The Cell and Disease Quiz
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Questions and Answers

What percentage of the human genome is ultimately transcribed?

  • 90%
  • 75%
  • 85% (correct)
  • 80%
  • What is the primary function of caveolae in eukaryotic cells?

  • Transport of macromolecules via clathrin-coated vesicles
  • Support cell migration through microtubules
  • Formation of tight junctions between cells
  • Internalization of receptors and transmembrane signaling (correct)
  • Which regions of DNA are associated with the critical architectural planning of the genome?

  • Exons
  • Telomeres and centromeres (correct)
  • Introns
  • Transcription factors
  • Which type of endocytosis is characterized by 'cellular sipping'?

    <p>Potocytosis (C)</p> Signup and view all the answers

    What role do promoter and enhancer regions play in the human genome?

    <p>They provide binding sites for transcription factors. (D)</p> Signup and view all the answers

    What is the diameter range of actin microfilaments?

    <p>5-9 nm (A)</p> Signup and view all the answers

    What is the primary composition of satellite DNA?

    <p>Large arrays of repeating sequences. (A)</p> Signup and view all the answers

    What proportion of the genome is transcribed into RNAs that are never translated?

    <p>60% (A)</p> Signup and view all the answers

    Receptor-mediated endocytosis primarily occurs at which specialized regions of the plasma membrane?

    <p>Clathrin-coated pits (B)</p> Signup and view all the answers

    Which protein is the main structural component of caveolae?

    <p>Caveolin (C)</p> Signup and view all the answers

    Which functional non-protein-coding sequences could be crucial in disease causation?

    <p>Regulatory RNAs (C)</p> Signup and view all the answers

    Which cytoskeletal structure primarily drives cell migration?

    <p>Actin microfilaments (C)</p> Signup and view all the answers

    What aspect of genetic variation is highlighted as potentially more important in disease causation?

    <p>Variation in gene regulation (A)</p> Signup and view all the answers

    Why is satellite DNA important in addition to spindle apparatus attachment?

    <p>To maintain heterochromatin organization. (C)</p> Signup and view all the answers

    What type of molecules are primarily internalized through caveolae?

    <p>GPI-linked molecules (C)</p> Signup and view all the answers

    Which of the following functions is NOT associated with caveolae?

    <p>Macromolecule transport via clathrin-coated vesicles (B)</p> Signup and view all the answers

    What does the term 'pathology' primarily refer to?

    <p>The study of disease (C)</p> Signup and view all the answers

    According to Virchow, where does disease originate?

    <p>At the cellular level (B)</p> Signup and view all the answers

    What process allows for transcellular transport in the opposite direction for specific receptors and ligands?

    <p>Transcytosis (D)</p> Signup and view all the answers

    Which of the following accurately describes the influence of cellular pathologies?

    <p>They arise from perturbations in genes, proteins, and metabolites. (A)</p> Signup and view all the answers

    What is the significance of molecular perturbations in understanding diseases?

    <p>They explain disease pathogenesis and can drive therapeutic discovery. (D)</p> Signup and view all the answers

    What causes osmotic swelling in cells during injury?

    <p>Loss of Na+ gradient generation (D)</p> Signup and view all the answers

    Which cellular component is involved in maintaining cell populations?

    <p>Extracellular Matrix (C)</p> Signup and view all the answers

    Which ions are typically expelled from the cell to prevent overhydration?

    <p>Na+ (A)</p> Signup and view all the answers

    What is the main function of the multidrug resistance (MDR) protein?

    <p>Pump polar compounds out of cells (C)</p> Signup and view all the answers

    What is primarily studied within the context of cellular signaling?

    <p>Signal transduction pathways (D)</p> Signup and view all the answers

    What role does noncoding DNA play in cellular functions?

    <p>It influences regulatory mechanisms in the genome. (A)</p> Signup and view all the answers

    What defines the endocytosis process when the vesicle is large?

    <p>Phagocytosis (C)</p> Signup and view all the answers

    What characteristic is true about lysosomal enzymes?

    <p>Are active primarily at pH 5 or less (C)</p> Signup and view all the answers

    How do micro-RNA and long noncoding RNA contribute to cellular mechanisms?

