Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

MTM Exam 3 > Cell Biology - W2 Pathology > Flashcards

Cell Biology - W2 Pathology Flashcards

1
Q

What is the most common form of dwarfism and what is its patten of inheritance?

A
  • Achondroplasia

- Autosomal Dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Explain the mechanism of Achondroplasia.

A

In this disease, there is an FGFR3 (Fibroblast Growth Factor Receptor 3) mutation. This leads to an inhibited production of Collagen II (restricted chondrocyte proliferation) > inhibited long bone growth.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What does FGFR3 specifically do to bone growth?

A

It negatively regulates it by having constant activation of the receptor tyrosine kinases, which inhibits chondrocyte proliferation.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is the pattern of inheritance for Marfan’s Syndrome?

A

Autosomal Dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Explain the mechanism of Marfan’s syndrome.

A

Marfan’s syndrome has a defect in the Fibrillin gene (FBN1), which is necessary for the function of elastin. This leads to weak elastin tissue.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What are some common clinical presentations of Marfan syndrome?

A
  • Aortic/Mitral Regurgitation
  • Retinal detachment, Lens issues
  • Arachnodactyly (long limbs & fingers)
  • Pectus excavatum (funnel chest)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What is the most common cause of kidney failure in the world?

A

Diabetic Neuropathy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Explain the mechanism of Diabetic Nephropathy.

A

With diabetes mellitus, there are gylcosylated changes in the renal basement filter in the kidney (specifically the HSPG’s). HSPGs determine the sieving properties and also inhibit uncontrolled replication of cells attached to the BM.

  • Hyperglycemia > downregulation of HSPGs > collagen cross linking
  • GBM thickening (increased collagen and decreased HSPGs)
  • Expansion/hypertrophy of mesangial matrix
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Explain the mechanism of Pemphigus Vulgaris.

A

In this autoimmune disease (or genetic defect of desmosomal cadherins), there is an attack on the desmosomes. This leads to constant blistering and sores of the skin and mucous membranes.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

How does someone treat Pemphigus Vulgaris?

A

Steroid Therapy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is the pattern of inheritance for Charcot-Marie-Tooth Neuropathy (CMT Disease)?

A

X-Linked

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Explain the mechanism for CMT Disease?

A

In this disease, there is a mutation in Connexin 32, which leads to gap junction disfunction in the peripheral neurons.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is the most common inherited peripheral neuropathy in humans?

A

CMT Disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What are three important Connexin mutations?

A
  • Connexin 26: Deafness
  • Connexin 32: CMT Disease
  • Connexin 50: Blindness
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What are some common clinical presentations for CMT disease?

A
  • Progressive degeneration of peripheral nerves
  • Muscle weakness and atrophy
  • Impairment of deep tendon reflexes
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What are some important collagen disorders and what types of collagen are they correlated to?

A
  • Osteogenesis Imperfecta (Collagen I)
  • Ehlers-Danlos Syndrome (Collagen 1, 3, 5)
  • Alport Syndrome (Collagen 4)
  • Goodpasture Syndrome (Collagen 4)
  • Epidermolysis Bullosa (Collagen7)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Explain the mechanism of Osteogenesis Imperfecta.

A

In this disease, there is a defect in collagen I. This leads to a substitution of an invariant glycine that is more deleterious.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What are some common clinical presentations for Osteogenesis Imperfecta?

A

BITE

B = Bones have multiple fractures
I = Eyes have blue sclerae
T = Teeth have dental imperfections
E = Ears have hearing loss
19
Q

What type of Osteogenesis is lethal?

A

Type II

20
Q

What type of Osteogenesis is deforming?

A

Type III and mildly so in Type IV.

21
Q

What is the mildest form of Osteogeneis?

A

Type I

22
Q

What autoimmune blistering disease presents itself at 60 yrs old or greater? What does this autoimmune disease attack?

A
  • Bullous Pemphigoid

- Autoantibodies to Hemidesmosomal proteins

23
Q

What are some common clinical presentations for Ehlers-Danlos Syndrome?

