Disorders Of Connective Tissue

Question 1

What can cause Ehlers Danlos?

Answer 1

Deficiency in Lysyl oxidase

Mutation in collagen α chain AA sequence (most commonly type V)

Question 2

What condition is characterised by stretchy skin?

Answer 2

Ehlers Danlos

Question 3

What condition could this be-
Blue sclerae
Multiple bone fractures
Hearing loss 
Short, bent back

Answer 3

Osteogenesis imperfecta

Question 4

Another name for osteogenesis imperfecta??

Answer 4

Brittle bone disease

Question 5

What causes osteogenesis imperfecta?

Answer 5

Most often autosomal dominant
Gene mutation for type 1 collagen
lots of causes- Most often- Gly-X-Y amino acids replaced with others that have bulky side chains and so can’t form triple helix as well

Question 6

A deficiency in……leads to scurvy

Answer 6

Vitamin C

Question 7

What is the role of vitamin C in collagen synthesis?

Answer 7

Co factor for Lysyl and Prolyl hydroxylase enzymes

Question 8

How does deficiency in something lead to Scurvy?

Answer 8

Vitamin C
Co factor for hydroxylase enzymes TF without less hydroxylation happens
TF less OH- groups formed
TF les H bonds, TF weaker structure

Question 9

What symptoms may be present in scurvy? How do they come about?

Answer 9

Easy bruising

As collagen fibres are weaker, blood vessel walls like capillaries are weaker and so can ‘leak’ out blood very easily

Question 10

What would someone with Ehlers Danlos present with?

Answer 10

Stretchy skin
Easy bruising
Heart valve problems
Loose joints