Cellular Biology Flashcards

1
Q

oxidative phosphorylation

A

occurs in the mitochondria and is the mechanism by which the energy produced from carbohydrates, fats and proteins is transferred to ATP.
- sometimes NAD is needed to transfer ions when breaking down glucose (catabolism)

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2
Q

Describe the structure and function of the nucleus.

A

Nucleus structure - surrounded by nuclear envelope which is two layers. Nucleus contains the nucleoulous composed of ribonucleic acid, cellular DNA, and DNA-binding proteins.

Nucleus Function: Cell division and control of genetic information. Other functions also include replication and repair of DNA.

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3
Q

State the functions of a typical Eukokaryotic cell

A

Movement - muscle cells, organ cells that move items through hollow cavities
• Conductivity - chief function of nerve cells. a respond to a stimulus and is a wave of
excitement
• Metabolic absorption - all cells can take in and absorb nutrients and other substances
from their surroundings
• Secretion - mucous gland cells can synthesize new substances from substances they
absorb and then secrete the new substances as needed elsewhere
• Excretion - all cells rid themselves of waste products resulting from the metabolic
breakdown of nutrients
• Respiration - cells absorb oxygen, which transforms nutrients into energy (ATP) (happens
in mitochondria)
• Reproduction - tissue growth occurs as cells enlarge and reproduce themselves
• Communication - is vital to all cells to survive as a society of cells

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4
Q

Describe the structure and function of the plasma membrane.

A

Function - control the composition of the space, or compartment, that they enclose. Can
include or exclude various molecules and exert a powerful influence on metabolic pathways.
cell-to-cell recognition. Cellular mobility and maintenance of cellular shape.

Structure - outer surface has caveolae (storage sites for receptors and provide route for
transport into the cell). Made of lipids and proteins.
* hydrophobic heads, hydrophilic tails

  • carbohydrates on cell membrane aid in intracellular recognition
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5
Q

passive vs. active transport

A

Passive transport: water and small, electrically uncharged molecules move easily through pores in the plasma membrane’s lipid layer. Occurs natrually through a semi-permeable barrier. Driven by osmosis, hydrostatic pressure, and diffusion - all depend on laws of physics and do not require life. No energy expenditure.

  • Diffusion: movement from area of greater concentration to area of lesser solute concentration
    * difference - in concentration of solute is concertration gradient. higher concentration on one side = larger diffusion rate
    * filtration - movement of water and solutes through a membrane because of a greater pushing pressure (force) on one side of the membrane than the other side.
    - hydrostatic pressure - mechanical force of water pushing against cellular membranes
    * osmosis - movement of water “down” a concentration gradient. membrane must be more permeable to water than to solutes and concentration of solutes on one side must be greater than that on the other side.
    • osmolality: weight
    • osmolarity: volume

Active transport: too large to pass through membrane objects or ligands (bound to receptors on the cell’s plasma membrane). Requires life, biologic activity, and cell’s expenditure of metabolic energy. occurs accross ONLY living membranes that 1) use energy generated by cellular metabolism 2) have receptors that can recognize and bind with the substance to be transported. exps = endocytosis, exocytosis, protein channels, receptor-mediated endocytosis.
* active mediated transport: moves molecules against or UP the concentration gradient. requires the expenditure of energy.

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6
Q

endocytosis vs. exocytosis

A

endocytosis: large molecules and fluids are transported, taken into the cell
- enfolds substances from outside the cell, invaginates, and separates from the plasma membrane.
* pinocytosis - cell drinking. ingestion of fluids and solute molecules through formation of small vesicles
* phagocytosis - cell eating. ingenstion of large particles (like bacteria) through the formaiton of large vesicles.

Exocytosis: large molecules and fluirs are expelled, taken out of the cell. Secretion of macromolecules almost alays occur in exocytosis.
2 fxns 1) replacement of portions of the plasma membrane that have been removed by endocytosis 2) release of molecules synthesized by the cells into extracellular space

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7
Q

What are proteins in relation to the plasma membrane?

A

Made of amino acids (20) and are very versatile. Integral membrane proteins only removed from membrane by detergents that solubilize the lipid. Peripheral membrane proteins are not imbedded in the bilayer but reside at one surface or the other.

