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M1 Block 3 > Week 3 > Flashcards

Week 3 Flashcards

1
Q

What leads should you not see Q waves?

A

Right side leads, V1-V3

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2
Q

What do changes in ST segment indicate?

A

Myocardial infarction

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3
Q

What is the difference between mutation and polymorphism

A
  • Mutation: rare change in the NT sequence, usually but not always a disease-causing attribute (<1% freq)
  • Polymorphism: A variation in the DNA sequence that occurs in a population with a frequency of 1& or higher
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4
Q

What is the difference between genome and chromosome mutation?

A
  • Genome mutation: chromosome missegregation
  • Chromosome mutation: chromosome rearrangement, ie. translocation
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5
Q

Which is the most common:
Chromosome mutation
Gene mutation
Genome mutation

A
  • Genome mutation is the most common due to for example chromosome missegregation
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6
Q

Transition and Transversion are both type of genetic base substitution. Differentiate the two:

A
  1. Transition: exchange base pair that is still in the same class, i.e. purine for purine or pyrimidine for pyrimidine
  2. Transversion: opposite, purine for pyrimidine
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7
Q

What is STEMI?
What is it associated with?

A
  • ST Elevation
  • Associated with coronary vessel total occlusion = MI
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8
Q

What does NSTEMI indicate?

A

non-ST elevation with ST depression or T inversion = partial coronary vessel occlusion

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9
Q

Hyperkalemia can induce what type of heart rhythms

A
  • Arrhythmias: V tac, V fib, Asystole
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10
Q

Describe EKG changes in hyperkalemia

A
  • Peaked T wave rather than rounded in precordial leads
  • Flattening or absence of P wave & prolongation of PR interval
  • Widening of QRS complex: more so in extremely elevated levels
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11
Q

Describe the appearance of EKG in hypokalemia

A
  • QT prolongation
  • U waves present
  • Shallow, non prominent T wave
  • ST Segment depression
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12
Q

What is Wolff-Parkinson-White syndrome?
What does the EKG look like?

A
  • Ventricular pre-excitation syndrome
  • Conduction pathway bypasses the rate-slowing AV node
  • Delta wave appearing resulting in widened QRS complex and shortened PR interval
  • can also transmit electrical impulses abnormally from the ventricles back to the atria
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13
Q

What is the most common arrhythmia associated with Wolff-Parkinson-White syndrome?

A

Paroxysmal Supraventricular Tachycardia

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14
Q

Describe visual EKG characteristics of A. fib

A
  • No P waves
  • Irregularly spaced QRS complex
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15
Q

Describe visual EKG characteristics of Atrial Flutter

A
  • Sawtooth P wave pattern due to back-to-back atrial depolarization waves
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16
Q

What are the EKG characteristics of First Degree AV Block:

A
  • Prolonged P-R segment
  • Benign, > 0.2 sec
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17
Q

Which type of heart block has two types?
What are they?

A

Second degree heart block has 2 types of
- Type I AKA Mobitz I AKA Wenckebach

  • Type II AKA Mobitz II
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18
Q

Describe EKG characteristics of Wenckebach AV block?
What type of block is this?

A

Wenkebach is Second degree AV block Type I
- Progressive elongation of PR interval
- Intermittent dropped beat (dropped QRS complex)
- variable R-R interval

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19
Q

Describe EKG characteristics of Wenckebach AV block?
What type of block is this?

A

Wenkebach is Second degree AV block Type I
- Progressive elongation of PR interval

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20
Q

Describe EKG characteristics of Mobitz Type II AV Block

A
  • Dropped QRS complex, not preceded by increasing PR interval
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21
Q

Describe the EKG characteristics of Third degree AV block

A
  • Atria & ventricles beat independently of each other
  • P waves & QRS complex not rhythmically associated with one another
  • Atrial rate > Ventricular rate such that there are more P waves than QRS complexes
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22
Q

When is EKG flat line considered Asystole?

A

When the flatline is > 6 seconds

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23
Q

What is a normal PR interval?

