Exploring Disease: Concepts and Classifications

Mar 6, 2025

Lecture Notes: Understanding Disease

Overview

  • Exploration of the concepts of patient and disease.
  • Disease classifications based on evolutionary and mechanistic causation.
  • Disease is not merely infectious, chronic, or degenerative but has nuanced structures.
  • Seven categories of disease help analyze defenses, maintenance, and vulnerability.

Key Concepts

Disease Risk

  • Risk varies with genotype and environment.
  • Graph structure:
    • X-axis: Genotypes
    • Y-axis: Disease risk (low to high)
  • Environment D: Higher risk for most genotypes.
  • Environment A: Risk for select genotypes above a certain threshold.

Categories of Disease

  1. Genetic Causes

    • Diseases caused by single-gene mutations.
    • Examples: Trisomy 21, Cystic Fibrosis.
    • Often lethal/prevent reproduction; prevalence rising due to medical advancements.
  2. Environmental Causes

    • Contribute to extrinsic mortality leading to natural selection.
    • Include infections, malnutrition, dehydration, etc.
    • Technology reduces prevalence, influences Category 3 diseases.
  3. Byproducts of Defense Systems

    • Result from cost, deficiency, or misfunction of defense systems.
    • Increased prevalence as environmental diseases decline.
    • Include autoimmune diseases, anxiety disorders.
  4. Diseases of Homeostasis

    • Affect systems designed to be adjustable.
    • Includes obesity, diabetes, addiction.
    • Result from environmental mismatches.
  5. Diseases of Maintenance

    • Occur due to lack of Maintenance, especially with aging.
    • Affect brain structures, processes, and are not curable naturally.
    • Examples: Alzheimer's, arthritis.
  6. Stochastic Developmental Problems

    • Rare, costly for evolution to fix.
    • Include premature delivery, SIDS.
    • Often filtered by quality control mechanisms.
  7. Diseases of Pregnancy & Early Development

    • Result from equilibrium disruptions in relative conflicts.
    • Include preeclampsia, gestational diabetes.
    • May be linked to mental disorders.

Perspectives on Disease

  • Patient's View: State of not feeling well.
  • Physician's View: Abnormal conditions that produce symptoms.
  • Pathogen's View: Symptoms aid in reproduction/transmission.
  • Host's View: Byproducts of past selection or current defense mechanisms.

Disease Explanation

  • Requires both mechanistic and evolutionary perspectives.
  • Example: Crohn's disease explained through genetics and evolutionary mismatch.

Genetic and Environmental Causes

  • Genetic causes: Defects (e.g., cystic fibrosis) and predispositions.
  • Environmental causes: Catastrophic (e.g., infections) and accumulative (e.g., smoking).

Gene-Environment Interactions

  • Diseases often result from gene-environment interactions.
  • Smoking and barbecued meat as examples of environmental factors interacting with genetic predispositions in cancer.
  • Importance of understanding interactions for disease risk assessment.

Summary

  • Diseases categorized into seven evolutionary and mechanistic types.
  • Genetic and environmental causes have distinct pathways.
  • Many diseases result from gene-environment interactions.
  • Depending on causation, organisms evolve defenses and maintenance mechanisms, though not always effectively.