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8
Q

Mitosis and cytokinesis

A

reproduction of body cells (minus sperm and egg). must double in mass and duplicate it’s contents.
mitosis = nuclear divison
cytokinesis = cytoplasmic division

Phases:
S phase (synthasis) – G2 phase gap (protein and RNA synthesis occurs — M phase mitosis (nuclear and cytoplasmic division) — G1 phase
1. Interphase: G1, S, G2 phases
- longest phase of the cell cycle. chormatin starts as long and by end of it is coiled (short and thick)
2. M phase:
- prophase: the appearance of chromosomes, to chromatids (2 identical halves)
- metaphase: chormosomes pulled to opposite sides of the cell then organize in the middle of the cell. nuclearn envelope goes away
- anaphase: centromeres split and chromatids are pulled apart. by the end, 46 chromosomes lie at each side of the cell.
- telophase: nuclear membrane is formed around each group of 46 chromosomes and the chromosomes begin to uncoil. cytoplasm divides into two equal parts. two daughter cells are formed in the end of telophase.

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9
Q

the stimulation of cell proliferation by growth factors

A

Growth Factors = cytokines = peptides that transmit signals within and between cells. Major role in regulation of tissue growth and development.

  • platelet derivded growth factor (PDGF) - stimulates proliferation of connective tissue cells and neurologic cells
  • Epidermal Growth Factor (EGF): epidermal cells and other types
  • insulin-like growth factor 1 (IGF-1): collaborates with PDGF and EGF stimulates fat cells and connective tissue cells
  • Vascular endothelial growth factor (VEGF): mediates functions of cells
  • insulin like growth factor 2 (IGF-2): stimulates or inhibits response of most cells to other growth factors

MORE ON PAGE 23

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10
Q

Pattern Formation

A

the process by which differentiated cells create tissues and organs.

  • to form tissues cells must: exhibit intercellular recognition and communication, adhesion, and memory.
  • Specialized cells can sense their environment through signals, such as growth factors, from other cells. This ensures that new cells are only produced when and where they are needed.
  • other cells have adhesion molecules in their plasma membranes that stick to selective other cells
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11
Q

epithelial tissue

A

1) simple squamous epithelium
- single layer of cells
- Location: line blood vessels, pulmonary alveoli (air sacs)
- Function: diffusion and filtration, separation of blood from fluids in tissue, separation of air from fluids in tissue

2) Stratified squamous epithelium
- two or more layers, with cuboidal cells closest to basement membrane
- location: epidermis of skin, linings of mouth, pharynx, esophogus, anus
- Fucntion: protection and secretion

3) transitional epithelium
- vary in shape from cuboidal to swuamous. When bladder is full the cuboidal cels stretch and all are flat
- location: lining of urinary bladder and other hollow structures
- function: stretching that permits expansion of hollow organs

4) simple cuboidal epithelium
- simple cuboidal cells, rarely stratified (layered)
- location: glands (thyroid, sweat, salivary), parts of kidney tubule and outer covering overy
- function: secretion

5) simple columnar epithelium (and ciliated - in bronchi of lungs, nasal cavity oviducts)
- large amounts of cytoplasm and cellular organelles
- location: lining of digestive tract
- function: secretion and absorption from stomach to anus

6) stratified columnar epithelium
- small and rounded basement membrane
- location: linings of epiglottis, part of pharynx, anus and male urethra
- function: protection
Pseudostratified ciliated columnar epithelium
- all cells in contact with basement membrane
- location: linings of large ducts of some glands, male urethra, respiratory passages, eustachian tubes of ears

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12
Q

Connective Tissue

A

1) loose or areolar tissue
- unorganized, spaces between fibers
- location and function : attaches skin to underlying tissue, holds organs in place by filling spaces, supports blood vessels

2) dense irregular tissue
- dense, compact, areolar tissue, with fwer cells and greater number of closely woven collagenous fibers than in loose tissue
- location and function: demris layer of the skin; acts as protective barrier

3) dense, regular (white fibrous) tissue
- collagenous fibers and some elastic fibers, tightly packed into parallel bundles, with only fibroblast cells
- location and function: forms strong tendons and muscles, ligaments and joints, some fibrous membranes and fascia that surround organs and muscles

4) elastic tissue
- elastic fibers, some collagenous fibers, fibroblasts
- location and function: lends strength and elasticity to walls or arteries, trachea, vocal chords, and other structures.