A

Between 0.12-0.2 secons

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24
Q

What is a normal QRS interval?

A

0.06-0.11 seconds

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25
Q

What are the EKG characteristics of A Fib?

A
  • No P waves
  • R-R interval is irregular
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26
Q

What is the regular QT interval on EKG?

A

0.36-0.44 seconds

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27
Q

When differentiating L & R heart axis deviation, what leads are being observed?
How to determine?

A
  • Use Leads I & Lead II
  • Using class method: Lead I is L thumb, Lead II is right thumb
  • If Lead I has POSITIVE QRS & Lead II negative QRS = Left axis deviation
  • If Lead II has POSITIVE QRS & Lead I has negative QRS = Right axis deviation
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28
Q

What does it indicate if looking Lead I & Lead II and both have negative QRS?
What could cause this?

A
  • Extreme axis deviation
  • Caused by misplaced limb electrone
  • V tach if QRS is wide
  • Rare
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29
Q

What conditions can cause L axis deviation?

A
  • Hypertrophy of L ventricle
  • HTN
  • Aortic stenosis
  • Aortic regurgitation
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30
Q

___________ axis deviation is normal in newborns.

A

Right axis deviation is normal in newborns

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31
Q

What conditions can cause R axis deviation?

A
  • Pulmonary HTN
  • Pulmonary Valve stenosis
  • Interventricular septal defect
  • Situs invertus
  • L posterior fasiscular block
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32
Q

What is the vertebrae level of highest point of the iliac crest

A

L4

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33
Q

What vertebrae level is PSIS?

A

S2

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34
Q

Sidebending comes from the ___________ spine while Flexion/Extension comes from _____________ spine.

A
  • Sidebending: Thoracic
  • F/E: Lumbar
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35
Q

Where is Ligamentum flavum?

A

Between laminae on the posterior surface of the vertebral canal

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36
Q

What thoracic vertebrae are the spine at the same level as their transverse process?

A

T1-T3 & T12

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37
Q

What thoracic vertebrae are the spinous process 1/2 level below the transverse processes?

A

T4-T6 & T11

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38
Q

What thoracic vertebrae are 1 whole level below their transverse process?

A

T7-T9 & T10

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39
Q

________________ contraction of the Rotatores muscles = Extension

A

Bilateral contraction of the Rotatores = Extension

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40
Q

What is the significance of the posterior longitudinal ligament in the thoracic vertebrae?

A

Prevents central disc herniation which is worse than 1 sided disc herniation

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41
Q

_________________ Contraction of the Rotatores muscles = rotation to the opposite side

A

Unilateral

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42
Q

Type I dysfunction can be attributed to what thoracic muscles?

A

Erector spinae

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43
Q

What is “BUL”

A

Orientation of thoracic superior facet
Backward, Upward, Lateral

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44
Q

Compare the articulation of rib to vertebrae vs vertebrae to rib

A
  • Rib: transverse process and body of the same # vertebrae, the body of the vertebrae above
  • Vertebrae: the same # rib & the rib below
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45
Q

T/F: Rib one is the only exception to rib articulation rules. Such that Rib 1 articulates only with T1

A

False, while Rib 1 only articulates with T1

Ribs 10-12 articulate with only same vertebrae
Ribs 11-12 do not articulate with transverse process

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46
Q

Where do Anterior and Middle scalene attach?
What is their purpose?

A

Ant & Middle attach to Rib 1 & lift ribs up for respiration

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47
Q

Where does posterior scalene muscle attach? What is its action?

A

Attaches to second rib
Elevation of rib for respiration

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48
Q

Which type of ribs are pump handle ribs?
What is pump handle movement?

A
  1. True ribs that attach to the sternum
  2. Open and close ribs anterior and posterior
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49
Q

What ribs are bucket handle ribs?
What is the purpose of this motion?

