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Cell Membrane Structure and

Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

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Page 1: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

Cell Membrane Structure and

Function

Page 2: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

Cystic Fibrosis

•most common autosomal recessive disease affecting Caucasian populations – •incidence of 1 in 2000 births

•Clinical features – •pulmonary obstruction and infection – •recurrent and persistent infections – •exocrine pancreatic dysfunction – •infertility, especially in males

Page 3: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

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Page 4: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

Diagnosis

• failure to thrive -child fails to gain weight despite a good appetite

• sweat test -chloride concentration greater than 60 meq/liter

• life expectancy now often >30 years

• this was the disease most people thought would be a good candidate for gene therapy

Page 5: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

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Page 6: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

Metabolic Basis of Disease

• defect in a single gene on chromosome 7 that encodes a cAMP-regulated chloride channel

• called Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)

• resides on the apical surface of epithelial cells lining the airways, intestines, vas deferens, sweat ducts, and pancreatic ducts

Page 7: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

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Page 8: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

Genetics and Epidemiology

• autosomal recessive

• 4-5% of Americans have at least one CF allele

• >900 different mutations (.F508, ~70% of CF alleles)

• ~50% of the patients are homozygous for the .F508 mutation

Page 9: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

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Page 10: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

Consequences of Disease

• Loss of CFTR function

– fluid secretion is insufficient

– protein portions of the secretions become viscous

– results in obstruction in the ducts and eventual organ dysfunction

Page 11: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

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Page 12: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

Lung Disease• accounts for much of the morbidity and nearly all the

mortality from the disease

• bacterial infections become soon after birth, and remain difficult to stop

• Pseudomonas aeruginosais the main agent in patients 18 or older

• bacterial resistance to antibiotics results in mucoid coating of lungs, and subsequent decline in lung

Page 13: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

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Page 14: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

Cystic Fibrosis

Page 15: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

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Page 16: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

Membrane Functions

• Isolate the cell’s contents from the external environment

• Regulate traffic in and out of the cell

• Communicate with other cells

Page 17: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

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Page 18: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

II. Plasma membrane structure and functions

The phospholipid bilayer and isolation

1. Impermeable to water-soluble and polar molecules, ions

2. Permeable to small and nonpolar molecules

3. Lipids oriented with polar heads facing out

Page 19: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

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Page 20: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

tails(hydrophobic)

head(hydrophilic)

Page 21: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

hydrophobictails

hydrophilicheads

hydrophilicheads

extracellular fluid(watery environment)

cytoplasm(watery environment)

phospholipid

bilayer

Page 22: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

Membrane Structure and Function

• Membranes are “fluid mosaics” with proteins embedded in or attached to the membrane

• Proteins can move within the fluid lipid bilayer

Page 23: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

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Page 24: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

extracellular fluid (outside)

cytoplasm (inside)

protein filaments

recognition protein receptor protein transport protein

binding site

phospholipid bilayer

phospholipid cholesterol

carbohydrate

Page 25: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000
Page 26: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

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Page 27: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000
Page 28: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

Types of Membrane Proteins

1. Transport proteins

– regulate the movement of water-soluble molecules across the membrane

• Channel proteins

• Carrier proteins

Page 29: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

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Page 30: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

Types of Membrane Proteins

2. Receptor Proteins

• trigger cellular response when specific molecules bind to them

Nervous system

Endocrine system

Page 31: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

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Page 32: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

Types of Membrane Proteins

3. Recognition proteins

• act as ID tags and cell surface attachment sites

– the immune system

Page 33: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

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Page 34: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000
Page 35: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

• Key Classes of Membrane Proteins •• A.Transport channels-Intergral

– 1. Membrane selects what substances will enter – 2. Take up molecules present in high concentration– 3 Part of protein extends through bilayer – 4. May be non polar helix beta-pleated sheets of non polar

amino acids – 5. Non polar portion held within interior of bilayer – 6. Polar ends protrude from both sides of membrane

• B. Enzymes – 1. Chemical reactions carried out on interior surface of

membrane • 2. Enzymes attached directly to membrane-carry out actions within the cell

• 3. Cell surface receptors-glycoproteins, glycolipids, oligosaccharides

– a. Membranes sensitive to chemical messages – b. Receptor proteins on surface act as antennae-

interpresurroundings– c. Receptors for extra cellular signals are

also single-pass anchors – d. Portion of receptor that sticks outward

binds with molecules – e. Binding induces changes in part of protein

on the inside

Page 36: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

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Page 37: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

• C. Glycoproteins-MH-ID tags -recognition

– a.self recognition-cells to other cells – b. Creates proteins/carb chains shaped for specific person

– c. self recognition– 2. Glycolipid-

» a. Tissue recognition» b. Lipid/carb chain» c. Specific for each tissue» d. Blood types

• D. Cell adhesion proteins – a. Cells use certain proteins to glue

themselves to one another – b. Some are detachable, others are permanent

• 4. Attachments to the cytoplasm-peripheral – a. Surface proteins may interact with other

cells – b. Often linked to cytoskeleton by proteins

Page 38: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

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Page 39: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

The Extracellular Matrix

• Structure: – Glycoproteins– Collagen– Glycolipids

• Functions:– Support, adhesion, movement– In Embryonic development - guides

movement of cells

Page 40: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

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Page 41: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

Intracellular Junctions

Tight junctions– Epithelial cells (surface): Seal cells together

– Prevent molecules from ‘leaking’ through between cells --> Keep integral proteins in place

• Adherins junctions:– Transmembrane proteins that span 2 cells

– Hold cardiac cells together

– May be responsible for contact inhibition

Page 42: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

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Page 43: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

More junctions

• Gap Junctions: permit flow of substances b/w cells flow of ions – allow all cells of heart to contract @ same time– allow muscles in uterus to contract simultaneously during

childbirth

• Desmosomes: patches that hold cells together– Breakdown of desmosomes may contribute to metastasis of

cancer

• Plasmodesmata:– Allow for continuous stream of cytoplasm b/w plant cells

Page 44: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

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Page 45: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

Transport across membranes

• Passive transport is a function of molecular size, lipid solubility, and size of the concentration gradient

1. Simple diffusion

Page 46: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

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Page 47: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

1 A drop of dye is placed in water.

2 Dye molecules diffuse into the water; water molecules diffuse into the dye.

drop of dye

pure water

3 Both dye molecules and water molecules are evenly dispersed.

Page 48: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

(a) simple diffusion

(extracellular fluid)

(cytoplasm)

Page 49: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

Transport across membranes

Passive transport…(cont.)

– 2. Osmosis

• a. Isotonic • b. Hypertonic • c. Hypotonic

Page 50: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

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Page 51: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

free water molecule: can fit through pore

bound water moleculesclustered around sugar:cannot fit through pore

pore

sugar

H2O

bagbursts

selectively permeable membrane

water molecule

pure water

sugar molecule

(a)

selectively permeable membrane

(b)

Page 52: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

(a) isotonic solution (b) hypertonic solution (c) hypotonic solution

10 micrometers

equal movement of waterinto and out of cells

net water movement out of cells

net water movement into cells

Page 53: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

Transport across membranes

Passive transport…(cont.)

– 3. Facilitated diffusion

Page 54: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

ions

(b) facilitated diffusion through a channel

channelprotein

proteins formingpermanenthydrophilic channel

Page 55: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

(extracellular fluid)

(cytoplasm)Carrier protein has binding site for molecule.

amino acids,sugars,

small proteins

(c) facilitated diffusion through a carrier

carrier protein

Molecule enters binding site.

Carrier protein changesshape, transporting moleculeacross membrane.

Carrier protein resumes original shape.

Page 56: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000
Page 57: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

Transport across membranes

Energy-requiring transport

1. Active transport • Ion gradients and energy

production

2. Endocytosis

3. Exocytosis

Page 58: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

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Page 59: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

(extracellular fluid)

Transport protein binds ATP and Ca2+.

Transport protein uses energy from ATP to change shape and moveion across membrane.

Transport protein resumes original shape.

(cytoplasm)

transport protein

ATP binding

site

recognitionsite

ATP

Ca2+

Page 60: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

(extracellular fluid)

(cytoplasm)

food particle

particle enclosed in vesicle

phagocytosis

vesicle containing extracellular fluid

cell

pseudopod

pinocytosis

(a)

(b)

133

2

1 32

Page 61: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

(extracellular fluid)

(cytoplasm)

vesicle

plasma membrane

1

32

plasma membranesecretedmaterial

0.2 micrometer

Page 62: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000
Page 63: Cell Membrane Structure and Function. Cystic Fibrosis most common autosomal recessive disease affecting Caucasian populations –incidence of 1 in 2000

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