5) adipose tissue
- fat cells dispersed in loose tissues; each cell contains a large droplet of fat
- location and function: stores fat, which provides padding and protection

6) cartilage (hyaline, elastic, fibrous)
- collagenous fibers embedded in a firm matrix; no blood supply
- location and function: gives form, support, flexibility to joints, trachea, nose, ear, vertebral disks, embryonic skeleton, and many internal structures

7) Bone
- rigid connective tissue consisting of cells, fibers, ground substances, minerals
- location and function: lends skeleton rigidity and strength

8) special connective tissues
* plasma - fluid, serves as matrix for blood cells

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13
Q

muscle tissues

A

1) Skeletal Muscle
long, cylindrical cells that extend throughout he length of the muscles
- striated myofibrils, many nuclei on periphery
- attached to bones directly or through tendons

2) cardiac muscle
- branhing networks throughout muscle tissue, striated myofibrils
- cells attached end-to-end at intercalated disks; tissue forms walls of heart (myocardium)
- involuntary pumping action of the heart

3) smooth (visceral) muscle
- long spindles that taper to a point, absent of striated myofibrils
- walls of hollow internal structures, such as digestive tract
- voluntary and involuntary contractions that move substances through hollow structures.

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14
Q

Describe cellular catabolism and the transfer of energy needed to accomplish other cellular processes

A

Energy releasing process of cellular metabolism (task of maintaining essential cellular functions)

  • phase 1: DIESTION extracellular digestion of large molecules to simple subunits (food — proteins, lipids, fats —- amino acids, simple sugars, fatty acids)
  • Phase 2: GLYCOLYSIS/OXIDATIONintracellular breakdown of subunits to acetyl CoA accompanied by production of limited ATP and NADH (glycolosis creates ATP and turns into pyruvate or acetyl CoA)
  • Phase 3: CITRIC ACID CYCLE production of NADH yielding ATP via electron transport; waste products are extorted (citric acid cycle, excretion)
  • ATP - transfers energy when glucose breaks down in presence of o2 or co2. 7 kal per ATP
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15
Q

anaerobic glycolysis

A

when o2 is not available to the electron transport chain, ATP will not be formed by mitochondria.

  • conversion of glucose to pyruvic acid with simultaious production of ATP.
  • One molecule of glucose = 2 ATP and 2 pyruvate – then they enter the citric acid cycle
  • if not O2, pyruvate is converted to lactic acid . once o2 is restored, then lactic acid turns abck into pyruvic acid or glucose.
  • not as effective as aerobic cycle
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16
Q

passive vs. active transport

A

Passive transport: water and small, electrically uncharged molecules move easily through pores in the plasma membrane’s lipid layer. Occurs natrually through a semi-permeable barrier. Driven by osmosis, hydrostatic pressure, and diffusion - all depend on laws of physics and do not require life. No energy expenditure.

  • Diffusion: movement from area of greater concentration to area of lesser solute concentration
    * difference - in concentration of solute is concertration gradient. higher concentration on one side = larger diffusion rate
    * filtration - movement of water and solutes through a membrane because of a greater pushing pressure (force) on one side of the membrane than the other side.
    - hydrostatic pressure - mechanical force of water pushing against cellular membranes
    * osmosis - movement of water “down” a concentration gradient. membrane must be more permeable to water than to solutes and concentration of solutes on one side must be greater than that on the other side.

Active transport: too large to pass through membrane objects or ligands (bound to receptors on the cell’s plasma membrane). Requires life, biologic activity, and cell’s expenditure of metabolic energy. occurs accross ONLY living membranes that 1) use energy generated by cellular metabolism 2) have receptors that can recognize and bind with the substance to be transported. exps = endocytosis, exocytosis, protein channels, receptor-mediated endocytosis.

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17
Q

endocytosis vs. exocytosis

A

endocytosis: lage molecules and fluids are transported, taken into the cell
Exocytosis: large molecules and fluirs are expelled, taken out of the cell.

