Please enable JavaScript.

Coggle requires JavaScript to display documents.

PBL Case 1 - Coggle Diagram

- - - - Phenylketonuria?
- - - - The building blocks of proteins
      - play vital roles in various physiological processes, including protein synthesis, metabolism, and signaling
      - 20 standard amino acids
      - Basic structure consists of
        
        Amino Group (-NH₂)
        
        Carboxyl Group (-COOH)
        
        Hydrogen Atom (H)
        
        Side Chain (R-group)
        
        Differs for each amino acid and determines its chemical properties
      - Classification of Amino Acids
        
        Non-Essential Amino Acids
        
        Can be synthesized in the body
        
        Conditionally Essential Amino Acids
        
        Normally non-essential, but become essential under certain conditions like illness or stress
      - Properties of Amino Acids
        
        Hydrophilic (Polar)
        
        Amino acids with side chains that interact well with water
        
        Hydrophobic (Non-polar)
        
        Amino acids with side chains that do not interact well with water
        
        Charged
        
        Can be acidic or Basic
    - - Large, complex molecules composed of chains of amino acids
      - functional and structural components of cells
      - Structure of Proteins
        
        Proteins are made up of one or more polypeptide chains
        
        long sequences of amino acids linked together by peptide bonds
        
        The structure of a protein is critical to its function
        
        Primary Structure: The linear sequence of amino acids in the polypeptide chain
        
        Secondary Structure: Local folding patterns within a polypeptide
        
        Alpha-helix
        
        Beta-pleated sheet
        
        Tertiary Structure
        
        three-dimensional shape of a single polypeptide chain
        
        formed by interactions between R-groups (side chains)
        
        Quaternary Structure
        
        arrangement of two or more polypeptide chains to form a functional protein complex
        
        Functions of Proteins
        
        Structural
        
        Collagen
        
        Enzymatic
        
        Enzymes like amylase or DNA polymerase catalyze biochemical reactions
        
        Transport
        
        Hemoglobin transports oxygen
        
        membrane channels regulate ion flow
        
        Defense
        
        Antibodies protect against pathogens
        
        Signaling
        
        Hormones and receptors
        
        Movement
        
        Muscle proteins like actin and myosin are responsible for contraction
      - Protein Synthesis
        
        occurs through two major processes
        
        Transcription
        
        DNA is transcribed into mRNA in the nucleus
        
        Translation
        
        mRNA is translated into a specific sequence of amino acids (polypeptide) at the ribosome in the cytoplasm
        
        The sequence of amino acids determines the structure and function of the resulting protein
      - Protein Degradation
        
        continuously synthesized and degraded in the body
        
        Ubiquitin-proteasome system
        
        Damaged or misfolded proteins are tagged with ubiquitin and degraded
        
        Autophagy
        
        Larger protein aggregates and organelles are broken down in lysosomes
  - - - To break down complex molecules into simpler ones, releasing energy.
        
        Glycolysis, where glucose is broken down to produce ATP, the energy currency of the cell.
    - - To build complex molecules from simpler ones, which requires energy.
        
        Protein synthesis, where amino acids are assembled into proteins.
        
        Used for Growth, tissue repair, and synthesis of essential molecules
    - - Catalysts that speed up metabolic reactions.
      - Each enzyme is specific to a particular reaction
    - - The main energy carrier in cells.
      - Energy released during catabolism is stored in the form of ATP, which is then used for anabolic processes.
    - - Electron carriers involved in oxidation-reduction (redox) reactions
      - crucial for energy production in processes like the electron transport chain
    - - A series of connected enzymatic reactions.
        
        Glycolysis: Converts glucose into pyruvate, yielding ATP and NADH
        
        Citric Acid Cycle (Krebs Cycle): Further breaks down pyruvate to produce NADH, FADH2, and GTP/ATP.
        
        Oxidative Phosphorylation: Uses NADH and FADH2 to produce large amounts of ATP in the mitochondria.
        
        Gluconeogenesis: Produces glucose from non-carbohydrate sources.
        
        Lipogenesis: Synthesizes fatty acids from acetyl-CoA.
    - - Metabolism is tightly regulated by -
        
        allosteric enzymes
        
        hormones (e.g., insulin, glucagon)
        
        Feedback inhibition to ensure balance between energy production and consumption.
    - - All rhe chemical processes that occur within a living organism in order to maintain life
    - - Vitamins
        
        Vital Amines
        
        Fat soluble - A, D, E, K
        
        Water Soluble - B-complex, C
        
        Functional Classifications:
        
        Hormone precursors
      - Minerals
      - Essential Amino Acids
      - Essential Fatty Acids
      - Other essential nutrients including ions etc
      - NO essential Carbs
        
        Synthesized by other compounds
      - Must remain within an individual specific range - Too much or too little is bad
  - - - Must be acquired from diet
    - - Histidine (His)
        
        Involved in growth and tissue repair.
      - Isoleucine (Ile)
        
        Important for muscle metabolism.
        
