Diseases

Question 1

Cystic Fibrosis

Answer 1

• Degradation CFTR protein
• Conducts Cl- and SCN ions
• Phenylalanine gets mutated
• Mucous accumulates on Outside

Question 2

Congenital Glycosylation Syndrome

Answer 2

• Golgi Linked

- Lack of glycosylation leads to cerebral atrophy

Question 3

Von Gierke (Type I glycogen Storage Disease)

Answer 3

• Can’t break Glycogen

- Enlarged Liver

Question 4

Albinism

Answer 4

• Lack of tyosinase

- Prevented Melanosome production

Question 5

Nemaline Rod Myopathy

Answer 5

• Neuromuscular weakness

- ACTA1 mutation, which makes actin

Question 6

Ehlers Danlos

Answer 6

• Improper Collagen formation

- Hyperextension of digits

Question 7

Osteogenesis Imperfecta

Answer 7

• Gly-Ala
• Lower Collagen Melt Point
• Brittle Bones

Question 8

Scurvy

Answer 8

• Vit C deficiency
• Vit C is cofactor for prolyl hydroxylase
• Hair loss, teeth loss, bleeding gums, broken nails

Question 9

Osteolathyrism

Answer 9

• Toxified Lysyl Oxidase
• Collagen Cross-linking deficiency
• Bone and Mesenchyme damage

Question 10

HIV

Answer 10

-CD4 Helper T-cells targeted