6.1-DISORDERS RESULTING FROM DEFECTS IN COLLAGEN SYNTHESIS

Question 1

DISORDERS RESULTING FROM DEFECTS IN COLLAGEN SYNTHESIS

Answer 1

OSTEOGENESIS IMPERFECTA
PROGRESSIVE SYSTEMIC SCLEROSIS
KELOID
SCURVY
EHLERS-DANLOS TYPES IV, VI, VII,

Question 2

resulting from mutations in the alpha1 (I) or alpha2 (I) genes (genes that encodes for procollagens)
- most are due to deletions of all or part of the 1 (I) gene

Answer 2

OSTEOGENESIS IMPERFECTA

Question 3

OSTEOGENESIS IMPERFECTA resulting from mutations in the _____________ genes (genes that encodes for procollagens)

Answer 3

Alpha1 (I) or alpha2 (I)

Question 4

The most common type of osteogenesis imperfecta are due to the deletion of what gene

Answer 4

all or part of the 1 (I) gene

Question 5

presents an excessive accumulation of collagen (fibrosis) on almost all organs
- causes hardening and functional impairment of the implicated organs

Answer 5

PROGRESSIVE SYSTEMIC SCLEROSIS

Question 6

local swelling caused by abnormal amounts of collagen that form in scars of the skin
- occur most often in individuals of black African descent

Answer 6

Keloid

Question 7

Vitamin C deficiency leads to_____

Answer 7

scurvy

Question 8

• characterized by the degeneration of connective tissue

Answer 8

scurvy

Question 9

• fibroblasts synthesize defective collagen, and the defective fibers are not replaced, this causes?

Answer 9

scurvy

Question 10

how does lack of vitamin C result to scurvy?

Answer 10

vitamin C is a cofactor of proline hydroxylase that are essential in normal synthesis of collagen

Question 11

Symptoms of Ehlers-Danlos type IV

Answer 11

Aortic and/or intestinal rupture

Question 12

Defects of Ehlers-Danlos type IV

Answer 12

faulty transcription or translation of collagen type III

Question 13

faulty transcription or translation of collagen type III

Answer 13

Defects of Ehlers-Danlos type IV

Question 14

Aortic and/or intestinal rupture may signify that the person has?

Answer 14

Defects of Ehlers-Danlos type IV

Question 15

Ehlers-Danlos type VI defect

Answer 15

faulty lysine hydroxylation

Question 16

Ehlers-Danlos type VI symptoms

Answer 16

Augmented skin elasticity, rupture of eyeball

Question 17

faulty lysine hydroxylation

Answer 17

Ehlers-Danlos type VI defect

Question 18

Augmented skin elasticity, rupture of eyeball may signify that the person has?

Answer 18

Ehlers-Danlos type VI symptoms

Question 19

Ehlers-Danlos type VII defects

Answer 19

decrease in procollagen peptidase activity

Question 20

Ehlers-Danlos type VII symptoms

Answer 20

Increased articular mobility, frequent luxation

Question 21

decrease in procollagen peptidase activity

Answer 21

Ehlers-Danlos type VII defects

Question 22

Increased articular mobility, frequent luxation may signify that the person has

Answer 22

Ehlers-Danlos type VII

Question 23

Symptoms of scurvy

Answer 23

ulceration of gums, hemorrhages

Question 24

Osteogenesis imperfecta defect

Answer 24

change of one nucleotide in genes for collagen type I

Question 25

Osteogenesis imperfecta symptoms

Answer 25

Spontaneous fractures, cardiac insufficiency

Question 26

Spontaneous fractures, cardiac insufficiency can signify that the person has

Answer 26

Osteogenesis imperfecta

Question 27

change of one nucleotide in genes for collagen type I

Answer 27

Osteogenesis imperfecta