yr ```
105
edwards 1st triemster
PAPP-A and free beta-hCG decreased
106
edwards quad screen
decreased alpha-fetoprotein decreased beta-hCG decreased estriol decreased or normal inhibin A
107
Patau syndrome
``` severe intellectual disability rocker bottom feet microphthalmia microencephaly cleft lip/palate holoprosencephaly polydactyly congenital heart disease cutis aplasia death w/in 1 yr ```
108
patau first trimester
decreased beta-hCG decreased PAPP-A increased nuchal translucency
109
Cri-du-Chat syndrome
congenital microdeletion of short arm of chrom 5 microcephaly moderate to severe intellectual disabiliyt high pitched crying/mewing epicanthal folds VSD
110
williams syndrome
``` microdeletion of long arm of chrom 7 distinctive elfin facies intellectual disability hypercalcemia well developed verbal skills, extreme friendliness w/strangers CV problems ```
111
DiGeorge
``` 22q11 deletions CATCH-22 Cleft palate abnormal facies thymic aplasia cleft palate hypocalcemia (secondary to parathyroid aplasia) velocardiofacial syndrome- only palate, facial, and cardiac ```

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