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18
Q

action potential’s effect on the plasma membrane

A

*resting membrane potential - all cells are electrically polarized and inside of cell is more negative than outside. This is the difference in electrical charge more potassium inside cells and calcium outside cells
* ACTION POTENTIAL - when a nerve or muscle cell receives a simulus taht excedes the membrane threshhold value, a rapid change occurs in the resting membrane potential.
.. as a result, the cell membranes become more permeable to sodium so sodium moves into the cell then the moves from a negative value to 0. (depolarization)
…repolarization is the negative polarity of the resting membrane potential is reestablished. potassium starts to comes in and evens out sodium.

  • hyperpolarized = membrane potential is more negative than normal (less excitable state). strong stimulus is needed to generate an action potential
  • hypopolarized = membrane potential is more positive than normal, weaker than normal stiumlus is needed to reach threshhold potential.
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19
Q

Mitosis and cytokinesis

A

reproduction of body cells (minus sperm and egg)
mitosis = nuclear divison
cytokinesis = cytoplasmic division

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20
Q

the stimulation of cell proliferation by growth factors

A

Growth Factors = cytokines = peptides that transmit signals within and between cells. Major role in regulation of tissue growth and development.

  • platelet derivded growth factor (PDGF) - stimulates proliferation of connective tissue cells and neurologic cells
  • Epidermal Growth Factor (EGF): epidermal cells and other types
  • insulin-like growth factor 1 (IGF-1): collaborates with PDGF and EGF stimulates fat cells and connective tissue cells
  • Vascular endothelial growth factor (VEGF): mediates functions of cells
  • insulin like growth factor 2 (IGF-2): stimulates or inhibits response of most cells to other growth factors
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21
Q

Pattern Formation

A

the process by which differentiated cells create tissues and organs.

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22
Q

epithelial tissue

A

1) simple squamous epithelium
- single layer of cells
- Location: line blood vessels, pulmonary alveoli (air sacs)
- Function: diffusion and filtration, separation of blood from fluids in tissue, separation of air from fluids in tissue

2) Stratified squamous epithelium
- two or more layers, with cuboidal cells closest to basement membrane
- location: epidermis of skin, linings of mouth, pharynx, esophogus, anus
- Fucntion: protection and secretion

3) transitional epithelium
- vary in shape from cuboidal to swuamous. When bladder is full the cuboidal cels stretch and all are flat
- location: lining of urinary bladder and other hollow structures
- function: stretching that permits expansion of hollow organs

4) simple cuboidal epithelium
- simple cuboidal cells, rarely stratified (layered)
- location: glands (thyroid, sweat, salivary), parts of kidney tubule and outer covering overy
- function: secretion

5) simple columnar epithelium (and ciliated - in bronchi of lungs, nasal cavity oviducts)
- large amounts of cytoplasm and cellular organelles
- location: lining of digestive tract
- function: secretion and absorption from stomach to anus

6) stratified columnar epithelium
- small and rounded basement membrane
- location: linings of epiglottis, part of pharynx

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23
Q

Connective Tissue

A
  • blood, bone, fat, lymph

1) loose or areolar tissue
- unorganized, spaces between fibers
- location and function : attaches skin to underlying tissue, holds organs in place by filling spaces, supports blood vessels

2) dense irregular tissue
- dense, compact, areolar tissue, with fwer cells and greater number of closely woven collagenous fibers than in loose tissue
- location and function: demris layer of the skin; acts as protective barrier

3) dense, regular (white fibrous) tissue
- collagenous fibers and some

4) elastic tissue: collagen. walls of arteries, trachea, coeval chorus
5) adipose tissue: stores fat
6) cartilate (hyaline, elastic, fibrous): no blood supply, firm matrix of cells
7) bone: rigis connective tissue with cells, fibers, ground substances, minerals
8) special = plasma

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24
Q

skeletal/muscular muscle

A

long, cylindrical cells that extend throughout he length of the muscles

  • striated myofibrils, many nuclei on periphery
  • attached to bones directly or through tendons
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25
Q

nervous tissue

A

composed of highly specialized cells called neurons, which receive and transmit electrical impulses rapidly accross junctions called synapses.
- neurons and glial cells