A
  • Opens ribs laterally on the transverse axis
  • All ribs have pump and bucket, lower than rib 7 more and more
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50
Q

What is exhalation dysfunction

A
  • Anterior of the rib is stuck downward = inhalation restriction
  • Posterior of rib is stuck up
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51
Q

Describe inhaled dysfunction

A

Stuck up in anterior
Down in posterior
Exhale restriction

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52
Q

Ribs 11 & 12 rib dysfunction are most related to:

A
  • Little to do with respiration
  • Moreso quadratus lumborum & postural
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53
Q

Describe the movement of Rib 11 & 12

A

Backwards and forwards

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54
Q

What is REX BITE LIN

A
  • R ribs = Exhaled
  • Bottom Rib = Inhaled
  • Top rib = Exhaled
  • L rib = inhaled
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55
Q

In inhalation rib dysfunction, which rib is the “key” rib?

A
  • Inhalation dysfunction, anterior stuck upwards
  • Bottom rib is “key” rib
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56
Q

In exhalation dysfunction, which rib is the “key” rib?

A
  • Exhalation dysfunction, anterior stuck downwards
  • Top rib is the “key” rib
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57
Q

Describe EKG characteristics of SVT

A
  • Regular Rhythm
  • HR b/t 150-200
  • P wave merged with T wave
  • PR interval normal if seen
  • QRS complex normal
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58
Q

What are common organ targets for in vivo gene therapy?

A

Eye
Brain
Liver
Skeletal muscle

59
Q

What are some common cell types that are used in Ex Vivo gene therapy?

A
  • Stem cells
  • B cells
  • T cells
  • Natural killer cells
60
Q

For blood related genetic disorders, what is the preferred therapy?

A

Ex-vivo gene therapy

61
Q

List 3 types of vectors that deliver therapeutic genes to the body
Overall, what do these vectors do?

A
  1. RNA viruses (Retrovirus)
  2. DNA Viruses
  3. Non-viral vectors

They deliver wild type genes to the body

62
Q

List 3 types of RNA viruses used in gene therapy

A
  1. γ-Retrovirus (Murine leukemia virus)
  2. Lentivirus (LVV)
  3. Human T-cells lymphotropic viruses
63
Q

List 3 types of DNA viruses that are used to deliver gene therapy

A
  1. Adenovirues
  2. Adeno-associated viruses (AAV)
  3. Herpes simplex virus (HSV)
64
Q

Why are non-viral vectors not often used to deliver therapeutic genes?

A

They are not very powerful

65
Q

One disadvantage of retroviruses is that their ability to infect cells can be limited, explain

A
  1. Gamma-retrovirus can only infect dividing cells
  2. Lentivirus (LVV) can only infect d + nondividing cells
66
Q

How are retroviruses used?
Are they in vivo or ex vivo use?

A
  • Viruses insert their RNA, in the form of reverse-transcribed DNA, into the chromosomes of cells
  • Retroviruses can transverse nuclear membranes
  • Use in ex-vivo due to risk of oncogenesis in in vivo use
67
Q

List 2 advantages of retroviruses & 1 disadvantage

A

1A. Wide host range
2A. Long term expression of transgene so only needs to be injected once
1D. Cannot be used for large sized genes

68
Q

What cell types are adenoviruses best used for in gene therapy? Why?

A
  • Adenoviruses are used in neurons & muscle cells
  • Adenoviruses can invade cells that are not dividing
69
Q

Contrast Retroviruses and DNA viruses use to deliver theraputic genes

A
  • Retroviruses insert into the chromosomes and thus do not need repeat injections
  • Adenoviruses do not insert their DNA into host & thus requires repeat injections
  • Adenoviruses can be used in vivo
  • Retroviruses are used ex-vivo
70
Q

T/F: Adenoviruses can be modified to disallow an immune response due to requiring repeated injections. This is because they do not insert their DNA in to the host DNA, so the inserted gene is lost

A
  • 1/2 False, they do invoke immune response

-The remaining is true

71
Q

What are Adeno-associated viruses?

