General Principles and Energy Production in Medical Physiology

  • Based on Ganong’s Review of Medical Physiology (26th ed.), Chapter 1.

  • Core idea: life requires continuous energy transfer; ATP is the primary energy currency in the body.

  • Energy production pathways provide energy for muscle contraction, active transport, and biosynthetic reactions; energy losses and inefficiencies exist.

  • ATP hydrolysis and energy release:

    • ATP → ADP releases usable energy for cellular work (muscle contraction, active transport, synthesis).

    • Further hydrolysis of ADP → AMP releases additional energy (lower-energy phosphate bond sequences sustain ongoing work).

  • Oxidation and reduction (redox):

    • Oxidation: loss of hydrogen or electrons; addition of oxygen or loss of hydrogen; gains or losses of electrons drive energy capture.

    • Reduction: gain of electrons or hydrogen; often coupled to oxidation steps elsewhere.

  • Catalysis of biological oxidations:

    • Enzymes accelerate oxidation/reduction reactions.

    • Cofactors (ions) or coenzymes (organic molecules, e.g., NAD⁺, NADP⁺) act as carriers to shuttle electrons or groups.

    • Coenzymes can catalyze multiple reactions; they are not consumed in the overall reaction.

  • Oxidative phosphorylation (mitochondrial ATP production):

    • Protons pumped across the mitochondrial membrane create a proton gradient.

    • The gradient drives ATP synthase to form ATP from ADP + Pi.

    • About 90% of basal O₂ consumption occurs in mitochondria; ~80% of that O₂ consumption is coupled to ATP synthesis.

  • ATP utilization in the resting cell (percent of total cellular ATP consumption):

    • Protein synthesis: ~27%

    • Na⁺/K⁺ ATPase (membrane potential maintenance): ~24%

    • Gluconeogenesis: ~9%

    • Ca²⁺ ATPase (cytosolic Ca²⁺ homeostasis): ~6%

    • Myosin ATPase (muscle contraction): ~5%

    • Ureagenesis: ~3%

  • Energy carriers and cellular compartments:

    • ATP is produced primarily in mitochondria via oxidative phosphorylation; glycolysis in the cytosol provides some ATP and reducing equivalents.

    • Most ATP generated from carbon fuels is ultimately derived from oxidation of substrates in mitochondria.

  • Mitochondria: structure and genetics

    • Mitochondria are numerous per cell; inner membrane contains cristae where oxidative phosphorylation occurs; matrix houses enzymes of the citric acid cycle.

    • Mitochondrial genome: double-stranded circular DNA (~16,500 bp).

    • ~99% of mitochondrial proteins are encoded by nuclear DNA and imported.

    • Mitochondria are inherited maternally; high mutation rate relative to nuclear DNA; mutations linked to mitochondrial diseases, especially in high-energy-demand tissues.

  • Summary: energy production is a integrated process involving substrate oxidation, electron transport, proton motive force, and ATP synthesis; tight coupling to cellular energy demands and biosynthetic needs.

Body Fluid Compartments and Distribution

  • Body composition (average young adult male): ~18% protein, ~7% minerals, ~15% fat, ~60% water.

  • Body water is distributed between two main compartments:

    • Intracellular fluid (ICF): inside cells; ~2/3 of total body water (~40% of body weight).

    • Extracellular fluid (ECF): outside cells; ~1/3 of total body water (~20% of body weight); includes plasma and interstitial fluid.

  • Extracellular Fluid (ECF) components:

    • Plasma (blood) fluid ~5% body weight.

    • Interstitial fluid ~15% body weight.

  • Interstitial fluid and fluid movement:

    • Cells reside in an interstitial fluid environment; nutrients and oxygen diffuse from capillaries into interstitial fluid and then into cells; wastes move back into interstitial fluid and blood.

    • Fluid movement is tightly regulated; edema = abnormal buildup of interstitial fluid.

  • Diagrammatic breakdown (relative proportions):

    • Plasma: 5% body weight

    • Extracellular fluid: 20% body weight

    • Interstitial fluid: 15% body weight (of body weight, within ECF)

    • Intracellular fluid: 40% body weight

pH, Buffers, and Acid-Base Physiology

  • pH definition:

    • pH = −log₁₀[H⁺]

    • Pure water at 25 °C has pH 7.0; [H⁺] = 10⁻⁷ M.

    • Each unit change in pH represents a 10× change in [H⁺].

