3 cellular Collagen Collagen synthesis and structure Osteogenesis imperfecta Ehlers-Danlos Menkes Disease Elastin Flashcards

1
Q

What is the most abundant protein in the human body and what is its function?

A

Collagen; it strengthens and organizes the extracellular matrix

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2
Q

What type of collagen is found in the basement membrane, basal lamina, and lens?

A

Type IV (under the floor [IV])

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3
Q

What type of collagen is found in the vitreous body, nucleus pulposus, hyaline cartilage, and articular surface of joints?

A

Type II (cartwolage [cartilage])

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4
Q

What is another name for type III collagen? In what structures can type III collagen be found?

A

Reticulin; found in skin, blood vessels, uterus, granulation tissue, and fetal tissue

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5
Q

What is the most common type of collagen? In what structures can this type of collagen be found?

A

Type I collagen (90%); found in bone, skin, dentin, tendon, fascia, and cornea; also involved in late wound repair

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6
Q

A baby is born with multiple fractures, loose joints, and blue sclerae. What type of collagen is defective?

A

Insufficient production of type I collagen (disease is osteogenesis imperfecta type I)

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7
Q

A 13-year-old boy presents with hearing loss, hematuria, and end-stage kidney disease. What type of collagen is most likely defective?

A

Type IV—disease is Alport syndrome

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8
Q

A patient has autoantibodies attacking his glomerular basement membranes. What type of collagen is most likely being targeted?

A

Type IV collagen—disease is Goodpasture syndrome

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9
Q

Which type of collagen is deficient in the vascular type of Ehlers-Danlos syndrome?

A

Type III collagen (type III, which is deficient in the uncommon vascular type of Ehlers-Danlos syndrome [ThreE D])

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10
Q

A man takes a drug that interferes with posttranslational modification. Will this affect his bone, skin, and tendon production?

A

Yes, because collagen (including type I, which is found in bone, skin, and tendon) undergoes extensive posttranslational modification

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11
Q

What form of collagen is exocytosed from the cell into the extracellular space?

A

Procollagen

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12
Q

What form of collagen is exocytosed from the cell into the extracellular space?

A

Procollagen

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13
Q

The conversion of preprocollagen to procollagen requires what process?

A

Glycosylation

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14
Q

A single-collagen α chain during collagen synthesis is referred to as what?

A

Preprocollagen

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15
Q

Many staggered tropocollagen molecules with covalent lysine-hydroxylysine cross-links are referred to as ____.

A

Collagen fibrils

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16
Q

Where does collagen synthesis mainly occur in the cell?

A

In the rough endoplasmic reticulum

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17
Q

Is tropocollagen formed inside or outside fibroblasts?

A

Outside

18
Q

British sailors present with an inability to hydroxylate proline and lysine residues. Why do you prescribe them limes?

A

They have scurvy, and limes supply the vitamin C that they need (and earn them the nickname “limeys”)

19
Q

Which vitamin is required for the hydroxylation of proline and lysine residues in collagen?

A

Vitamin C

20
Q

A triple helix that is composed of three collagen α chains with the terminal disulfide-rich regions cleaved off is referred to as what?

A

Tropocollagen

21
Q

Which enzyme covalently cross-links lysine residues to hydroxylysine residues to make collagen fibrils? Which disease does a defect cause?

A

Lysyl oxidase (containing copper); Menkes disease

22
Q

• _____ (Proline/Glycine/Lysine) content best reflects collagen synthesis.

A

Glycine, as collagen is one third glycine

23
Q

A man presents with easy bruising and ecchymoses. You find that he has defective cross-linking of tropocollagen. What disease does he have?

A

Ehlers-Danlos syndrome

24
Q

What type of inheritance does the most common variant of osteogenesis imperfecta show?

A

Autosomal dominant

25
Q

Of what process is osteogenesis imperfecta a defect?

A

Production of type I collagen—production of otherwise normal type I collagen is insufficient

26
Q

The dental imperfections seen in osteogenesis imperfecta are due to lack of ____ in the teeth.

A

Dentin

27
Q

A young woman with blue sclerae also has hearing loss. What is the pathophysiology of her hearing loss?

A

Abnormal ossicles (this is osteogenesis imperfecta)

28
Q

Like polycystic kidney disease, Ehlers-Danlos syndrome is associated with what defects of the brain vasculature?

A

Berry aneurysms (also associated with aortic aneurysms)

29
Q

Ehlers-Danlos syndrome is transmitted through what inheritance pattern(s)?

A

Can be either autosomal dominant or recessive

30
Q

A patient presents with hyperextensible skin, easy bruising, and hypermobile joints. What is the most likely mutation?

A

A mutation in type V collagen, resulting in Ehlers-Danlos syndrome, classical type (joint and skin symptoms)

31
Q

Autopsy of a 50 year old with recurrent joint dislocations reveals death from splenic rupture. What is the mechanism of action of his death?

A

Poor type III collagen synthesis resulting in weak connective tissue is the vascular type Ehlers-Danlos syndrome

32
Q

A patient presents with brittle, “kinky” hair, growth retardation, and hypotonia. What gene mutation is responsible?

A

This is Menkes disease, caused by a defect in Menkes protein (ATP7A)

33
Q

Impaired copper absorption and transport could result in which connective tissue disease?

A

Menkes disease

34
Q

Why is copper a critical factor in the development of Menkes disease?

A

Copper is a required cofactor for lysyl oxidase, an enzyme that makes collagen fibrils from tropocollagen

35
Q

What enzyme is inhibited by α1-antitrypsin?

A

α1-antitrypsin inhibits elastase, which degrades elastin

36
Q

A man presents with long, slender limbs as well as long fingers and toes. You found that he has defective fibrillin. What is your diagnosis?

A

Marfan syndrome

37
Q

What is the function of fibrillin?

A

It acts as a scaffold for tropoelastin

38
Q

A man with no smoking history presents with emphysema. He was also found to have excess elastase activity. What deficiency might he have?

A

α1-antitrypsin deficiency

39
Q

Name six locations in the body where elastin may be found.

A

Lungs, large arteries, elastic ligaments, vocal cords, ligamenta flava (connect vertebrae with relaxed and stretched conformations), skin

40
Q

A patient is distraught about her aging and wants to know why her skin is becoming more wrinkled. What is a good explanation to give her?

A

As she ages, she has decreased collagen and elastin production, which leads to wrinkle formation