    <p>They play roles in gene regulation and expression. (D)</p> Signup and view all the answers

    What is the result of hypertonicity in relation to cell water movement?

    <p>Net water outflow from the cell (C)</p> Signup and view all the answers

    What drives the direction of water movement in relation to solute concentrations?

    <p>Passive processes (D)</p> Signup and view all the answers

    What modification occurs to lysosomal enzymes in the Golgi apparatus?

    <p>Phosphorylation with mannose-6-phosphate (D)</p> Signup and view all the answers

    How are macromolecules delivered to lysosomes?

    <p>Through trans Golgi vesicles expressing M6P receptors (C)</p> Signup and view all the answers

    What is the primary source of mitochondrial DNA in the fertilized zygote?

    <p>Maternal inheritance from the ovum (D)</p> Signup and view all the answers

    What is the process called that involves the degradation of obsolete mitochondria?

    <p>Mitophagy (A)</p> Signup and view all the answers

    Which statement is true regarding the dynamics of mitochondria?

    <p>They constantly undergo fission and fusion (A)</p> Signup and view all the answers

    Which process transports senescent organelles to lysosomes?

    <p>Autophagy (C)</p> Signup and view all the answers

    What are the estimated half-lives of mitochondria?

    <p>1 to 10 days (C)</p> Signup and view all the answers

    How are proteins synthesized in mitochondria initiated?

    <p>With N-formylmethionine (C)</p> Signup and view all the answers

    What is the primary role of mitochondria within a cell?

    <p>Energy generation (A)</p> Signup and view all the answers

    What function is associated with the rough endoplasmic reticulum?

    <p>Synthesis of membrane and export protein (A)</p> Signup and view all the answers

    Which intracellular compartment is most prominent in terms of total volume?

    <p>Cytosol (D)</p> Signup and view all the answers

    What is the main purpose of compartmentalizing cellular functions?

    <p>To efficiently manage potentially injurious enzymes or metabolites (B)</p> Signup and view all the answers

    Which of the following organelles is most directly involved in apoptosis?

    <p>Mitochondria (D)</p> Signup and view all the answers

    What percentage of total cell volume do lysosomes occupy?

    <p>1% (A)</p> Signup and view all the answers

    Which organelle is primarily responsible for the modification and sorting of proteins?

    <p>Golgi apparatus (B)</p> Signup and view all the answers

    Which role is NOT associated with peroxisomes?

    <p>Protein synthesis (C)</p> Signup and view all the answers

    Which of the following best describes the function of endosomes?

    <p>Intracellular transport and export (B)</p> Signup and view all the answers

    What is the purpose of having high concentrations of certain metabolites or enzymes in defined compartments?

    <p>To optimize efficiency while preventing cellular damage (C)</p> Signup and view all the answers

    Flashcards

    Pathology

    The study of disease, focusing on the cellular level.

    Cellular Pathologies

    A complex chain of molecules (genes, proteins, and metabolites) within cells that influence their survival and behaviors.

    Genome

    The complete set of genetic instructions in a cell.

    Noncoding DNA

    DNA sequences that aren't directly translated into proteins but still have vital functions.

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    Cytoskeleton

    The structural building blocks of the cell, responsible for maintaining shape and movement.

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    Cell-Cell Interactions

    The process by which cells interact with their environment and each other.

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    Endoplasmic Reticulum and Golgi

    A complex network of internal membranes involved in protein synthesis and modification.

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    Maintaining Cell Populations

    Cellular mechanisms that regulate cell growth, division, and death.

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    Promoter and Enhancer Regions

    DNA regions that initiate and regulate gene expression

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    Binding Sites for Chromatin Organization

    These are DNA sequences that bind proteins to organize and maintain the structure of chromatin

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    Noncoding Regulatory RNAs

    RNAs that don't code for proteins but regulate gene expression

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    Satellite DNA

    Large arrays of repeating DNA sequences found in centromeres, important for maintaining heterochromatin structure

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    Telomeres

    Chromosome ends that protect against degradation

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    Noncoding Regions

    The portion of the genome that is transcribed into RNA but never translated into protein

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    Noncoding Regions and Disease

    Variations in gene regulation may be more important in causing disease than changes in proteins

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    Proteomics

    The set of all proteins expressed in a cell, tissue, or organism

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    Organelle

    A structure within a cell that performs a specific function, like a mini-organ.

