Collagen Synthesis

Question 1

Collagen Synthesis steps ?

Answer 1

Synthesis - translation of Alpha chain of Collagen (PREPROCOLLAGEN)

Cleavage of SIGNAL SEQ - PROCOLLAGEN
HYDROXYLATION of proline and lysine - (in RER requires VITAMIN -C)

GLYCOSILATION - add of sugar group to protien (OI)

EXOCYTOSIS - procollagen exits to extracellular space

PROTEOLYTIC PROCESS - cleave of di sulphide region and formation of tropocollagen

Assembly and Cross linking- lysine- hydroxulisine cross linking

Question 2

What are the three types of Collagen involved in Ehlers danlos syndrome ?

Answer 2

TYPE 1,3,5

Question 3

Disease causing

TYPE1&4 COLLAGEN MUTATION
HYPEREXTENSIBLE SKIN

Answer 3

TYPE 1 EHLERS DANLOS

Question 4

DISEASE CAUSING

CONNECTIVE TISSUE WEAKNESS
COLLAGEN 3 MUTATION
AFFECTS VASCULAR

Answer 4

TYPE 4 EHLERS DANLOS

Question 5

DISEASE CAUSING

MUTATION IN LYSYL HYDROXYLASS

Answer 5

TYPE 6 EHLERS DANLOS

Question 6

Disease causing defect in conversion of procollagen 1 to collagen 1?

Answer 6

Type 7 ehlres danlos

Question 7

Worst type of Osteogenesis Imperfecta ?

Answer 7

TYPE 2

Question 8

OI which causes no changes in sclera ?

Answer 8

Oy type 4 OI

Question 9

Disease causing

X-LINKED
NEPHRITIS
KINDNEY FAILURE
DEAFNESS

Answer 9

ALPORT SYNDROME
TYPE 4 COLLAGEN (BASAL LAMINA)

Question 10

Disease which causes

AUTOIMMUNE
TEEN ONSET (MALES)
HEMOPTYSIS
PROGRESSIVE RENAL FAILURE

Answer 10

GOOD PASTURE
TYPE 4