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26
Q

Golgi complex

A
  • responsible for processing and packaging proteins onto secretory vesicles
  • endocytosis: things coming into cell go through the golgi to figure out what it is, where it needs to go.
  • exocytosis: packages products for secretion through the golgi
  • packager, shipper and receiver (packaging department)
  • exocytosis and endocytosis
  • packages proteins for export and forms secretory vessels

The Golgi apparatus receives proteins and lipids (fats) from the rough endoplasmic reticulum. It modifies some of them and sorts, concentrates and packs them into sealed droplets called vesicles. Depending on the contents these are despatched to one of three destinations:

Destination 1: within the cell, to organelles called lysosomes.
Destination 2: the plasma membrane of the cell
Destination 3: outside of the cell.

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27
Q

mitochondria

A
  • “factory” = power house for the cell
  • carries out cellular respiration
  • produces ATP
  • glucose = fuel, end product = ATP
  • oxidative phosphorylation: the metabolic pathway in which the mitochondria in cells use their structure, enzymes, and energy released by the oxidation of nutrients to reform ATP.
28
Q

lysosomes/peroxisomes

A
  • originate in golgi complex and contain enzymes for digesting cellular waste. aids in cellular self destruction when needed. “Garbage truck”
  • L digests macromolecules and cell debris
  • P breaks down fatty acids, hydrogen peroxide
  • digestive enzymes that degrade organic products
29
Q

nucleus

A
  • largest membrane bound organelle
  • control center of cell, directs protein synthesis
  • houses DNA, genes
  • histones that bind to DNA cause DNA to fold into chromosomes
  • primary function is cell division and control of genetic information
  • genetic info is transcribed into RNA, which can be processed into messenger, transport, and ribosomal RNA then directed into the cytoplasm

The DNA contained in a nucleus is tightly packed into chromosomes, which must be unwound prior to cell division and DNA replication. DNA transcription into mRNA takes place in the nucleus. Translation of the mRNA into peptides is done by ribosomes in the cytoplasm.

30
Q

endoplasmic reticulum (ER)

A
  • spcializes in synthesis and transport of protein and lipid components of most organelles.

The surface of the rough endoplasmic reticulum (RER) is studded with protein-manufacturing ribosomes giving it a “rough” appearance (hence its name).[2] However, the ribosomes bound to the RER at any one time are not a stable part of this organelle’s structure as ribosomes are constantly being bound and released from the membrane. A ribosome only binds to the ER once it begins to synthesize a protein destined for the secretory pathway.[3] Here, a ribosome in the cytosol begins synthesizing a protein until a signal recognition particle recognizes the pre-piece of 5-15 hydrophobic amino acids preceded by a positively charged amino acid. This signal sequence allows the recognition particle to bind to the ribosome, causing the ribosome to bind to the RER and pass the new protein through the ER membrane. The pre-piece is then cleaved off within the lumen of the ER and the ribosome released back into the cytosol.

Rough endoplasmic reticulua synthesize proteins, while smooth endoplasmic reticulua synthesize lipids and steroids, metabolize carbohydrates and steroids, and regulate calcium concentration, drug detoxification, and attachment of receptors on cell membrane proteins.

31
Q

Ribosomes

A
  • RNA-protein complexes synthesized in nucleus and secreted into cytoplasm. Provide sites for cellular protein synthesis.
  • translation - mrna translation and building amino acid polypeptide chains
  • Ribosomes are the protein-synthesizing machines of the cell.
    -Ribosomes that synthesize proteins for use within the cytosol (e.g., enzymes of glycolysis) are suspended in the cytosol.
    Ribosomes that synthesize proteins destined for:
    secretion (by exocytosis)
    the plasma membrane (e.g., cell surface receptors)
    lysosomes
    are attached to the cytosolic face of the membranes of the endoplasmic reticulum.
32
Q

cytoskeleton

A
  • made of proteins
  • actin = walker, microtubules = structure (particularly prevalent in muscle cells)
  • actin proteins move along skeleton
  • protein = structure, communication, transport
33
Q

DNA replication

A
  • transcription: happens in the nucleus. a particular segment of DNA is copied into RNA by the enzyme RNA polymerase.
  • translation: happens in the cytoplasm. the process in which cellular ribosomes create proteins.
  • replication: he process of producing two identical replicas from one original DNA molecule
34
Q

why are proteins/lipids important?

A
  • genes = proteins
  • selective receptors and transporters in and out of cell
  • the polar head groups of phospholipids are exposed to the aqueous medium, while the nonpolar hydrocarbon chains of the fatty acids are in the center.
  • cell membrane: hydroPHOBIC inside the layer, hydrophilic outside the cell membrane. lipid soluble items can pass through
35
Q

prokaryote vs. eukaryote

A

prokaryote: bacteria, acaria. no nucleus/organelles. Yes ribosomes
eukaryote: human cells, fungus, plants. membrane-bound organelles

36
Q

cellular signaling

A

1) autocrine: self secreter (gives itself messages/nutrients and creates it as well)
2) paracrine: secretion b/n direct neighbor cells
3) hormonal: carried to cells through the blood stream
4) neurotransmitter: released by neurons and carried through synaptic clefts
5) neurohormonal secretion: neural signals that actually travel through the blood
6) diffusion vs. transport: The solute can move “downhill,” from regions of higher to lower concentration, relying on the specificity of the protein carrier to pass through the membrane. This process is called passive transport or facilitated diffusion, and does not require energy.
• The solute can move “uphill,” from regions of lower to higher concentration. This process is called active transport, and requires some form of chemical energy.

37
Q

mitosis vs. meiosis

A
  • Mitosis is a process of cell division that results in two genetically identical daughter cells developing from a single parent cell.
  • asexual
  • no gametes produced (sperm egg)
  • general cell division
  • exp: epithelial tissue cell lining
  • Meiosis, on the other hand, is the division of a germ cell involving two fissions of the nucleus and giving rise to four gametes, or sex cells, each possessing half the number of chromosomes of the original cell.
  • sexual
  • produce gamates
  • make mini MEs
38
Q

what is a tissue?

A

group of cells w similar functions that act together

39
Q

what is DNA?

A
  • sugar phosphate ladder with bases rungs
    *exception = mitochondrial DNA
  • made of codons: triplets of bases A, C, T, G that specify the production of protein.
    adenosine pairs with thyomine A-T
    guanine pairs withy cytosine G-C
40
Q

DNA as the Genetic Code

A
  • DNA directs the synthesis of all the body’s proteins.
  • proteins = polypeptides made of amino acids
  • – body has 20 amino acids made up of different combinations of nitrogen bases ATCG = codons (3 bases each, 64 total combinations)
41
Q

protein synthesis

A

1) transcription from DNA to MRNA
2) gene splicing (introns and exons) - pre-mrns into functional mrna via removal of introns, thus only eons remain
3) translation from myna to AA chain

42
Q

passive vs. active transport through cell membrane

A

Passive = no ATP used; moves small molecules from high to low concentrations (types: simple diffusion and facilitated diffusion)

simple= passing of small, uncharged, lipid soluble molecules (CO2, O2) from high to low through membrane directly

facilitated= passing of small, potentially charged, water soluble molecules (H2O, Na+, K+, Cl-, glucose) from high to low through protein channels in membrane

Active = expenditure of ATP, moves large molecules/things by vesicles OR small things from LOW to HIGH concentrations (Pumps)

Vesicles= Endocytosis (moving into the cell) and Exocytosis (moving out of the cell) (like bacteria, waste, “big things”)

Pumps= Ions move against their concentration gradient to get pumped to higher concentrations (ex. Na/K pump)

43
Q
  • mutations

- Why are polymorphisms least pathological and frameshift mutations most pathological?

A
  • any inherited alteration of genetic material. may cause disease of be subtle that do not change amino acids

1) polymorphisms = LEAST pathological “many forms” = changing genes, human diversity. geneticists use the term genetic polymorphisms to describe the inter-individual, functionally silent differences in DNA sequence that make each human genome unique
2) point mutation = simple change in one base of the gene sequence. base pair substitution (1 base pair replaces another)
3) base pair subsitution: “silent mutation” = doesn’t always become apparent because it is so small - missense and nonsense
4) frameshift mutation: MOST pathological. insertion or deletion of one or more base pairs of the DNA molecule. can greatly alter amino acid sequence. * changes the entire reading frame of the DNA because not all 3 in the codon are replaced, just one or two which makes all of them not line up*
- insertion: addition of extra DNA and can result in non-functional DNA
- deletion: missing DNA. can affect large or small ways
5) inversion: an entire section of DNA is reversed

  • mutagens: increase the frequency of mutation. exp: radiation and chemicals.
    spontaneous mutations are VERY rare (absence of mutagens)
44
Q

-How many total chromosomes do humans normally have? How many are autosomes? Sex chromosomes?