  • Physiologic pH ranges:

    • Normal plasma: pH 7.35–7.45 (slightly alkaline).

    • Gastric fluid: ~pH 3.0 (acidic).

    • Pancreatic secretions: ~pH 8.0 (alkaline).

  • Importance of pH:

    • pH affects enzyme activity and protein structure; small pH changes can significantly affect biochemical equilibria.

  • Acids, bases, and buffers:

    • Acids donate H⁺; bases accept H⁺.

    • Strong acids/bases fully dissociate; most physiologic acids/bases are weak and partially dissociate.

    • Buffers bind or release H⁺ to maintain pH when acids/bases are added.

    • Isohydric principle: in a mixed buffer solution, all buffers share the same [H⁺]; measuring one buffer reveals others.

  • Henderson–Hasselbalch equation:

    • ext{pH} = ext{p}K_a + \log\left(\frac{[A^-]}{[HA]}\right)

    • Buffering is most effective when pH ≈ pKₐ; when [A⁻]/[HA] is balanced, buffering capacity is maximal.

  • Carbonic acid–bicarbonate buffer system:

    • CO₂ + H₂O ⇌ H₂CO₃ ⇌ H⁺ + HCO₃⁻

    • This buffer resists pH changes and is tightly linked to respiratory CO₂ removal.

    • Lungs regulate CO₂, aiding pH homeostasis.

  • Other buffers:

    • Phosphate buffer system

    • Protein buffers (hemoglobin, plasma proteins, etc.)

  • Practical implications:

    • Acid-base disturbances are managed by buffering, respiratory regulation, and renal excretion of acids/bases.

Diffusion, Osmosis, and Osmolality/Osmolarity

  • Diffusion:

    • Random movement of particles from high to low concentration; net flux follows a concentration gradient.

    • Time to equilibrium scales with distance squared, t ∝ (distance)².

    • Factors affecting diffusion rate (Fick’s Law): surface area, concentration gradient, and membrane thickness (boundary thickness).

  • Osmosis:

    • Movement of water across a selectively permeable membrane from low solute concentration to high solute concentration.

    • Membrane must be permeable to water but impermeable to solute.

  • Osmotic pressure:

    • Pressure required to stop water movement into the more concentrated solution; a colligative property depending on solute particle number, not identity.

  • Osmoles and osmolality/osmolarity:

    • Osmole (Osm) = gram molecular weight ÷ number of freely moving particles per molecule in solution.

    • Milliosmoles (mOsm) common in physiology.

    • Osmolarity: Osmoles per liter of solution; osmolality: Osmoles per kilogram of solvent (temperature dependent for osmolarity).

    • In body fluids, osmolality approximates osmoles per liter of water due to nearly unit density.

  • Osmolality and tonicity (concentration relative to plasma):

    • Isotonic: same osmolality as plasma; no net water movement.

    • Hypertonic: higher osmolality; water moves out of cells causing shrinkage.

    • Hypotonic: lower osmolality; water moves into cells causing swelling.

  • Plasma osmolality contributors (approximate):

    • Na⁺ and accompanying anions ~270 mOsm/L

    • Other cations/anions: small contributions

    • Plasma proteins: < 2 mOsm/L (high molecular weight)

    • Glucose and urea: ~5 mOsm/L each (can rise in hyperglycemia or uremia)

Donnan Effect and Ionic Distributions

  • Donnan effect: presence of non-diffusible ions (e.g., proteins) on one side of a semipermeable membrane affects distribution of permeable ions, altering osmotic balance and ionic composition.

  • Physiologic consequences:

    • Cell volume regulation: Proteins inside cells increase osmotically active particles; Na⁺/K⁺ ATPase pump maintains volume and pressure.

    • Membrane potential: Unequal ion distribution generates a membrane potential; proteins contribute to this asymmetry.

    • Capillary exchange influenced by Donnan forces due to plasma proteins vs interstitial proteins.

  • Gibbs–Donnan equation (equilibrium concept): at equilibrium, the sum of charges on each side balances; applied to cation–anion pairs of the same valence.

Membrane Potentials and Ion Transport

  • Forces acting on ions across membranes:

    • Chemical (concentration) gradients and electrical gradients together determine ion movement.

    • Equilibrium potential (E_ion) occurs when forces balance; calculated via the Nernst equation.

  • Chloride (Cl⁻) example:

    • Higher [Cl⁻] outside (ECF) drives Cl⁻ inward by chemical gradient; interior is negative, electrical gradient pushes Cl⁻ outward.