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    Cytoplasm

    The fluid inside a cell that contains all the organelles.

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    Mitochondrion

    The powerhouse of the cell, generates energy (ATP).

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    Endoplasmic Reticulum (ER)

    A network of membranes involved in protein synthesis and modification.

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    Lysosome

    A small, rounded organelle that digests cellular waste and worn-out organelles.

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    Vesicle

    A membrane-bound sac that transports materials within the cell.

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    Nucleus

    The control center of the cell, containing DNA.

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    Nucleolus

    A small, dense region within the nucleus where ribosomes are produced.

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    Peroxisome

    A small, membrane-bound organelle that helps break down fatty acids and other molecules.

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    Phagocytosis

    The process by which cells engulf large particles, such as bacteria, debris, and food, by forming vesicles called phagosomes.

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    Transcytosis

    The process by which cells transport substances across their membranes, from the extracellular space to the intracellular space, and vice versa.

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    Osmosis

    The movement of water across a semipermeable membrane from a region of high water concentration to a region of low water concentration.

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    Active Transport

    The process by which cells move substances across their membranes against a concentration gradient, requiring energy.

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    Secondary Active Transport

    A type of active transport that uses the energy stored in the Na+ gradient to move other substances across the membrane.

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    Pinocytosis

    The process by which cells internalize fluids and small molecules via small vesicles.

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    Endocytosis

    The inward movement of molecules into a cell.

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    Exocytosis

    The outward movement of molecules from a cell.

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    Caveolae-mediated Endocytosis

    A type of endocytosis where the membrane forms small pockets called caveolae to take in specific molecules.

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    Caveolin

    The major structural protein found in caveolae, which are small pockets in the cell membrane.

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    Receptor-mediated Endocytosis

    A form of endocytosis where a receptor on the cell membrane binds to a specific molecule, causing a pocket to form and bring it into the cell.

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    Clathrin-coated pits

    Special regions on the cell membrane coated with clathrin, which are proteins that help form pockets for receptor-mediated endocytosis.

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    Actin Microfilaments

    A type of cytoskeletal fiber made of the protein actin, responsible for cell shape, movement, and muscle contraction.

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    Microtubules

    A type of cytoskeletal structure made of tubulin, responsible for transporting materials inside the cell, moving chromosomes during cell division, and maintaining cell shape.

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    Lysosomal Enzyme Transport

    Lysosomal enzymes are initially synthesized in the ER lumen and then tagged with mannose-6-phosphate (M6P) within the Golgi apparatus. These M6P-modified proteins are subsequently delivered to lysosomes through trans Golgi vesicles that express M6P receptors.

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    Endocytosis and Lysosomal Activity

    Material internalized by fluid-phase or receptor-mediated endocytosis passes from the plasma membrane to early and then late endosomes and ultimately arrives at the lysosome. These compartments are progressively acidified such that proteolytic enzymes become active in late endosomes and lysosomes.

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    Autophagy and Lysosome

    Senescent organelles and/or large, denatured protein complexes can be ferried into lysosomes by a process called autophagy. Through a mechanism involving the products of a number of autophagy-related (Atg) genes, obsolete organelles are corralled by a double membrane derived from the ER.

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    Unique Mitochondrial Features

    Mitochondria initiate protein synthesis with N-formylmethionine and are sensitive to some antibacterial antibiotics.

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    Maternal Inheritance of Mitochondrial DNA

    Mitochondrial biogenesis requires a genetic contribution from preexisting mitochondria, and the ovum contributes the vast majority of cytoplasmic organelles in the fertilized zygote. Thus, mitochondrial DNA is almost entirely maternally inherited.

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    Mitochondrial Disorder Inheritance

    Mitochondrial disorders may be X-linked, autosomal, or maternally inherited because the protein constituents of mitochondria are encoded by both nuclear and mitochondrial DNA.

