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Biochemistry Assignment 1 Week 4
instructions
You must give detailed and well-explained
answers to the case study questions. There are no length restrictions as long
as the responses are thoughtfully constructed. It is your responsibility to
give clear, easy to understand and precise explanations without ambiguity – you
must be very convincing with your answers!
Assignment 1: Module/Week 4
You should read chapter 3 (Osteogenesis Imperfecta) from
your Clinical Studies in Medical Biochemistry textbook (by Rosenthal and Glew) then answer the following questions;
- Why is a bluish discoloration of the
sclera a common finding in type I OI ? - Examination
of type I collagen from a patient with type IV OI revealed normal electrophoretic
mobility but altered thermal stability. Which region of the molecule is likely
to contain the mutation ? - Why
do mutations in C-propeptides cause significant posttranslational overmodification
of type I collagen ? - Why
does a reduction of collagen thermal stability by 6°C prevent incorporation of
the corresponding mutant molecules into bone matrix ? - A teenager with a history of
fractures but no skeletal deformities and no acute dis- tress was diagnosed
with moderate type IV OI. After learning that radiographic analysis revealed
low bone mineral density in their child, the parents inquired about a
possibility of bisphosphonate therapy. How would you respond to their inquiry ?
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