A
  • Connective Tissue Weakness (hyperextensible skin, hypermobile joints)
  • Rupture of colon or large arteries
  • Varicose veins
24
Q

Explain the mechanism of Ehler-Danlos Syndrome.

A

In this disease, there is a defective fibrillar collagen synthesis or structure.

The most common mutation is collagen type 5 (then type 1), but there can also be type 3.

25
Q

This Ehlers-Danlos Syndrome is caused by a mutation in Collagen V and rarely I. What version of ED is this?

A

Type I and II

26
Q

This Ehlers-Danlos Syndrome is caused by a mutation in Collagen III - which leads to vascular complications. What version of ED is this?

A

Type IV (4)

27
Q

This Ehlers-Danlos Syndrome is caused by a mutation in lysyl hydroxylase (affecting collagen formation > ocular fragility). What version of ED is this?

A

Type VI (6)

28
Q

This Ehlers-Danlos Syndrome is caused by a

defect in converting procollagen I into collagen 1. What version of ED is this?

A

Type VII (7)

29
Q

Explain the mechanism of Alport Syndrome.

A

In this disease, there is a mutation in the alpha-5 chain of Type 4 Collagen. This leads to kidney failure.

30
Q

What are some common clinical presentations of Alport Syndrome?

A
  • Nephritis
  • Deafness
  • Hematuria (blood in urine)
31
Q

Explain the mechanism of Good Pasture Syndrome.

A

In this disease, there are autoantibodies attacking the Type 4 collagen (alpha 3 chain). This leads to destruction of the kidney, glomerulus, and lung alveoli basement membranes.

32
Q

Explain the mechanism for Dystrophic Epidermolysis Bullosa?

A

In this disease, there is a mutation in collagen VII ( 7 - anchoring collagen). This leads to poor anchoring of the fibrils (interfering with papillary dermis) > skin falls off.

33
Q

What is the pattern of inheritance for dystrophic epidermolysis bullosa?

A
  • Autosomal Recessive or Dominant Inheritance

- Recessive form is more severe

34
Q

Explain the mechanism for Epidermolysis Bullosa Simplex?

A

In this disease, there is a mutation in keratin 5 or 14, which affects the basal keratinocytes.

35
Q

Explain the mechanism for Junctional Epidermolysis Bullosa?

A

In this disease, there is a mutation in the laminin, integrins, or hemidesmosomal proteins. This interferes with the basement membrane.

36
Q

Explain the mechanism of Alzheimer’s Disease.

A

In this disease, the microtubule associated protein (tau) is hyperphosphorylated. This mutation leads to neurofibrillary tangles (intraneuronal) and a decrease in functional microtubules.

It also leads to an accumulation of beta-amyloid plaques (extracellular).

37
Q

What is the most common cause of dementia?

A

Alzheimer’s Disease

38
Q

What is the pattern of inheritance for Primary Ciliary Dyskinesia (PCD)?

A

Autosomal Recessive with variable penetrance

39
Q

Explain the mechanism of PCD.

A

In this disease, there are immobile cilia and sperm > retention of secretions and recurrent infections > infertility.

40
Q

50% of people with PCD have what other complication? Explain the syndrome.

A
  • Kartagener Syndrome
  • This leads to situs inversus, paranasal sinusitis, infertility, and bronchiectasis.
  • Situs inversus is due to decreased cell motility in embryogenesis. This leads to flipping of internal organs (note: sonic hedgehod + retinoic acid).
41
Q

Explain the mechanism of Epidermolytic Hyperkeratosis.

A

In this disease, there is a mutation in keratin 1 or 10, which is a suprabasilar differentiation of keratinocytes. This leads to red skin and blistering at birth (thickened scaly skin).

42
Q

Explain the mechanism of Epidermolytic Plantopalmar Keratoderma.

A

In this disease, there is a mutation in keratin 9 which is only expressed in the palms and soles.

43
Q

What is the pattern of inheritance for Epidermolytic Hyperkeratosis?

A

Autosomal Dominant

44
Q

In this disease, there is a filamin A gene mutation. The patient is mentally normal but suffers from epilepsy in the second decade of life.

A

Periventricular Heterotopia

MTM Exam 3 (6 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions