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Biochem (exam 2)
Contractile Systems (exam 2)
49
Biochemistry
Professional
09/29/2013

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Term
• The cytoskeleton is required for...
Definition
structural strength and motility of eukaryotic cells.

cytoskeleton functions in a cell- and tissue-specific context
Term
T/F Prokaryotes contain some type of cytoskeleton
Definition
TRUE
Term
Cytoskeleton Components
Definition
o Microfilaments
o Intermediate filaments
o Microtubules
o Motor proteins
o Supporting fibers
Term
basic monomer of microfilaments is
Definition
G-actin, which can polymerize to form F-Actin
Term
dynamic instability
Definition
• Themicro filament is polar with most of the growth occurring at the positive end (addition of G-actin-ATP), and most of the dissociation occurring at the negative end (G-actin-ADP)
Term
• Proteins that regulate actin microfilaments
Definition
o Gelsolin
o Tropomodulin
o Myosin
o Tropomyosin
o Profilin
Term
• Microfilaments are involved in a number of cellular processes, including:
Definition
o Phagocytosis
o Muscle contraction
o Contraction of intestinal microvilli
o Amoeboid motility
o Outgrowth of dendrites/axons in neuroblasts
o Mitosis
Term
Function of intermediate filaments
Definition
mechanical/structural support to cells

polymers of different subunits
Term
o Intermediate filaments are polymers of a number of different subunit proteins, which are....
Definition
• Lamin
• Desmin
• Peripherin
• Alpha-Internexin
• Keratin - can be inside the cell (cytokeratin) or external to the cell
• Vimentin
• Neurofilament
(there are also variations of these subunit proteins)
Term
Explain how the variant subunit proteins contribute to the overall stability and lack of charge in intermediate filaments
Definition
• The monomeric protein subunits form dimers
• The dimers form tetramers
• The tetramers form the protofilament
• The protofilament forms the intermediate filament
• The overall intermediate filament structure is stable, and has no polarity
Term
o Genetic keratin (intermediate filament) disorders include
Definition
• Epidermolysis bullosa
• Epidermolytic hyperkeratosis
Term
Epidermolysis bullosa
Definition
 a group of skin blistering diseases
 EB is transmitted as an autosomal dominant trait, caused by mutations in keratin genes expressed in epidermal basal cells
 CAN BE LETHAL
Term
Epidermolytic hyperkeratosis
Definition
 a disease characterized by blistering, scaling, and hyperkeratosis
Term
Formation of Microtubules
Definition
alpha & beta monomers → heterodimers → linear protofilaments → 13 protofilaments → Array → microtubule
Term
• Microtubules are involved in
Definition
maintenance of cell shape and intracellular transport process
includes mitotic alignment of chromosomes and transport of vesicles
Term
Name drugs that bind to microtubules and interfere with either assembly or disassembly....
Definition
• Colchicine
• Vinblastine/Vincristine
• Taxol
• Griseofulvin

o Interference with either assembly or disassembly can interfere with polymerization process and can inevitably kill the cell
Term
• Colchicine
Definition
treatment of gout
 affects cells of the immune system
Term
• Vinblastine/Vincristine
Definition
treatment of certain cancers
 cancers need microtubules for growth (periwinkle)
Term
• Taxol
Definition
treatment of certain cancers
 breast cancer…found a way to synthesize the materials without out cutting down trees
Term
• Griseofulvin
Definition
treatment of fungal infections
Term
• Monomer of flagella
Definition
tubulin
Term
Cilia and flagella are made of...
Definition
Microtubules
Term
axonemes
Definition
• Inner structures of cilia and flagella
consist of nine microtubule doublets around periphery and two microtubule singlets in center
Term
T/F Microtubules of cilia and flagella are dynamic structures undergoing rounds of polymerization-depolymerization
Definition
False they are NOT
Term
• Ciliated cells can be found...
Definition
found in respiratory tract and in female reproductive system (microvilli are not considered to be cilia)
Term
• The only flagellated cell in the human
Definition
sperm
Term
• Dynein
Definition
a motor protein, moves adjacent microtubules, leading to axoneme bending. Motion of dynein is powered by hydrolysis of ATP
Term
• Immotile cilia syndrome
Definition
rare heterogenous genetic disorder characterized by defects in dynein arms and associated structures

Patients are prone to frequent respiratory infections, while male patients (and sometimes female patients) are infertile.

About ½ of all individuals who have immotile cilia syndrome have complete situs inversus
Term
situs inversus
Definition
o left internal organs are on the right part of the body, and right on the left
o Cilia may be involved in polarity and moving things around
Term
• Penrose-Hammeroff Hypothesis
Definition
 Consciousness
 Claims it begins in the microtubules of the brain
 Polymerization generates consciousness
Term
explain Integration of cytoskeleton with membrane
Definition
Alpha and beta spectrin → ANTIPARALLEL dimer → long tetramer → attached to actin filaments (in erythrocytes) → tetramer interacts with membrane integral proteins
Term
Membrane integral proteins that spectrin tetramer interacts with
Definition
o Glycophorin
• RBC and also has become the receptor for malaria
o Sialoglycoprotein
• Nana connection (glycoprotein)
Term
o Hereditary spherocytosis
Definition
a heterogenous group of genetic diseases caused by mutations in the genes coding for spectrin or associated actin-binding proteins
Term
common denominator of spectrin-related disorders
Definition
a reduced amount of spectrin, as free spectrin is subject to proteolytic degradation.
Term
o Hereditary spherocytosis is transmitted as an a_________ trait, with a prevalence of ___________, in NW Europe.
Definition
autosomal dominant trait

1/5000 NW Europe
Term
How does Hereditary spherocytosis lead to hemolytic anemia?
Definition
The disease is manifest as small, round erythrocytes, which are destroyed in the spleen, leading to hemolytic anemia.
• One job of the spleen is to get rid of RBC
• Results in anemia caused by the body
Term
o Muscular dystrophy
Definition
mutations in the dystrophin gene, a relative of spectrin
Term
dystrophin (relative of spectrin)
Definition
forms antiparallel dimers and binds to a set of membrane proteins

localized under the plasma membrane and is involved in the interaction of the cytoskeleton with the extracellular matrix
Term
• Unlike spectrin, dystrophin is found primarily in ........
Definition
Muscle
Term
Dystrophin Gene
Definition
very large, containing 79 exons, and a high rate of mutation
novel mutations

located on the X chromosome

1 in every 4000 males
Term
novel mutations
Definition
started in the offspring….but the tendency for the gene to mutate is transmitted
Term
Duchenne muscular dystrophy (more severe form)
Definition
disorder that usually leads to death at about age 20 on account of cardiac or respiratory failure.
Term
 Becker muscular dystrophy
Definition
a milder form of the disease, allows survival into adulthood
Term
Myosin VII-A
Definition
involved in the movement of intracellular membranes and organelles to the actin cytoskeleton
Term
Mutation in the Myosin VII-A gene
Definition
involved in generating Usher’s Disease
o the most frequent cause of deaf-blindness in humans
o Cause is not clear
Term
• Charot-Marie-Tooth Disease
Definition
progressive neuropathic muscular atrophy

mutation in the nuclear lamina (a fibrillar network inside the cell nucleus, composed of intermediate filaments and membrane associated proteins) can cause
Term
• Neuropathic
Definition
– disease of the nervous system
Term
Hutchinson-Gilford Progeria Syndrome
Definition
mutation in Lamin A (a component of the nuclear lamina) can cause


• Disease of accelerated aging
• Normal intellectual development
• Distinct facial features
• Alopecia
• Joint abnormalities
• Probably result from issue with the nuclear envelope, which is part of the cytoskeleton
Term
• Ciliopathy
Definition
diseases associated with the cilia
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