    • At equilibrium, E_Cl ≈ −70 mV (resting potential axis explained by gradients).

  • Potassium (K⁺) example:

    • Higher [K⁺] inside drives K⁺ outward by chemical gradient; negative interior pulls K⁺ inward.

    • EK ≈ −90 mV; resting potential around −70 mV; indicates additional factors limit diffusion beyond gradient alone.

  • Sodium (Na⁺) example:

    • Higher outside [Na⁺] drives Na⁺ inward by chemical gradient; negative interior also favors inward movement.

    • ENa ≈ +60 mV; would cause Na⁺ influx if unregulated.

  • Na⁺/K⁺ ATPase (sodium–potassium pump):

    • Actively pumps 3 Na⁺ out and 2 K⁺ in per ATP hydrolysis; maintains low intracellular Na⁺ and high intracellular K⁺.

    • This pump is electrogenic and contributes directly to the resting membrane potential.

  • Establishment of membrane potential:

    • K⁺ efflux via K⁺ channels tends to hyperpolarize the membrane, but the inward electrical gradient pulls K⁺ back in; a steady state maintains a negative resting potential.

    • Only a tiny fraction of total ions participate in maintaining the membrane potential; overall charge neutrality is preserved across the membrane surface.

Energy Production: ATP and Cellular Energetics (continued)

  • ATP as the primary high-energy phosphate currency:

    • ATP hydrolysis provides energy for contraction, transport, and biosynthesis.

    • ATP → ADP is the main energetic step; ADP → AMP provides additional energy release (less common but occurs in some pathways).

  • Oxidative phosphorylation overview:

    • Proton gradient across inner mitochondrial membrane drives ATP synthesis.

    • Majority of cellular O₂ consumption occurs in mitochondria and links to ATP production.

  • Distribution of cellular ATP use (reiterated):

    • Synthesis, membrane potential maintenance, gluconeogenesis, Ca²⁺ handling, muscle contraction, ureagenesis.

Subcellular Energy: Mitochondria, DNA, and Bioenergetics

  • Mitochondria:

    • Numerous per cell; outer membrane and highly folded inner membrane (cristae).

    • Oxidative phosphorylation complexes reside on cristae; mitochondrial matrix houses enzymes of the TCA cycle.

    • Own genome: circular DNA (~16,500 bp); most mitochondrial proteins encoded by nuclear DNA and imported.

    • Maternal inheritance; high mutation rate; mutations linked to energy-demanding tissue diseases.

  • Cellular organelles overview (context for energy and metabolism):

    • Nucleus (DNA storage, transcription)

    • Endoplasmic reticulum (RER with ribosomes for protein synthesis; SER for lipid synthesis and detoxification)

    • Golgi apparatus (protein/lipid modification and packaging)

    • Lysosomes (acid hydrolases for digestion)

    • Peroxisomes (beta-oxidation of very-long-chain fatty acids; detoxification)

    • Mitochondria (ATP production)

    • Cytoskeleton (microtubules, intermediate filaments, microfilaments) for cell shape and transport

Nucleotides, Nucleic Acids, and DNA/RNA Biology

  • Nucleosides vs nucleotides:

    • Nucleoside = sugar + nitrogenous base (purine or pyrimidine).

    • Nucleotide = nucleoside + inorganic phosphate (phosphoric acid residue).

  • Functions of nucleotides:

    • Backbone components of RNA and DNA; coenzymes (e.g., NAD⁺, NADP⁺, ATP); regulatory molecules.

  • Nucleobases and nucleosides:

    • Purines: Adenine (A), Guanine (G)

    • Pyrimidines: Cytosine (C), Uracil (U; RNA only), Thymine (T; DNA only)

  • DNA structure:

    • Two antiparallel nucleotide chains; A pairs with T; G pairs with C via hydrogen bonds.

    • Double helix stabilized by hydrogen bonding and base stacking; compacted with histones into chromosomes.

    • Human genome: diploid number 46 chromosomes.

  • DNA replication and gene expression:

    • DNA replication is semi-conservative; DNA polymerase synthesizes new strands; sister chromatids separate in mitosis.

    • Mitosis yields identical genetic material in daughter cells; meiosis halves chromosome number for gametes.

    • Gene expression is regulated spatially (cell type) and temporally (developmental stage); not all genes are transcribed in every cell.

  • RNA and protein synthesis:

    • RNA synthesized in nucleus from DNA template (transcription) by RNA polymerase.

    • RNA types: mRNA (coding), tRNA (amino acid delivery), rRNA (ribosome structural/enzymatic roles); microRNAs and others exist.

    • Translation occurs on ribosomes; codons on mRNA specify amino acids; tRNA matches codons with anticodons; ribosome catalyzes peptide bond formation.

  • Central dogma and cell cycle basics (link to gene expression):

    • DNA -> RNA -> protein; replication for cell division; cell cycle phases govern when DNA is replicated and when cells divide.

Amino Acids, Proteins, and Metabolism

  • Amino acids as building blocks of proteins:

    • 20 standard amino acids; denoted by 3-letter or 1-letter codes (e.g., Ala, A for alanine).

    • Classified by side chains: aliphatic, hydroxyl-substituted, sulfur-containing, aromatic, acidic, basic, etc.

    • Essential amino acids must be obtained from the diet; conditionally essential amino acids (e.g., arginine, histidine during growth/recovery); nonessential can be synthesized.

  • Peptides vs proteins:

    • Peptides: 2–100 amino acids; proteins: ≥100 amino acids.

  • Amino acids in proteins (typical table categories):

    • Aliphatic: Alanine (Ala, A); Valine (Val, V); Leucine (Leu, L); Isoleucine (Ile, I).

    • Hydroxyl-substituted: Serine (Ser, S); Threonine (Thr, T).

    • Sulfur-containing: Cysteine (Cys, C); Methionine (Met, M); Selenocysteine.

    • Aromatic: Phenylalanine (Phe, F); Tyrosine (Tyr, Y); Tryptophan (Trp, W).

    • Acidic/amide: Aspartic acid (Asp, D); Asparagine (Asn, N); Glutamine (Gln, Q); Glutamic acid (Glu, E); gamma-carboxyglutamic acid (Gla).

    • Basic: Arginine (Arg, R); Lysine (Lys, K); Histidine (His, H); Proline (Pro, P); Hydroxyproline (Hyp).

  • Amino acid metabolism and transamination:

    • Transaminases transfer amino groups; amino acids feed carbon skeletons into energy metabolism or gluconeogenesis.

  • Catabolism classifications (entry points into energy pathways):

    • Ketogenic amino acids: leucine, isoleucine, phenylalanine, tyrosine → converted to acetoacetate (a ketone body) for energy or ketone body synthesis.

    • Glucogenic (gluconeogenic) amino acids: alanine and many others → converted into intermediates that can become glucose.

Carbohydrates, Glucose Metabolism, and Lipids

  • Carbohydrates basics:

    • Monosaccharides (pentoses and hexoses): e.g., ribose (structural roles in nucleotides) and glucose (energy and signaling roles).

    • Disaccharides and polysaccharides (e.g., sucrose, glycogen).

    • Glycoproteins: sugars attached to proteins aid in targeting and signaling.

  • Dietary sugars and glucose:

    • Most dietary carbohydrates are hexose polymers; main circulating sugar is glucose.

    • Normal fasting plasma glucose: 70–110 mg/dL (venous); arterial glucose is 15–30 mg/dL higher.

  • Glucose metabolism:

    • Glucose phosphorylation: glucose → glucose-6-phosphate (G6P).

    • Hexokinase: broad specificity, low Km, not insulin-dependent.

    • Glucokinase (liver): liver-specific, higher Km, induced by insulin, reduced in starvation/diabetes.

    • Fates of G6P:

    • Glycogenesis: glycogen storage (liver and skeletal muscle).

    • Glycogenolysis: glycogen breakdown to release glucose.

    • Glycolysis: breakdown to pyruvate and lactate for energy.

    • Interconversion with other macromolecules:

    • Gluconeogenesis: lactate or non-glucose precursors → glucose.

    • Glucose → fats via acetyl-CoA.

    • Fat to glucose: glycerol yields limited glucose via acetyl-CoA conversion to pyruvate (reversible steps limited by biochemistry).

  • Lipids and lipid metabolism:

    • Major lipid classes: fatty acids and derivatives, neutral fats (triglycerides), phospholipids, sterols.

    • Triglycerides: three fatty acids + glycerol; major energy stores.

    • Fatty acids: even-numbered carbons; saturated (no double bonds) vs unsaturated (one or more double bonds).

    • Phospholipids: structural components of membranes; precursors for signaling molecules.

    • Lipid transport and lipoproteins:

    • Lipids are water-insoluble; transport via lipoprotein complexes.

    • Lipoproteins have a hydrophobic core (triglycerides, cholesteryl esters) and an outer layer of phospholipids, cholesterol, and apolipoproteins.

    • Major classes: chylomicrons, VLDL, IDL, LDL, HDL; densities inversely related to lipid content.

    • Lipoprotein metabolism pathways:

    • Exogenous (intestinal absorption of dietary lipids) and endogenous (liver-derived lipids transported to tissues).

    • Lipoprotein lipase (LPL) and LDL receptors play key roles; reverse cholesterol transport via HDL.

  • Brown fat and energy expenditure (brief):

    • Brown adipose tissue is a smaller fraction of total fat; more abundant in infants; multiple anatomical sites in adults; extensive sympathetic innervation.

Intercellular Communication and Signaling

  • Intercellular signaling modes:

    • Endocrine: hormones travel via blood/lymph to distant targets.

    • Paracrine: local diffusion of mediators to nearby cells.

    • Autocrine: mediators act on the releasing cell’s receptors.

    • Juxtacrine: require direct cell–cell contact.

    • Synaptic (neural): neurotransmitters released at synapses across narrow clefts.

    • Gap junctions: direct cytoplasmic channels allowing rapid exchange of ions and small solutes between adjacent cells.

  • Cell surface receptors and signaling mechanisms:

    • Receptors can be downregulated or upregulated depending on messenger levels (desensitization/adaptation).

    • Four major transmembrane signaling mechanisms:

    • Ligand-gated ion channels (ion flow alters membrane potential).

    • G-protein-coupled receptors (GPCRs): activate heterotrimeric G-proteins, leading to second messenger cascades.

    • Enzyme-linked receptors: enzymatic activity or association triggers intracellular signaling.

    • Intracellular receptors: receptors located inside the cell that respond to lipophilic ligands.

  • Second messengers and kinases:

    • First messengers: extracellular ligands (hormones, neurotransmitters).

    • Second messengers: intracellular signals (cAMP, IP₃, DAG, Ca²⁺, NO) amplify and relay the signal.

    • cAMP pathway: activation of adenylate cyclase → cAMP → PKA activation → phosphorylation of target proteins; PKA may enter nucleus to phosphorylate CREB (cAMP response element-binding protein) to regulate gene transcription.

    • IP₃ and DAG: IP₃ triggers Ca²⁺ release from ER; DAG activates protein kinase C (PKC) and may activate receptor-operated Ca²⁺ channels, further increasing cytosolic Ca²⁺.

    • cGMP pathway: nitric oxide (NO) stimulates guanylate cyclase to increase cGMP; PKG mediates downstream effects; important in vascular signaling and other processes.

  • Ca²⁺ as a second messenger:

    • Stored in ER and other organelles; released via ligand-gated channels (IP₃ receptors, ryanodine receptors) or voltage-gated channels; Ca²⁺-binding proteins propagate downstream effects in contraction, secretion, etc.

  • G-proteins and GPCRs:

    • GPCRs have seven transmembrane helices; activation leads to GDP → GTP exchange on the α-subunit and dissociation of Gα from Gβγ to regulate effectors.

    • GPCRs are major drug targets due to their diversity and central signaling role.

  • Nuclear and cytoplasmic receptors:

    • Some ligands bind intracellular receptors and directly modulate transcription (e.g., steroid hormones, thyroid hormones).

Vesicular Trafficking and Membrane Transport

  • Endomembrane system and trafficking overview:

    • Rough ER synthesizes proteins destined for secretion or membranes; ribosomes attach to cytoplasmic side.

    • Golgi apparatus modifies, sorts, and packages proteins and lipids for delivery to lysosomes, plasma membrane, or secretion.

    • Vesicles shuttle cargo between ER, Golgi, lysosomes, and plasma membrane; vesicular trafficking is regulated by small GTPases and SNARE proteins (v-SNAREs and t-SNAREs).

  • Exocytosis:

    • Secretory vesicles are targeted to the plasma membrane; docking via SNARE complex; fusion releases vesicle contents outside the cell; membrane remains intact; Ca²⁺-dependent.

  • Endocytosis:

    • Uptake of material via membrane invagination and vesicle formation; types include phagocytosis (engulfment of large particles) and pinocytosis (uptake of fluid and solutes).

    • Receptor-mediated endocytosis concentrates cargo via clathrin-coated pits.

  • Vesicular transport pathways:

    • Secretory pathway: ER → Golgi → vesicles → plasma membrane or lysosomes.

