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FDN Facts Flashcards

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1
Q

Essential Fxns of mitochondria

A

Biosynthesis of: heme, a.a, n.t., steroid hormones… ATP synthesis, oxidation of fatty acids, apoptotic cell death

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2
Q

Does mitochondrial protein encoded more by nuclear genome or mitochondrial genome?

A

95% nuclear genome synthesized in cytosol, 13 mitochondrial protein (for ETC), large and small rRNAs/tRNAs made in mitochondria matrix encoded by mitochondrial DNA

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3
Q

Mitchondrial genetic code differs from nuclear code: UGA, AGA, AUA

A

tryptophan, STOP not Arginine, methionine not Isoleucine

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4
Q

13 mt. proteins

A

2 of 46 complex 1 (ND#s), 1 of 11 Complex III, 3of 13 Complex IV, 2 of 16 Complex V (ATPase)

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5
Q

threshold effect varies on…

A

affected tissue, nuclear genetics of individual, age, environment, nutrition. Every tissue has a different tolerance to mutant mitochondria dependent on the tissues energy needs.

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6
Q

Transgenic mice (added mutant mt. DNA Pol G (gamma). List types of abnormalities that are caused…

A
  1. 3-5 fold increase in somatic mtDNA point mutation
  2. weight loss
  3. reduced subcutaneous fat
  4. alopecia (hair loss)
  5. kyphosis
  6. osteoporosis
  7. anemia (20% lower than WT)
  8. reduced fertility
  9. heart enlargement
  10. reduced lifespan
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7
Q

Indications for prenatal Diagnosis (Screening)

A
  1. spontaneous abortions
  2. age >35 yo
  3. Family HX ID or Developmental Delay
  4. Fetal Anomalies on Ultrasound
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8
Q

Cystic Fibrosis Clinical Features (4) and mode of inheritance

A

Autosomal recessive

  1. Clogged and infected airways
  2. GI problems: pancreatic duct dysfunction, plugged bile ducts, meconium ileus
  3. Bilateral absence of the vas deferens (male infertility)
  4. Salty sweat
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9
Q

Cystic Fibrosis Deletion

A

Delta F508, deletion of TCT or CTT. 3bp deletion encoding Phenylalanine (hydrophobic a.a)

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10
Q

Duchenne Muscular Dystrophy mode of inheritance and clinical features

A

X-Linked Recessive

  1. High levels of CPK in blood (muscle damage)
  2. Proximal muscle hypertrophy and degeneration, respiratory failure
  3. Frequent cardiomyopathy and sudden death
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11
Q

Trisomy 21

A

Epicanthal folds, upslanting palpebrae, small ears, single palmar creases, septal heart defects and moderate intellectual disabilities.

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12
Q

Trisomy 18:

A

Intrauterine growth retardation, bird-like facies, clenched fists, rocker bottom feet, severe mental intellectual disabilities and poor survival.

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13
Q

Trisomy 13:

A

Intrauterine growth retardation, holoprosencephaly (prosencephon is the forebrain and in Trisomy 13 it to develop into two hemispheres), seizures, micro-ophthalmia, oro-facial clefts, polydactyly (extra finger and/or toes), severe intellectual disabilities and poor survival.

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14
Q

DiGeorge / velo-cardio-facial syndrome (deletion 22q11.2)

-Contiguous deletion syndrome

A

Hypocalcemia, long narrow face, long tapered fingers, T-cell defects leading to immunodeficiency, conotruncal heart defects and mild intellectual or learning disabilities.

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15
Q

Turner syndrome (XO)

A

Short stature, ovarian dysgenesis (infertility), webbed neck, coarctation of the aorta and possible learning or visual spatial disabilities.

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16
Q

Klinefelter syndrome (XXY):

A

Tall stature, infertility, gynecomastia (breast development in a male), mild learning disabilities and increased risk for behavioral problems.

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17
Q

Triple X (XXX)

A

Normal physical features, normal fertility (except for possible early menopause), mild learning disabilities with increased risk for psychiatric disorders.

