Chapter 9. Nucleic Acid and Protein Metabolism Disorders
12 topics with brief reviews: definitions, key facts, and seminar questions.
Proteins and nucleic acids are the molecular foundation of life, so any disruptions in their metabolism affect all body systems. In this chapter, we systematically analyze the cascade of typical disorders of protein metabolism: from digestion and absorption problems to cellular amino acid imbalance and transport defects.
Special attention is paid to complex systemic pathologies. You will study the mechanisms of dysproteinemias and amyloidosis, as well as the pathophysiology of nucleic acid metabolism, centered on gout, hyper- and hypouricemia.
In seminars and exams, instructors most often demand a deep understanding of the pathogenesis of gout (the role of uric acid and inflammation mechanisms), the stages of amyloid formation, and the clinical consequences of shifts in blood protein fractions. Mastering these topics is your key to understanding storage diseases and severe metabolic syndromes.
What is the difference between complete and absolute starvation?
In absolute starvation, both food and water intake cease completely. In complete starvation, a person does not eat, but continues to drink water.
Why do generalized edema occur in kwashiorkor?
They are a consequence of blood hypo-oncia. Due to dietary protein deficiency, albumin levels drop, oncotic pressure falls, and fluid leaks into the tissues.
Why does a negative nitrogen balance occur with dietary protein deficiency?
The body begins to intensely break down its own (endogenous) tissue proteins to compensate for the amino acid shortage required for vital processes. As a result, nitrogen excretion exceeds its intake.
Why does the $\alpha$-gliadin peptide trigger an immune response in celiac disease?
This peptide is resistant to hydrolysis by enzymes of the stomach, pancreas, and small intestine. As a result, it remains unchanged, penetrates tissues, and is recognized by the immune system as a foreign antigen.
What are the main stages of amino acid transport that are blocked in membranopathies?
Transport is blocked from the intestine to the blood, from the blood to hepatocytes, reabsorption from the primary urine into the blood, and the transition from the blood into tissue cells.
Which enzyme is impaired in phenylketonuria?
Phenylketonuria features a mutation in the gene encoding phenylalanine-4-hydroxylase, which blocks the conversion of phenylalanine to tyrosine.
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