A
  • A type of ss DNA virus that is dependent on helper viruses
  • The vectors integrate stably into the host’s DNA, and they are known to cause disease in humans
72
Q

What are the advantages of Adeno-associated viruses ( AAV) location integration

A
  • stable integration into genome in CHROMOSOME 19 only which makes it predictable for use and allowable use in vivo
73
Q

List advantages and disadvantages of Adeno-Associated viruses (AAV)

A
  • Not assoc. w/disease
  • can obtain high titer virus stocks
  • small genome easy to manipulate
  • infects both dividing and non-dividing cells
  • Disadvantage: can only insert a small DNA sequence
74
Q

What is LVV?

A

Lentivirus which is a type of DNA virus

75
Q

What are some characteristics of retinitis pigmentosa (RP)?

A
  • Night blindness
  • Tunnel vision (due to loss of peripheral vision)
  • Latticework vision
76
Q

What is the cause of Retinitis pigmentosa?

A
  • Mutation in gene coding for enzyme in visual pathway
  • RPE65 coding for an enzyme that converts all-trans-retinyl esters to 11-cis-retinol
77
Q

What is the name of the gene therapy used in retinitis pigmentosa (RP)?
What is the mechanism of action?

A
  1. Luxturna
  2. Use Adeno-associated viruses (AAV) to carry normal copy of target gene (RPE65) and inject AAV into retinal pigment epithelium
78
Q

Briefly describe the generation and production of recombinant adeno-associated viruses and what disorder it can be used in

A
  • AAV production cells with 3 plasmids
    1. AAV2 containing plasmid with gene of interest
    2. AAV2 plasmid carrying Rep-Cap
    3. Plasmid w/helper genes isolated from adenovirus
  • Used in TX of Retinitis pigmentosa
79
Q

List side effects of Luxtruna & describe why it can be reliably found on chromosome 19

A
  • SA: Floaters, eye pain, swelling, redness, increased intraocular P
  • It is an AAV which always insert on chromsome 19
80
Q

What type of gene therapy is ADSTILADRIN?
What conditions is it used for?

A
  • ADSTILADRIN is a type of in-vivo gene therapy, more specifically, adenovirus
  • Used in TX of superficial/non-muscle invasive bladder cancer
81
Q

Describe the mechanism of action for ADSTILADRIN

A
  • Adenovirus use to deliver interferon α-2b (IDN-α2b) to the bladder
  • This binds to interferon-α/β receptor that initiates JAK/STAT pathway resulting in triggering body’s own immune response to eliminate the tumor
82
Q

Why is adenovirus genetic therapy specifically used to treat non-invasive bladder cancer?

A
  • Do not want the gene widespread which makes adenovirus a good candidate since it is DNA virus that does not incorporate into genome
  • Must be injected into bladder every few months until cancer resolved
83
Q

What are two conditions that can be treated using ex vivo gene therapy?

A
  1. Beta thalassemia
  2. Follicular lymphoma
84
Q

What is the genetic therapy used for Beta thalassemia?
Why not perform regular blood transfusions?

A
  1. Tx: Zynteglo which is a Lentiviral Vector
  2. Repeated blood transfusions cause severe problems associated with iron overload
85
Q

What induces follicular lymphoma?

A
  • Cancer that originated from specific type of B-cell division upregulation
  • translocation of gene from chromosome 14 to 18 and the gene is now near an enhancer region to induce proliferation of B-cells
86
Q

List 4 types of stem cells

A
  1. Embryonic stem cells
  2. Induced pluripotent stem cells
  3. Mesenchymal stem cells
  4. Hematopoietic stem cells
87
Q

What are iPS cells aka iPSCs?
Is there risk associated with their use?

A
  • Induced pluripotent stem cells
  • Pluripotent stem cell that can be generated from adult cells
  • Risk: ectopic transcription of 4 genes used to make iPSCs can lead to neoplastic development from cells derived from iPSCs
88
Q

Umbilical cord tissue contain what type of stem cells?

A
  • Hematopoietic stem cells
  • Mesenchymal stem cells
89
Q

Other than umbilical cord tissue and blood, where else are mesenchymal stem cells found?

A
  • Developing tooth bud of the mandibular third molar
90
Q
  1. Hematopoietic stem cells are found in umbilical cord blood and:
  2. What conditions might these cells be used for?
A
  1. Can also be found in bone marrow
  2. Combind immunodeficiency (SCID) & Lysosomal storage disease
91
Q

Describe the pathway of Lentivirus

A
  1. Package virus in lab & deliver to stem cells
  2. Virus is endocytosed
  3. In cytoplasm, use reverse transcriptate to transcribe RNA to DNA
  4. Integration to many locations but only use stem cells that have integration in desired spot
92
Q

Gene therapy for beta thalassemia is Zynteglo and involves the use of:
______________ & _____________ to deliver what gene to desired cells?

A
  • Gene therapy for beta thalassemia is Zynteglo and involves the use of hematopoietic stem cells that are engineered ex vivo to use Lentivirus
  • This therapy delivers HBB gene to to stem cells that are then transplanted to patient
93
Q

What are some side effects of Zynteglo?
What disorder does this gene therapy aim to treat?

A
  1. SA: Low platelets, low WVBC, pain in arms or legs
  2. Use hematopoietic stem cells & lentivirus for longterm treatment of Beta thalassemia
94
Q

What genetic therapy options are available for follicular lymphoma? Give details

A
  • Axicabtagene ciloleucel which is a type of CART T-cell therapy
  • Ex vivo (γ-retrovirus or Lentivirus)
95
Q

Describe CAR T-cell therapy

A
  1. Use T cells 2. Ex vivo Tx using γ-retrovirus or LVV 3. Engineered T cells express anti-CD19 CARS that recognize and kill B cells
96
Q

What are adverse effects of gene therapy of Follicular lymphoma?

A
  • Fever, low WBC, Low RBC
97
Q

Describe the resistance between the aorta and L ventricle during ventricular ejection

A
  • At the beginning of systole there is very little resistance since flow is high and pressure difference is subtle to allow blood to flow through
  • Towards the end, resistance between the two begins to rise as the ventricular volume is lower and thus pressure is lower compared to systemic vascular resistance = Aorta pressure that is higher
98
Q

S2 marks the closure of semilunar valves, what phase of the ventricular cardiac cycle follows?

A

Isovolumetric relaxation where all valves are closed and the ventricles are relaxing. Pressure begins to drop while volume is already low

99
Q

S1 marks the closure of the AV valves, what phase of the ventricular cardiac cycle follows S1?

A

Isovolumetric contraction where all valves are closed but the ventricles are already beginning their contraction which is increasing pressure with no change in volume

100
Q

What is the equation to calculate ejection fraction?

A

Ejection Fraction = ( Stroke Volume / End Diastolic Volume ) * 100

101
Q

Renin release comes from where?
What does it do?

A
  • Initial part of the Renin-Angiotensin-Aldosterone System
  • Renin released by juxtaglomerular cells in kidneys
  • Renin converts Angiotensin to Angiotensin I
102
Q

How does ACE-I convert to ACE II?

A
  • In the lungs the enzyme angiotensin converting enzyme (ACE) converts Angiotensin I to Angiotensin II
103
Q

Describe the sound of mitral stenosis & where it is heard

A
  • Low pitched diastolic rumble
  • Heard at the apex of the heart
104
Q

What decreases mitral stenosis murmur sound?
What makes it worse?