        Plays a role in hemoglobin production and energy regulation.
      - Leucine (Leu)
        
        Critical for protein synthesis and muscle repair.
        
        Helps regulate blood sugar levels and stimulates growth hormone production.
      - Lysine (Lys)
        
        Vital for collagen formation, which is important for skin, cartilage, and connective tissue.
        
        Helps in calcium absorption and immune function.
      - Methionine (Met)
        
        A precursor for S-adenosylmethionine (SAM), involved in methylation reactions.
        
        Necessary for the synthesis of cysteine (conditionally essential) and creatine, and also important in detoxification.
      - Phenylalanine (Phe)
        
        Precursor for neurotransmitters like dopamine, norepinephrine, and epinephrine.
        
        Individuals with PKU cannot metabolize Phenylalanine
        
        Converted into tyrosine, which is involved in thyroid hormone production.
      - Threonine (Thr)
        
        Crucial for protein structure and function, especially in collagen, elastin, and enamel proteins.
        
        Plays a role in immune function and fat metabolism.
      - Tryptophan (Trp)
        
        Precursor for serotonin and Melatonin
        
        Plays a role in nitrogen balance in the body.
      - Valine (Val)
        
        Important for muscle growth, tissue repair, and energy production
        
        One of the three branched-chain amino acids (BCAAs), along with leucine and isoleucine, which are particularly important for muscle metabolism.
  - - - the transmission of genetic material from parents to their offspring
      - Key Inheritance Patterns:
        
        Mendelian Inheritance
        
        Dominant Inheritance
        
        Recessive Inheritance
        
        Non-Mendelian Inheritance
        
        Incomplete Dominance
        
        The heterozygote shows a blend of both traits
        
        Codominance
        
        Both alleles are fully expressed in the phenotype
        
        X-linked Inheritance
        
        Genes located on the X chromosome, where males (XY) are more affected by mutations in X-linked recessive genes than females (XX)
        
        Mitochondrial Inheritance
        
        Mitochondria have their own DNA, and mutations in mitochondrial genes are passed only from the mother to offspring
    - - Structure of DNA
        
        Nucleotides: The basic units of DNA
        
        A phosphate group
        
        A deoxyribose sugar
        
        A nitrogenous base (Adenine [A], Thymine [T], Cytosine [C], Guanine [G])
        
        Double Helix: The two strands of DNA are held together by hydrogen bonds between complementary base pairs
        
        Adenine pairs with Thymine (A-T)
        Cytosine pairs with Guanine (C-G)
      - DNA Function
        
        Storage of Genetic Information
        
        Replication
        
        Gene Expression
        
        Segments of DNA (genes) are transcribed into RNA and then translated into proteins, which carry out various cellular functions
  - - - Share 100% of their DNA
        
        If a patient has twins/siblings it can be good to find out if they present the same symptoms
    - - Share 50% of their DNA
        
        Same as regular siblings
  - - - Dominant Alleles attributes will be present if inherited
    - - Recessive Allele attributes will only be present if both inherited Allele are recessive
        
        PKU is a recessive gene - Individuals can inherit the Allele and present no symptoms (Carriers)
    - - A gene is a segment of DNA that codes for a specific protein or function
        
        Humans have about 20,000-25,000 genes
      - Alleles: Different versions of a gene
        
        For each gene, an individual inherits two alleles (one from each parent)
      - Genotype
        
        The genetic makeup of an individual
      - Phenotype
        
        The physical or observable traits that result from gene expression and environmental factors
      - Homozygous
        
        An individual has two identical alleles for a gene
      - Heterozygous
        
        An individual has two different alleles for a gene
      - Genetic Variation
        
        Mutation
        
        A change in the DNA sequence that can lead to variation in traits
        
        Mutations can be harmless, beneficial, or cause genetic diseases:
        
        Polymorphisms
        
        Common genetic variations that occur in the population
      - Gene Regulation
        
        Genes are not always "on.
        
        Gene expression can be regulated by factors like transcription factors, epigenetic modifications and environmental influences
  - - - Jade will be feeling anxious over not knowing the implication of PKU
    - - thinking they could have done something differently during pregnancy.
    - - Jade may be stressing over the possible implications of PKU
    - - May be feeling inadequate for not listening to the nurse
    - - The level of care and
    - - validating their emotions
      - reinforcing positive beliefs ("You are a good parent")
      - providing flexible care models that empower them to bond with their infant.
      - affirming the parents’ role
    - - Jade's lack of knowledge of PKU may make the information feel daunting