In vitamin C deficiency, post-translational modification of which amino acid is defective
**Core Concept:** Vitamin C (ascorbic acid) is an essential micronutrient required for various physiological processes, primarily as a cofactor in the synthesis of collagen and as a powerful antioxidant. Deficiency of vitamin C leads to scurvy, a disease characterized by impaired wound healing, gum swelling, and joint pain. Post-translational modifications refer to chemical changes in proteins after they are synthesized, such as phosphorylation or glycosylation.
**Why the Correct Answer is Right:** In scurvy, the post-translational modification of the amino acid lysine is defective. Specifically, the enzyme lysyl oxidase, which catalyzes the formation of covalent cross-links between collagen molecules, is impaired due to lack of vitamin C. This results in weak and unstable collagen fibers, leading to the clinical manifestations of scurvy.
**Why Each Wrong Option is Incorrect:**
A. Tyrosine hydroxylase: This enzyme is involved in the synthesis of dopamine, not related to scurvy pathogenesis.
B. Glutamine synthetase: This enzyme is involved in the synthesis of glutamine, unrelated to scurvy.
C. Proline hydroxylase: This enzyme is involved in proline hydroxylation, not related to scurvy pathogenesis.
D. Collagen biosynthesis: Although scurvy affects collagen synthesis, the correct answer focuses on the post-translational modification of lysine, not the entire collagen biosynthesis process.
**Why Lysine is Relevant to Scurvy:** Lysine is an essential amino acid that plays a crucial role in the formation of cross-links between collagen molecules. These cross-links are crucial for maintaining the stability and strength of collagen fibers. In scurvy, the absence of vitamin C leads to the impairment of lysyl oxidase, the enzyme responsible for catalyzing the formation of these cross-links. As a result, collagen fibers become weak and unstable, leading to the clinical manifestations of scurvy.
**Clinical Pearl:** The deficiency of vitamin C can also affect the immune system, impairing neutrophil function and increasing susceptibility to infections. Patients with scurvy might present with a "damp cough," which is a colloquial term for the productive cough seen in patients with severe infections.
**Correct Answer:** D. Lysine (Lys) is the correct answer because lysine is essential for the formation of cross-links between collagen molecules that stabilize collagen fibers. The absence of vitamin C, as in scurvy, leads to the impairment of lysyl oxidase, the enzyme responsible for catalyzing this cross-link formation.