A
  • Decreased intensity with maneuvers that decrease venous return
  • Worsened with expiration
105
Q
  1. Describe the sound of Mitral valve regurgitation
  2. Where is it heard?
A
  1. Holosystolic, high-pitched
    - Loudest at apex
    - Radiates to axilla
106
Q
  1. Describe Tricuspid valve regurgitation sound
  2. Where is it heard?
A
  1. Holosystolic, high pitched
  2. Loudest at left sternal border 4th ICS
107
Q
  1. What worsens mitral valve regurgitation?
  2. What worsens tricuspid valve regurgitation?
A
  1. Enhanced by squatting and hand grip
  2. Enhanced by inspiration
108
Q

Describe ventricular septal defect sound

A
  • Holosystolic, harsh-sounding murmur
109
Q

Describe Mitral Valve Prolapse Sound

A

Late systolic crescendo with mid-systolic click

110
Q

Describe how increased sympathetic firing is needed in acute hypovolemia specifically regarding inducing increased venous return & compliance

A

increased sympathetic tone of the vasculature causes vasoconstriction, which helps to raise blood pressure and increase venous return back to the heart
- this causes decreased venous compliance due to increased pressure
- recall compliance = ΔV / pressure

111
Q

Describe the flow of blood in the umbilical vein during fetal circulation

A
  • Blood travels away from the placenta to the fetus
  • The blood is oxygenated from the placenta at 80% O2
112
Q

Describe EKG characteristics of Atrial fibrillation

A
  • Irregularly irregular rhythm
  • Narrow QRS
  • No organized P waves
113
Q

List three outcomes of acute inflammation

A
  1. Complete resolution
  2. Scarring or fibrosis
  3. Progression to chronic inflammation
114
Q

What are stimulants of chronic inflammation?

A
  1. Internal Factors: hypersensitivity diseases & autoimmune diseases (presentation of self-antigents)
  2. External Factors: non-microbial toxins, microbial
115
Q

Describe autoimmune disorder

A

Immune system recognizes the normal component of the body as a foreign antigen

116
Q

What is polymorphism?

A

A variation in the DNA sequence that occurs in a population with a frequency of 1% or higher

117
Q

Differentiate a intrinsic genetic mistake from genetic mistake caused by environmental

A
  1. Intrinsic mutations result when the DNA polymerase makes a mistake
  2. Environmental: UV light, nuclear radiation & certain chemicals can alter DNA bases
118
Q

There are two types of mutation that change the identity of a base, describe them

A
  1. Transition: do not alter chemical nature of base, purine for purine or pyrimidine for pyrimidine
  2. Transversion: change chemical nature of base, purine for pyrimidine
119
Q

Two types of mutation, transition and transversion can arise from errors during DNA replication including tautomerization & oxidative deamination. Which contributes to which?

A
  1. Tautomerization & oxidative deamination generates transitions
  2. Oxidation of guanine generates transversion
120
Q

Define a silent mutation:
Where does it occur?

A
  • Occurs in the coding region or noncoding region
  • Occur when a base pair change in a coding region does not affect the amino acid that is encoded because of the wobble hypothesis.
  • The changed codon codes for the same amino acid
121
Q

Define missense mutation:
Where d

A
  • New codon causes insertion of incorrect amino acid into the protein
  • The protein function depends on the new amino acid
  • Can be okay or bad
122
Q

Define: nonsense mutation
Give an example:

A
  • The new codon causes the protein to prematurely terminate, the product is shortened or not function
  • A codon prematurely changed to a STOP codon
  • ex: UGG changed to UGA in β-thalassemia or GGA changed to UGA in cystic fibrosis
123
Q

Describe general repercussions of genetic mutation occurring in a regulatory proteins

A
  • Genetic mutation in genes that code for DNA repair enzymes can allow for increased mutation rate for the entire genome
  • Genetic mutation in genes coding for transcription factor can cause downstream effects
124
Q

Describe how genetic mutation in Pax-3 gene can cause Klein-Waardenburg syndrome

A
  • Pax 3 gene is a transcription factor
  • Genetic mutation in transcription factor can cause widespread downstream effects including congenital deafness & limb abnormalities
125
Q

What might happen if there are mutations in splice sites?

A
  • Genetic mutation in splice site can affect the accuracy of intron removal
  • could cause addition of nucleotides to intron
126
Q

What might the spliceosome do if there are mutations in splice sites?