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18
Q

XYY

A

Tall stature, normal physical appearance, normal fertility, mild learning disabilities and increased risk for behavioral problems.

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19
Q

Signs of Chromosome Abnormalities

Prenatal
Infancy/Childhood
Adulthood

A

IUGR, MCA, hydrops/edema

MCA,SS,ID,unusual facial features,LD, ADHD

LD, SABs, infertility or stillbirths

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20
Q

Anatomy of cytogenic Variation: Fools Believe Genes are Disposable

A

facial features, birth defects, growth retardation, development problems

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21
Q

Wolf-Hirschhorn (4p-)- terminal deletion

A

F: helmet nose, arched eyebrows
B- oro-facial clefts
G- microcephaly

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22
Q

thrombophilia, pulmonary embolisms and increases in blood clotting protein activity

A

Factor V and Prothrombin gene variants (Both part of common pathway).

1/2 of DVT caused by genetics

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23
Q

Long QT Syndrome (LQT

A

genes especially those coding K+ and Na+ channels and cardiac arrhythmias

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24
Q

Cardiopathy condition and cardiac muscle protein gene variants? TX?

Arrhytmias condition and genes affected result in? TX?

A

Hypertrophic cardiomyopathy and MYBPC and MYH7. Genotyping array to identify defective gene, drug and gene therapy, implanted defibrillators, test normal family members, test athletes

