PROTEIN CHEMISTRY ASSIGNMENT

Students are required to complete this assignments and upload on LMS

Submission Deadline: 15th March

An eight year- old child has been brought to the pediatrician by her parents after a fall. History revealed
that she had diminished hearing in both ears. Detailed history further revealed that she had been
brought once before by a social worker because of suspected child abuse and had been treated for
multiple fractures. Physical examination after taking informed consent revealed blue sclerae, thinning
along with impaired elasticity of skin and confirmed the diminished hearing. Radiographs of the child’s
right upper limb indicated bone remodeling and repair of recent fractures. These features were
concerning for the physician so he took a skin biopsy, and an abnormality was detected in the inter and
intra chains of collagen fiber, which led to the diagnosis of ‘Osteogenesis Imperfecta’.

1.Relate blue sclera and impaired elasticity of skin with Osteogenesis Imperfecta.

2. Explain the abnormality of collagen in Osteogenesis imperfecta

3. Discuss the structure and function of collagen

Case 2:

A 65 year-old woman is brought to the psychiatrist with complaints of repetitiveness, memory loss, and
executive function loss progressively for three years. Progressive cognitive decline was evident by
decline in daily activities for one year. She was progressively being slower in processing and carrying out
instructions. She usually forget to turn off stove, and cant able to turn off lights. Her past medical
history was relevant for hypercholesterolemia and vitamin D deficiency.There was no history of
smoking, alcohol, or other drug misuse. There was no first-degree family history of dementia.
Neurological examination shows normal muscle tone and power, mild ideomotor apraxia on performing
commands for motor tasks with no suggestion of cerebellar dysfunction, normal gait, no frontal release
signs. She is fluent in speech with word finding difficulties but with no phonemic or semantic paraphrasic
errors. MRI revealed mild generalized cortical atrophy.

1.What is the most likely disorder?

2. Discuss the role of chaperones in protein folding

3. Why there is progressive cognitive decline in this case

4. Discuss the above case with particular reference to mechanism of protein misfolding.
SEQS:

1.a) Describe the role of prion proteins in health and disease.

b) Differentiate between the secondary structures of protein. What are super secondary motifs?

c) Discuss the role of chaperones in protein folding.

2. An eight-month-old girl presents with exhaustion and excessive starvation secondary to

deficient intake of calories and protein.

a) Which amino acids will be deficient in her diet? Justify

b) Enumerate amino acids involved in the synthesis of ketone bodies.

c) Discuss the role of amino acids as buffer.

d) Classify amino acids on the basis of polarity.

3. Mr. XYZ has been tested positive for SARS-CoV-2.

a) Which immunoglobulins will be raised as a) first line of defense, b) long term immunity?

b) Draw normal electrophoretic pattern of various serum proteins. What happens to this pattern in
multiple myeloma?

c) Give an account of acute phase proteins in plasma.

d) Why low plasma haptoglobin levels are seen in hemolytic anemia?

4. A 60 year-old male, diagnosed case of liver cirrhosis was brought to emergency room. On
examination pedal edema was observed. On investigation his serum protein levels are found to be
decreased.

a) Which plasma protein levels are affected?

b) What will be the probable causes of edema in this patient?

c) Illustrate the functions of the plasma protein involved?

5. A 7 year-old boy was brought to hospital with complaints of severe cough and high grade fever
since one night. On examination subcostal and intercostal recessions were present. Mother gave history
of contact with cows and goats on occasion of eid two days back. Child was diagnosed with acute allergy
attack.

a. Which immunoglobulin is involved in this case?

b. Enlist the immunoglobulins raised in initial immune response and long-term sensitivity to
recurrent exposures.

c. Describe the biochemical effects of each type of immunoglobulin?

6. How proteins are structurally arranged with specific reference to bonds involved in each type