    • Recycling pathway: endocytosis and recycling of membrane components.

  • Transport proteins and channels:

    • Passive permeability: small nonpolar molecules (O₂, N₂) diffuse easily; water uses aquaporins.

    • Facilitated diffusion: carrier proteins transport ligands down gradients without energy; some transporters can move substances against gradients (active transport).

    • Primary active transport: uses ATP hydrolysis (e.g., Na⁺/K⁺ ATPase).

    • Secondary active transport: uses energy from the gradient of another ion transported by an initial primary active pump (e.g., Na⁺-coupled transport).

  • Transport modes (examples):

    • Uniport: single-substance transport.

    • Symport: cotransport of two substances in the same direction (e.g., Na⁺-glucose symport).

    • Antiport: exchange of substances in opposite directions.

  • Ion channels and gating:

    • K⁺, Na⁺, Ca²⁺, Cl⁻ channels with various gating mechanisms:

    • Voltage-gated

    • Ligand-gated

    • Mechanosensitive

    • Channel permeability contributes to rapid changes in membrane potential and signaling.

Cytoskeleton, Organelles, and Cell Structure

  • Cytoskeleton components and roles:

    • Microtubules (tubulin): tracks for organelle/vesicle transport; form mitotic spindle during cell division; bidirectional cargo transport.

    • Intermediate filaments: structural support; vary by cell type (e.g., vimentin in fibroblasts; cytokeratin in epithelia); provide mechanical resilience.

    • Microfilaments (actin): support, microvilli formation, lamellipodia for movement; interact with integrins in focal adhesions; serve as tracks for motors in some contexts.

  • Centrosomes and microtubule organization:

    • Centrosome near nucleus; composed of two centrioles and pericentriolar material; centrioles have nine triplets of microtubules.

    • Act as microtubule-organizing centers (MTOCs); essential for spindle formation during mitosis.

  • Nucleus and nucleic acids:

    • Nucleus contains chromosomes; nuclear envelope with pores; nucleolus as site of ribosome synthesis; chromatin = DNA + proteins.

  • Endoplasmic reticulum and ribosomes:

    • Rough ER: ribosomes on cytosolic face; synthesizes proteins for secretion and membranes; initial folding and disulfide bond formation.

    • Smooth ER: lacks ribosomes; lipid synthesis and detoxification; sarcoplasmic reticulum (in muscle) stores/releases Ca²⁺ for signaling and contraction.

  • Golgi apparatus:

    • Polarized with cis (ER-proximal) and trans (plasma membrane-proximal) faces; site for glycosylation; sorting and packaging for delivery.

  • Lysosomes:

    • Acidic lumen (pH ~5.0); contain 40+ hydrolytic enzymes; digest extracellular material and worn-out organelles; safety via acidic pH to limit damage if rupture occurs.

  • Peroxisomes:

    • Contain oxidases and catalases; involved in lipid metabolism and detoxification; numerous enzymes for anabolic/catabolic reactions; targeting signals direct proteins to peroxisomes.

The Nuclear and Genetic Machinery

  • DNA structure and replication:

    • DNA consists of two antiparallel strands forming a double helix; A pairs with T; G pairs with C.

    • Replication is semi-conservative; each daughter cell receives one old and one new strand; DNA polymerases synthesize new strands.

  • Gene expression and regulation:

    • All nucleated somatic cells contain the entire genome; transcription is regulated by cell type, location, and time.

    • Eukaryotic transcription and translation involve processing of mRNA; ribosomes translate mRNA into polypeptides.

  • Chromosomal basics:

    • Ploidy: Diploid (2n) normally; Tetraploid (4n) just before division; aneuploidy is abnormal chromosome number, common in cancer.

  • Meiosis vs mitosis:

    • Mitosis: somatic cell division; maintains chromosome number; creates two identical daughter cells.

    • Meiosis: germ cell division; reduces chromosome number by half; fertilization restores diploidy in zygote.

Central Dogma, RNA, and Protein Synthesis in Cells

  • RNA types and roles:

    • mRNA: carries coding sequence from DNA to ribosome.

    • tRNA: delivers amino acids to ribosome during translation.

    • rRNA: structural/enzymatic component of ribosomes.

  • Translation and post-translational modifications:

    • Ribosome reads mRNA codons; tRNA brings matching amino acids; peptide bonds form to build polypeptides.

    • Post-translational modifications tune protein activity, localization, stability.