Long QT syndrome with the outcome of affecting Na+/K+ pumps. pacemaker and drugs

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25
Early onset familial Alzheimer’s... 5% of disease. Inheritance pattern?
APP (Amyloid precursor protein, Presenilin 1 and | Presenilin 2. Autosomal Dominant
26
Late onset Alzheimers... 95% of disease
ApoE2 protective and E4 increased risk!!! Polymorphic predisposition alleles. Increased with E4/E4
27
Obesity and diabetes (Related diseases). Low or high penetrance genes involved?
Leptins, complex regulatory network, many genes. Issues with fat and sugar metabolism. Many low penetrance genes.
28
Factor V Leiden
Do not inactivate Factor V fast enough thus continue blood clotting cascade
29
DVT Genetic Risk: Factor V Leiden exhibits what mutation?
G to A (GLN-->Arg) | -inactivation by protein C is rare and heterozygotes are 5X more at risk
30
DVT Genetic Risk: Prothrombin exhibits what mutation?
G to A in 3' UTR. Risk is 3X higher in heterozygotes
31
Dealing with Thrombophilia TX and Screening:
Test for two mutations, asprin, coumadin, heparin, avoid extended immobility and estrogen birth control
32
Cells needs 4 things
1. GFs 2. TKR 3. intracellular transducers (RAS,MEK, ERK) 4. Transcription factors to dictate gene expression
33
Non-receptor protein kinases for intracellular signal transducers Transcription factors ex.s
G-proteins, non-receptor protein kinases, serine-threonine protein kinases myc, fos, jun
34
p53 as transcription factor elevates (3):
1. expression of a CDK (p21) leading to G1 arrest, 2. expression of DNA repair genes, 3. expression of "pro-apoptotic" genes
35
p53 as cytoplasmic factor (1)
binds to and antagonizes "anti-apoptotic protein" at the mitochondrial surface
36
Centromere alpha and beta bp #? where are the alpha and beta satellites found?
171, 68 | Are found in other places of the genome but not imprinted to form kinetechores.
37
``` SNP - Indel CNV VNTR SSR RFLP ```
single nucleotide polymorphism (occur at 1% in population and allows to draw genomic distinctions/linkages). Also can be used to genotype a person -insertion/deletion copy number variant- large deletion or duplication 50Kb-12Mb. Occurs with unequal crossing over. Chromosomes not lining up properly. Many are DE NOVO!!!; some are inherited variable number tandem repeat (minisatellites): 10-100 tandem nt repeats. less common compared to SSR esp. for profiling individuals. Unequal crossing over changes up VNTR and SSR. simple sequence repeat (microsatellites)- best kind of marker for profiling individuals. It is a type of VNTR normally of 1-6 tandem nt repeats restriction fragment length polymorphism (SNP in a restriction site)
38
functional polymorphisms | mutation
SNP in genes (Factor II &V), some CNVs. | Missense (CF) and microdeletion (PWS)
39
Autism possibly linked to ?
CNVs with small 100Kb deletion or 12.5Mb duplication
40
Cytochrome p450 genes (CYP) encode what enzymes to catalyze what? Why are they important for pharmacogenetics? Ultrametabolizers have mutiple copies of what gene?
–RH2+ O2+ NADPH + H+ --> ROH + H2O + NADP –Act primarily as hydroxylases and methyl oxidases. Normla fxn is to metabolize xenobiotics (foreign biological molecules) and toxic compounds in liver - In medicine they are the primary enzymes in drug metabolism. Activates/Eliminates drugs. -CYP2D6 gene... Alleles include CYP2D6-1 to 17
41
Drugs to be metabolized by which CYP?: Codeine (opiods) to ? and debrisoquine is a what type of drug and typically used to measure what ?
morphine and antihypertensive drug. collection of opiods is toxic to internal system. Debrisoquine needs to be modified to be degraded in liver and excreted. Thus the amount of degraded Debrisoquine measures the efficiency of CYP2D6 levels.
42
Which CYP to metabolize Warfarin?
CYP2C9. Must genotype CYP2C9 genotype before administering Warfarin.
43
Which CYP to metabolize Plavix (clopidogrel). Clopidogrel converted to what?
CYP2C19. Clopidogrel needs CYP2C19 to convert into active form 2-oxo-clopidogrel. FDA MUST RUN GENETIC TESTING for CYP2C19 before administering Clopidogrel (Plavix). If PM in CYP2C19 then use alternate therapy.
44
ischemia causes what a decrease of ATP leading to what?
1. decrease of Na+ pump--> increase Na+ influx, water, Ca+, efflux of k+ (All lead to swelling of cell) 2. detachment of ribosomes--> decrease protein synthesis 3. increase anaerobic glycolysis, decrease pH, clumping of nuclear chromatin
45
contributions to membrane damage (3) which are caused by what (3)?
1. phospholipid loss, lipid breakdown product, cytoskeleton products 2. decrease oxygen, influx of Ca2+, reactive species produced in reperfused ischemic tissues.
46
steaosis caused by what
with detachment of ribosomes the lipid protein acceptor is not well made and thus lipids are not successfully exported outside of liver.
47
thrush breast appearance
caused by fatty change in endocardium