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    Mitochondrial Fission and Fusion

    Mitochondria are constantly undergoing fission and fusion with other newly synthesized mitochondria. This supports their renewal and defends against degenerative changes that occur through ongoing oxygen free radical damage.

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    Mitochondrial Lifespan and Degradation

    Mitochondria are short-lived, being degraded through autophagy (mitophagy) with estimated half-lives of 1 to 10 days depending on the tissue, nutritional status, metabolic demands, and intercurrent injury.

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    Study Notes

    The Cell as a Unit of Health and Disease

    • Pathology is the study of disease, originating at the cellular level.
    • Disease arises from perturbations in molecules, affecting cell survival and behaviors.
    • The human genome comprises ~3.2 billion DNA base pairs.
    • Protein-encoding genes make up only ~1.5% of the genome.
    • The remaining ~98.5% is non-coding DNA, crucial for gene regulation and "architectural planning."
    • The human genome shares ~99.5% DNA identity between individuals.
    • Non-protein-coding sequences include promoters, enhancers, regulatory RNAs (microRNAs and long noncoding RNAs), mobile genetic elements (transposons), and structural regions like telomeres and centromeres.
    • Single nucleotide polymorphisms (SNPs) and copy number variations (CNVs) are the two main types of DNA variation in the human genome.
    • SNPs are single nucleotide position variants and typically biallelic (two choices).
    • CNVs are variations in numbers of DNA sequences, from 1000 base pairs up to millions.
    • Histones and histone-modifying factors are crucial for DNA compaction.
    • Nucleosomes wrap DNA around histone cores.
    • Chromatin remodeling changes nucleosome positions, affecting gene regulation.
    • Histone marks (methylation, acetylation, and phosphorylation) influence DNA accessibility and transcription.
    • DNA methylation generally silences gene expression.

    Cellular Housekeeping

    • Normal cell function requires efficient compartmentalization.
    • Intracellular organelles (e.g., cytosol, mitochondria, endoplasmic reticulum, Golgi) carry out specific cellular functions.
    • Proteasomes degrade proteins.
    • Lysosomes digest macromolecules.
    • Peroxisomes break down fatty acids.
    • Plasma membranes regulate transport and protect the cell from the outside environment.
    • The cytoskeleton (actin filaments, intermediate filaments, and microtubules) supports structure and movement.
    • Transport proteins (channels and carriers) facilitate solute movement.
    • Membrane transport mechanisms exist for various substances (ions, nutrients, etc.), often driven by concentration or electrical gradients.

    Cellular Activation

    • Intercellular communication is essential for cell development and tissue maintenance.
    • Signals regulate cell differentiation, proliferation, and survival.
    • Signal transduction pathways trigger intracellular events in response to external cues.
    • Receptors (surface or intracellular) bind signaling molecules and transmit signals.
    • Modular signaling proteins and hubs contribute to intricate signaling networks.
    • Transcription factors control gene expression, influencing cellular activity.

    Growth Factors and Receptors

    • Growth factors stimulate cell proliferation, survival, and differentiation.
    • Many growth factors are involved in tissue regeneration and repair.
    • Growth factors bind to specific receptors, activating signaling pathways.

    Gene Editing

    • CRISPR-Cas9 system is a powerful gene editing tool.
    • guide RNAs target specific DNA sequences for cleavage.
    • Gene editing can correct mutations and introduce new genetic material with precision.

    Stem Cells

    • Stem cells can self-renew and differentiate into specialized cell types.
    • Embryonic stem (ES) cells are pluripotent, able to form all cell types.
    • Adult stem cells are multipotent, differentiating into specific cell types.
    • Stem cells reside in niches, where they are regulated by soluble factors and other cells.
    • iPS cells are induced from somatic cells to exhibit stem cell-like characteristics.

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    Description

    Test your knowledge on pathology and the cellular origins of disease. This quiz covers the intricacies of the human genome, including DNA structure, coding and non-coding sequences, and variations like SNPs and CNVs. Explore how cellular disruptions relate to health and disease processes.

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