A

Spliceosome may:
- Leave entire intron unspliced
- Add NT from intron in processed mRNA
- Delete NT from adjacent exon
- Delete an exon from the processed mRNA if next normal splice site is used

127
Q

List 3 disorders that are affected by genetic mutations involving splice sites

A
  • β Thalassemia: splicing defects in HBB gene coding for β globin
  • Gaucher’s disease: GBA gene
  • Tay-Sachs disease
128
Q

Define: frameshift mutation

A

Loss or gain of 1 to 2 NT resulting in misreading the affected codon and the ones that follow, leading to a different or non-functional protein

129
Q

Define: trinucleotide repeat expansion

A
  • Mutant alleles differ from normal counterparts only in the number of tandem copies of a trinucleotide
  • More tandem repeats compared to wild type allele
130
Q

Name 3 diseases induced by trinucleotide repeat expansion

A
  • Huntington disease
  • Fragile X syndrome
  • Myotonic dystrophy
131
Q

What causes Spinal-bulbar muscular atrophy?

A
  • This form of spinal atrophy is caused by androgen receptor on X chromosome
  • CAG trinucleotide repeat has up to 2 times as many repeats as compared to normal
132
Q

Huntington, Spinobulbar Muscular Atrophy, Fragile X syndrome and Myotonic dystrophy are all caused by:
What differentiates them?

A
  • All induced by trinucleotide repeat expansion
  • HD & SBMA repeats occur in coding region
  • Fragile X & Myotonic Dystrophy occur in untranslated region
133
Q

What does “g” or “c” mean in genetic mutation nomenclature?

A
  • “g” corresponds to mutation occurring in genomic DNA
  • “c” corresponds to mutation occurring in cDNA
134
Q

What is haploinsufficiency?

A
  • Caused by loss-of-function mutation in the heterozygous state in which half normal levels of the gene product result in the phenotypic effects since the remaining copy is unable to make enough product to exhibit normal gene expression
135
Q

Describe how loss of function mutation causes HDR syndrome

A
  • This type of loss of function mutation results in haploinsufficiency
  • There are mutations in GATA gene for which the second allele cannot produce enough of the gene’s product to maintain normal function
  • GATA3 is codes for a transcription factor
136
Q

List 5 characteristics/symptoms of the _____________________ __________________ HDR syndrome.
What causes this disorder?

A
  • HDR syndrome: Hypothyroidism, sensorineural deafness & renal disease caused by loss of function mutation
  • Sx: hypocalcemia, tetany, or afebrile convulsions, nephrotic syndrome, cystic kidney, renal dysplasia
137
Q

List the predominant characteristic/symptom of HTT syndrome.
This disorder is caused by ___________________ ___________________ __________________ & is considered a ___________________ _______________________ disorder .

A
  • Hereditary hemorrhagic telangiectasia caused by a loss of function mutation and is considered an autosomal dominant disorder
  • Mutation in ENG gene that codes for protein Endoglin
  • Characterized by vascular dysplasia that occur in mucosal linings of nose & GI
  • Arteriovenous malformations in lungs, liver, or brain
138
Q

Describe how ______ of function mutations contribute to Achondroplasia

A
  • Gain of function mutation
  • Caused by activating mutation in FGFR3
139
Q

Define hypermorph:

A
  • Hypermorph is related to gain of function mutations
  • Increased levels of gene expression
140
Q

Define neomorph:

A
  • Neomorph is related to gain of function mutations
  • Development of new function of the gene product
141
Q

Gliomas are caused by what specific type of Gain of function mutation in what gene?

A
  • Gliomas are caused by neomorph mutations in IDH1 gene
142
Q

What increases severity of gain of function mutations?
What inheritance pattern do they follow?

A
  • Worse if occurring in homozygous state
  • Dominantly inherited
143
Q

Nearly all cancers originate from:
Generally and broadly speaking, cancer arises through:

A
  • Nearly all cancers originate from a single cell
  • Cancer arises through a series of somatic alteration in DNA in which the alterations involve actual changes in DNA sequences
144
Q
A

M1 Block 3 (6 decks)

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