48
mallory bodies bleb
1. is an inclusion found in the cytoplasm of liver cells. Mallory bodies are damaged intermediate filaments within the hepatocytes. 2. a protusion or bulge of the plasma membrane due to dissociation of cytoskeleton from plasma membrane.
49
CDKI CDK/Cyclin CDK>CDKI & CDK
1. p21Cip1, p27Kip1 2. Cyc D - CDK 4/6 Cyc E - CDK 2 Cyc A - CDK 2 3. hyperplasia, hypertrophy
50
what happens to the fat cells in acute pancreatitis?
acute pancreatitis the enzymes leak out and attack the fat cells
51
Bcl-2 superfamily proteins
1. Anti-apoptotic or Bcl-2 family proteins 2. Pro-apoptotic or Bax Family proteins 3. Pro-apoptotic “BH3-Only” Family
52
pyknosis (both) Karyolysis (only in necrosis) Karyorrhexis (both)
1. condensed chromatin 2. nuclear dissolution 3. nuclear fragmentation
53
A type of protease in PCD
Caspase....powerful proteases that target cytoplasmic, cytoskeletal and nuclear proteins. Caspases fragment chromosomal DNA by activating nucleases. CASPase- cysteine active site, and cut @ c' aspartates of target protein
54
All PCD pathways converge
at caspase activation
55
``` Executor Caspases (Caspase-3, -6, -7): exist as inactive “Pro-Caspases” that are activated by cleavage of the ```
“Pro” domain by activated Initiator Caspases (-8 or -9). Dimerize on a specific protein and, cleave of their Pro domain and from a tetrameric Caspase which proteolytically activate Caspase 3 (Cascade)
56
What is the key even of PCD?
Release of Cyt C from mitochondria through PT pore
57
Bcl-2 prevents Bax makes Bad helps
mt. pore formation mt. pore helps to make pore
58
Puma and Noxa release
Cyt C from mt intermembrane space
59
Apaf-1 oligomerization to the septameric | apoptosome requires
Cyt C, dATP & ATP.
60
Procaspase-9 (5-7 molecules) is recruited by | the
Caspase Recruitment Domain (CARD) on | the apoptosome
61
Procaspase-9 undergoes conformational | change enabling
auto-cleavage, and assembly | of tetrameric Caspase-9.
62
Caspase 9 cleaves
Pro-Caspase-3 to activate | Caspase-3
63
Death Ligands bind to and trimerize
Death Receptors, whose intracellular Death Domains | and associated factors (“Disc”) activate Procaspase-8, which then activates Caspase-3
64
activated Caspase-3
cleaves I-CAD (inhibitor of CAD) into CAD. CAD enters nucleus and cleaves nucleus.
65
Apoptotic Bodies promote | phagocytosis using
“Find-me” and | “Eat-me” signals
66
A major surface | determinant for apoptosis is
externalization of | phosphatidylserine which the phagocyte will bind to
67
Roles of p53 in Apoptosis
As a transcription factor it promotes pro-apoptotic proteins and decrease anti-proapoptotic proteins like Bcl-2. Mostly works intrinsic pathway. Some evidence that in the cytoplasm it binds anti-proapoptotic proteins.
68
HWE
p2+ 2pq + q2= 1
69
disease incident for Autosomal Dominant
about 2q, you won't have homozygous thus genotype has to be 2pq but p is almost 1 thus we get rid of it
70
In serious dominant and X-linked disease | new mutations represent
SIGNIFICANT PORTIONof disease.
71
the contribution | of new mutations to recessive disease?
Little affect
72
Disease incidence
observed disease
73
CGH detects | CRH detects
CNV | functional SNP that affect mRNA levels
74
Adenovirus vs retrovirus | CGH vs CRH
Adenovirus: Advantages • high efficiency infection • infects non-growing as well as proliferating cells • does not integrate into host genome, therefore low risk of insertional mutagenesis Disadvantage • transient expression and immune/ inflammatory reactions upon reapplication of therapeutic gene containing virus Retrovirus Advantages • high efficiency infection in bone marrow and other actively growing cells but infects non-growing cells poorly • integrates into the host genome, so can achieve long term expression Disadvantage • insertional mutagenesis is a significant concern CRH- molecular stratification of tumors CGH- mental retardation, developmental delay, autism and dysmorphic features
75
Fragile X- express noFMR-1 mRNA due to CpG hypermethylation in 5’UTR; FX is a loss of function disorder
X-linked dominant. Sherman paradox (50-100CGG 5'UTR) are premature carriers. The premutation expands in women but not in men. Men do not pass on disease to women. Full expression of disease requires >200 CGG repeats.
76
myotonic dystrophy: CTG repeat in 3' UTR: gain of function disease due to toxic mRNA
Autsomal Dominant: Disease due to CTG triplet expansion in the 3’UTR* of DM-1 gene ( DMPK ) •Under 40 CTG is normal. Over 40 CTG repeats have symptoms •Variable age of onset and severity of neuromuscular degeneration correlates with size of CTG expansion
77
comparison of FX, DM, HD (autosomal dominant)
``` FX Loss FMR-1 CGGin 5’UTR 8 –50 50 –100 normal >1000 severe ``` ``` DM Gain DMPK-1 CTGin 3’UTR 8 –50 50 –100 mild >1000 severe ``` ``` HD Gain ? CAGin ORF 8 –50 50 –100 severe prenatal lethal ```

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