Energy Use in Cells: Metabolism and ATP Allocation

  • Overview of energy transduction: substrates feed into glycolysis, TCA cycle, and oxidative phosphorylation; ATP generated is allocated to biosynthetic and transport tasks.

  • Key pathways and connections:

    • Carbohydrate metabolism feeds acetyl-CoA for lipid synthesis; amino acids provide substrates for gluconeogenesis and energy production.

    • Lipids provide dense energy storage in adipose tissue; β-oxidation generates acetyl-CoA for the TCA cycle.

Major Cellular Pathways and Organellar Interactions

  • Golgi and vesicular traffic:

    • Proteins synthesized in the RER are trafficked through Golgi for modification and sorting; vesicles carry cargo to lysosomes, plasma membrane, or secretion.

    • Vesicle targeting and fusion are regulated by SNARE proteins (v-SNAREs and t-SNAREs) and small GTPases.

  • Endocytosis and exocytosis:

    • Exocytosis releases secretory products; endocytosis internalizes external material; both are essential for secretion, nutrient uptake, and receptor turnover.

  • Apoptosis vs necrosis:

    • Apoptosis: programmed cell death under genetic control; caspases (cysteine proteases) are activated; features include DNA fragmentation, chromatin condensation, membrane blebbing; debris phagocytosed without provoking inflammation.

    • Necrosis: cell lysis due to injury; inflammation occurs due to release of cellular contents.

Receptors and Signal Transduction in Cells

  • Four major transmembrane signaling mechanisms (reiterated):

    • Ligand-gated ion channels

    • G-protein-coupled receptors (GPCRs)

    • Enzyme-linked receptors

    • Intracellular receptors (nuclear receptors)

  • First and second messengers:

    • First messengers are extracellular ligands (hormones, neurotransmitters).

    • Second messengers (cAMP, cGMP, IP₃, DAG, Ca²⁺, NO) amplify intracellular signaling.

  • cAMP pathway details:

    • Gs increases adenylate cyclase activity → ↑cAMP → activates PKA → phosphorylation of target proteins; CREB activation may alter gene transcription.

  • cGMP pathway details:

    • NO stimulates soluble guanylate cyclase to produce cGMP; cGMP activates PKG and modulates ion channels and protein activity.

  • Important features:

    • Downregulation/upregulation of receptors modulate cellular responsiveness.

    • Second messengers coordinate short-term and long-term cellular responses (enzyme activity, exocytosis, transcriptional regulation).

Intercellular Junctions and Communication in Tissues

  • Tight junctions (zonula occludens):

    • Located at apical margins of epithelial cells; seal paracellular space, control leakiness, and maintain cell polarity by restricting lateral diffusion of membrane proteins.

    • Molecular components: occludin, claudins, junctional adhesion molecules, and cytosolic plaque proteins.

  • Zonula adherens and focal adhesions:

    • Zonula adherens: basal to tight junctions; cadherins link cells and connect to actin filaments.

    • Focal adhesions: anchor cells to basal lamina; link to actin cytoskeleton; dynamic structures involved in migration.

  • Desmosomes and hemidesmosomes:

    • Desmosomes: patch-like junctions with cadherins; connect intermediate filaments of adjacent cells.

    • Hemidesmosomes: half-desmosomes that attach cells to extracellular matrix via integrins; connect to intermediate filaments inside the cell.

  • Gap junctions:

    • Cytoplasmic tunnels formed by connexons; allow passage of ions, sugars, amino acids (< ~1000 Da) and signaling molecules; enable rapid electrical and chemical coupling between cells.

Receptors, Signaling, and Clinical Relevance

  • Major CAM families and adhesion:

    • Integrins (heterodimers) bind to extracellular matrix and ligands; connect to cytoskeleton; mediate signaling and mechanical stability.

    • Immunoglobulin (Ig) superfamily adhesion molecules; cadherins (Ca²⁺-dependent) mediate homophilic cell–cell adhesion; selectins mediate leukocyte-endothelial interactions.

  • Intercellular communications recap (diagrammatic):

    • Juxtacrine signaling requires direct contact; paracrine and autocrine use diffusion in interstitial fluid; endocrine uses circulation; synaptic uses neurotransmitter diffusion across synaptic cleft.

  • Receptors and ligands:

    • Downregulation/upregulation balance receptor availability; effects depend on receptor density and signaling context.