A
  • chromosomes contain genes
  • gamates = human cells, sperm and eggs
  • somatic cells = all cells other than gametes
    * somatic cells have 43 chromosomes with 23 pairs. form through mitosis and cytokinesis
    * diploid cells: mom and dad each contribute 1 chromosome pair
    • haploid cells: only 1 member of each chromosome pair, for a total of 23 chromosomes. formed from diploid cells through meiosis
  • autosomes: 22 chromosomes are homoglogus
  • sex chromosomes: 2 homologus from from females XX, and two nonhomologus from males XY
45
Q

-What is polyploidy? Trisomy?

A
  • polyploidy = cells w multiple of the normal number of chromosomes are EUPLOID cells
  • when a euploid cell has more than the diploid number of chromosomes, is is a POLYPLOID cell
  • triploidy/trisomy = zygote that has 3 copies of each chromosome (usually 2)
  • euploid cells then have 92 chromosomes. no postnatal survival. live births is only 1 in 10k. 10% of all miscarriages.
46
Q

-Trisomy 13 (Patau) is most pathologic, Trisomy 21 (Down’s) is more common and least pathologic.

A

ANEUPLOIDY = a cell that does not contain a multiple of 23 chromosome is an aneuplod cell
TRISOMY = a cell w 3 copies of one chromosome. can live with certain forms
MONOSOMY = only one copy of chromosome in duploid cell LETHAL loss of chromosome material is worse than duplicates of chromosome material
* kelinfelter syndrome: (47, xxy) - two x chromosomes and one y, long limbs, small testes

  • trisomy 13: patau syndrom –> flatted facial features, cleft lip, low set ears, genital malformations, nervous system problems. 70% die within 6 months
    Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers or toes, an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate), and weak muscle tone (hypotonia). Due to the presence of several life-threatening medical problems, many infants with trisomy 13 die within their first days or weeks of life.
  • trisomy 21: down syndrome –> physical and intellectual delay in development. congenital heart defects, vision and hearing problems, flat face, upward slanting eyes.
    Trisomy 21- More than 90 % of Down syndrome cases are caused by trisomy 21. An extra chromosome (chromosome 21) originates in the development of either the sperm or the egg. When the egg and the sperm unite to form the fertilized egg, three (rather than two) chromosomes 21 are present. As the cells divide the extra chromosome is repeated in every cell.
  • patrial trisomy = an extra portion of a chromosome is present in each cell - less severe consequence
  • chromosomal mosaics = the body has two or more different cell lines
47
Q

-What is genotype? Phenotype?

A
  • genotype: set of genes and individual has in its genome

* phenotype: physical or observable attributes as coded by genes and the environment that contribute to these attributes

48
Q

-What makes traits polygenic or multifactorial?

A
  • POLYGENIC traits: several genes acting together to produce traits. genotype of multi genes act together to create cumulative complex traits
  • MULTIFACTORIAL traits: environmental factors influence the expression of traits exp: height and IQ. *exp pyloric stenosis
49
Q

Mode of inheritance

A
1) autosomal recessive: mutation on 1 of 23 chromosomes
1 mutaiton 
- genotype - rN
- phenotype - normal w 'silent' carrier
2mutations
geno - rr
pheno - presentation of characteristics

2) autosomal dominant: mutation on 1 of 23 chromosomes
1 mutation
- genotype - Dn
- phenotype - presentation of characteristics
2 mutations
- geno DD
- pheno presentation of characteristics

3) x - linked recessive: genetic mutation on x chromosome
female one mutation - Xx/normal with carrier
female 2 mutations - xx/presentaiton of disease
male one - xY/presentation of disease
male 2 - cannot have two x

4) x - linked dominant: genetic mutation on x chromosome
female one - Xx presentation of disease
female two - XX presentation
male one XY presentation

50
Q

atrophy

A

decrease or shrinkage in cellular size. if it occurs in many cells of an organ the entire organ shrinks or becomes atrophic.

  • most common in skeletal muscle, heart, secondary sex organs, and the brain
  • exp; if laying in hospital bed for a long time skeletal muscle becomes disuse atrophy
51
Q

hypertrophy

A

increase in size of cells, and size of organ as a result.

  • cells of heart and kidney are prone to hypertrophy
  • increased accumulation of protein in the cellular components but NOT in cell fluid
  • exp: skeletal muscles increase in response to heavy work. if a kidney is removed the other kidney increases work load and therefore increases in size
52
Q

hyperplasia

A

incrase in number of cells resulting from an increased rate of cellular division.

  • compensatory and hormonal
  • enables certain organs to regenerate (removal of some of the liver makes the rest of the liver regenerate)
  • skeletal muscle and miocardial muscle cannot regenerate so they use hormoal ways of hperplasia
53
Q

metaplasia

A

reverasable replacement of one mature cell type by another, sometimes less-differentialed cell type
- exp; bronchial airwell columnar cells are replaced with stratified squameous cells that do not produce mucus

54
Q

dysplasia

A

abnormal changes in the size, shape, and organization of mature cells. “atypical hyperplasia”
- exp: epithelial tissue of cervix and respiratory tract. often found next to cancer cells. dysplasia is reversible if stimulus is removed

55
Q

hypoxia

A

lack of sufficient oxygen

  • most common cause of cellular injury
  • results from lack of air, loss of hemoglobin, or decreased efficiency of hemoglobin, decreased production of blood cells, disease or resp. or cardio systems, poisoning of oxidative enzymes within the cell
  • ischemia (reduced blood supply) is most common cause
56
Q

BPD

A

Bronchopulmonary dysplasia involves abnormal development of lung tissue. It is characterized by inflammation and scarring in the lungs. It develops most often in premature babies, who are born with underdeveloped lungs.

57
Q

cellular adaptation

A

arophy, hypertrophy, hyperplasia, and metaphasia

58
Q

active cell injury

A

immediate response of the entire cell

1) reversible - loss of ATP, cellular swelling, detachment of ribosomes, autphagy of lysosomes
2) irreversible - severe vasolization of the mitochondria occur and calcium moves into cell
3) apoptosis - programmed cell death. physiologi cellular self destruction for elimination of unwanted cell populations
* lack of a apoptosis = increased cancer risk, autoimmune disorders

59
Q

Chronic cell injury

A

subcellular alterations

- persistent stimuli response may involve only specific organelles or cytoskeleton

60
Q

accumulations or infiltrations

A

water, pigments, lipids, glycogen, proteins

61
Q

pathologic calcification

A

dystrophic and metastic calcification

62
Q

Apoptosis

A

active process of programmed cell death

  • avg adult produces and kills of 10 billion cells
  • regulates and provides physiologic homeostasis
  • physiologic apoptosis: local deletion of cells during tissue turnover and normal embryonic development.
  • pathologice apoptosis: result of intracellular events or adverse exogenous stimuli

exP; hep C will cause massive portions of the liver to undergo apoptosis;

63
Q

absence of apoptosis

A
  • causes serious pathologic change

- can cause cancer

64
Q

tumor suppressor genes vs. oncogenes

A

TSG - Genes that turn OFF or DECREASE the rate of cell
division. Genes that repair DNA mistakes. Genes that play a role in apoptosis.

O: Genes that turn ON or INCREASE the rate of cell division. When these genes are active CELLS GROW and DIVIDE. When normal cells stop
dividing, the genes turn off.

65
Q

karyohexis

A

fragmentation and destruction of the nucleus

- primary marker for apoptosis

66
Q

caveolae

A
  • provide a rote for transport in cell membrane

- storage site for many receptors

67
Q

membranes

A

major components = lipids and proteins

  • lipids = amphipathic =one side hypdophobi and one side hydrophilic
  • proteins = made of chaing of amino acids/polypeitides. embedded in the membrane and linked to phospholipid or fatty acid chains
  • proteins can only be removed from the membrane by detergents that solubilize (dissolve) the lipid