Practical Illustrations and Selected Figures (from the Transcripts)

  • Isotonic solutions and tonicity examples:

    • 0.9% saline is isotonic with plasma; no net water movement across red blood cell membranes.

    • 5% glucose is initially isotonic but becomes hypotonic as glucose is metabolized, drawing water into cells.

  • Donnan effect and cell volume:

    • Non-diffusible intracellular proteins shift ionic balance and water distribution; Na⁺/K⁺ ATPase counters osmotic swelling.

  • Membrane potentials and NK/Nernst principles:

    • Equilibrium potentials for each ion are determined by gradients and charge; resting membrane potential emerges from the balance of K⁺ leak and Na⁺/K⁺ ATPase activity.

  • Key numerical references:

    • Plasma osmolality contributors: ~270 mOsm/L from Na⁺ and accompanying anions; glucose ~5 mOsm/L; urea ~5 mOsm/L.

    • Typical resting potential: ~−70 mV; EK ≈ −90 mV; ECl ≈ −70 mV; ENa ≈ +60 mV.

    • Na⁺/K⁺ ATPase: 3 Na⁺ out, 2 K⁺ in per ATP hydrolyzed; electrogenic contribution to membrane potential.

Core Formulas and Key Relationships (LaTeX)

  • pH definition:

    • ext{pH} = -\,\log_{10}([\mathrm{H^+}])

  • Henderson–Hasselbalch:

    • \text{pH} = \text{p}K_a + \log\left(\frac{[\mathrm{A^-}]}{[\mathrm{HA}]}\right)

  • Carbonic acid–bicarbonate system (reversible):

    • \mathrm{CO2 + H2O \rightleftharpoons H2CO3 \rightleftharpoons H^+ + HCO_3^-}

  • Nernst equation (ion equilibrium potential; simplified at 37°C):

    • E{ion} = \frac{RT}{zF} \ln \left(\frac{[\text{ion}]{\text{out}}}{[\text{ion}]{\text{in}}}\right) \\approx \frac{61.5\ \text{mV}}{z} \log{10}\left(\frac{[\text{ion}]{\text{out}}}{[\text{ion}]{\text{in}}}\right)

  • Na⁺/K⁺ ATPase stoichiometry:

    • \text{Na}^+/\text{K}^+\ \text{ATPase}: 3\;\text{Na}^+\;\text{out},\ 2\;\text{K}^+\;\text{in} \\text{per ATP hydrolysis}

  • Energy partition (illustrative):

    • \%\text{ATP usage} = {27, 24, 9, 6, 5, 3}\%\quad \text{(protein synthesis, Na⁺/K⁺ ATPase, gluconeogenesis, Ca²⁺ ATPase, myosin ATPase, ureagenesis)}

Notes for Exam Preparation

  • Understand how energy production integrates substrate oxidation, electron transport, and ATP synthesis; relate to tissue energy needs (e.g., muscle vs neurons).

  • Be able to compare compartments (ICF vs ECF) and explain why diffusion/osmosis determine fluid distribution and edema risk.

  • Explain pH control mechanisms: buffers, respiratory compensation, and renal compensation; apply Henderson–Hasselbalch to buffer systems (bicarbonate, phosphate, protein buffers).

  • Describe membrane potential generation and maintenance, including roles of K⁺ leak channels and Na⁺/K⁺ ATPase.

  • Memorize core organelle functions and their contributions to metabolism and protein processing (RER, SER, Golgi, lysosomes, peroxisomes, mitochondria).

  • Distinguish carbohydrate, lipid, and protein metabolism pathways; know key entry points of amino acids into energy metabolism (glucogenic vs ketogenic) and the overall fate of glucose in glycolysis, gluconeogenesis, and glycogen storage.

  • Recognize signaling pathways (cAMP, IP₃/DAG, Ca²⁺, cGMP) and the roles of GPCRs, enzyme-linked receptors, and nuclear receptors in cellular responses.

  • Understand the differences between apoptosis and necrosis, including the role of caspases and the implications for inflammation and tissue remodeling.

  • Be familiar with the exocytic and endocytic pathways and how vesicular trafficking enables secretion, receptor turnover, and nutrient uptake.

References

  • Ganong’s Review of Medical Physiology, 26th Edition (Kaye S. De Leon-Nolasco; Chapter 1–2 references in the transcript).

  • Barrett, K. E., Barman, S. M., Brooks, H. L., & Yuan, J. (2019). Ganong’s review of medical physiology (26th ed.). McGraw-Hill Education.