Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Cell Biology > Diseases and Disorders- Exam IV > Flashcards

Diseases and Disorders- Exam IV Flashcards

1
Q

Mitochondrial Disorders

A

severity of the disease varies because the distribution of normal to abnormal handed down from mother to child can vary; Causes myopathy, exercise intolerance, and ptosis (drooping of eyelids)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

ER Disorder (3)

A
  1. translation of mRNA repressed and number of proteins carried to the ER decrease
  2. gene transcription of molecular chaperones is induced to promote folding instead of assist in it causing misfolded proteins to increase
  3. altered proteins are removed from ER and decomposed
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Golgi Disorder

A

CDG/CGD (Congential Disorders of Glycosylation) = inability to modify proteins correctly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Lysosomes Disorders (2)

A

storage diseases caused by deficient enzymes, transporter defects, and usually autosomal recessive inheritance

  1. Gaucher Disease: low beta glucosidase and accumulation of glucocerbroside
  2. Tay- Sachs: lack of hexoaminidase A alpha chain; accumulation of ganglioside GM2
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Peroxisomes Disorders

A

X linked adrenoleukodystrophy

Zellweger Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Actin Disorders

A

Congenital Myopathies (contraction of muscle cells)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Kartagener’s Syndrome

A 
Defects in microtubules
Bronchiectasis
Sinusitis
Infertility in males
Situs Inversus:  mirror image of the organs, heart and stomach on the right, liver and spleen on the left
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Microvilli Disorders

A 
Celiac Sprue: blunting of the microvilli
Bacterial infections
Microvillus Inclusion Disorder:
Born with a lack of microvilli
Chronic diarrhea
Metabolic acidosis
Severe dehydration
Can be fatal
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Gramicidin A

A 
Ionophore
D- & L-amino acids
Form ion channel by
Joining 2 molecules  dimer, spans lipid bilayer
Deplete cell of necessary cations
Active against grampositive cocci
Useful topically
Not used systemically because of hemolysis before killing bacteria
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Deandenylation

A

poly A tail chopping prior to storage in AU rich sequences in 3’-UTR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Various sequences and processes affect mRNA half-life

A

AU-rich elements (ARE)- reduced mRNA stability
Secondary structure- increased S
Deadenylation enzymes remove As from poly(A) tail
5’ de-capping
Internal cleavage of mRNA and fragment degradation
tRNA and rRNA are usually stable

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Syncytium

A

A mass of cytoplasm with many nuclei but no internal cell boundaries

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Protofilaments

A

linear row of tubulin fibers

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Colchicine

A

Binds tubulin and prevents its polymerization

Stops mitosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Cadherins

A 
Ca++ binding sites  (Ca2+ dependent)
Homophilic binding pattern
Involve His-Ala-Val
Mediate interactions between the cells' actin cytoskeletons ex. synaptic junction
Deficiency= affects hear rhythm
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Selectins

A

Ca2+ dependent
Heterophilic binding
P-selectin binds WBCs = low affinity causing rolling

17
Q

Integrins

A

Stimulates the cell (neutrophil) to crawl out of the blood vessel (extravasation)
Ca2+ dependent
Composition of integrins: alpha and beta subunits and both can be different types of subunits ex. A1, 2, 3, 4, etc or B1, 2, 3, etc.
Alpha-6/beta-4 integrins found in hemidesmosomes
Bind: Matrix laminins in the basal lamina & Intermediate filaments keratins in the cytoplasm

18
Q

Platelet Adhesion Receptors

A 
a1b1 and a1b2 = collagen
a5b1 = Fibrinogen
a6b1 = laminin
P-selectin
top three are integrins
need to bind to the basement membrane
19
Q

Anoikis

A

when the cell undergoes apoptosis due to detachment

20
Q

Mammary Glands and matrix metalloproteases

A

laminin, 1-integrin, ILK, and LAK = promote breast cell proliferation and survival
the proteases cause cell death when no longer needed

21
Q

Collagen

A

Fibers assembled after cleaving N- & C-propeptides are cleaved  Triple helical domain with Non-helical peptides at both ends (monomer)  Regular assembly of Monomers  Banded fibril
ER plays a major role in modification to prepare collagen for transport

22
Q

Marfan Syndrome

A

Elastin mutation causes loss of elasticity
is a genetic disease; features of someone: tall statue and the length of the arms is longer than the body itself
What makes Marfan very dangerous is that the elasticity of the collagens in important organs will not work (heart, blood vessels) and they will rupture because they cannot expand well
Elastin fibers cause the elasticity (expansion and contraction)

23
Q

Leukocyte adhesion deficiency

A

Genetic disease
Patient unable to synthesize the Beta-2 subunit
WBC lack the entire family of beta-2 receptors needed to bind to endothelial cells
They suffer repeated bacterial infections

24
Q

Non-Ca2+ dependent binding

A

NCAM, ICAM, and L1

25
Q

ICAM

A

Expressed on activated endothelial cells
Ligand for WBC integrins
Heterophilic binding

26
Q

NCAM

A

Expressed by a variety of cell types, including nerve cells

Homophilic interactions

27
Q

L1

A

Neural cell to cell adhesion

Important in developing nerve processes

28
Q

RGD and Fn

A

RGD (Arg-Gly-Asp) is responsible for binding Fn receptor on cell surface
RGD coated petri dish cause cells to adhere to surface
Fibronectin is composed of nearly identical polypeptides attached by disulfide bonds at carboxy terminus

29
Q

Glanzmann disease

A

Genetically deficient in beta-3 (integrin)

These patients bleed excessively

30
Q

Laminin

A 
Cruciform of 
Alpha chain - heparin sulfate
Two smaller Beta chains - bind collagen IV 
promotion of differentiation
neurite extension
cell adhesion
31
Q

Adherins Junctions

A

They hold cardiac muscle cells tightly together as the heart expands and contracts
responsible for contact inhibition
built from cadherins and catenins
Colon cancer oncogene - Mutated protein that normally interacts with catenins
Tumor metastasis result of - Loss of functioning adherens junctions

32
Q

Gap Junctions

A

Rhythmic contraction of the heartbeat

Labor contractions

33
Q

Connexin Mutations & Disease

A

Certain congenital heart defects and

Certain cases of congenital deafness

34
Q

Absence of Desmosomes

A

they connect epithelial cells together and attach to keratin filaments in the cytoplasma
absence = carcinoma (ex. skin)

35
Q

Pemphigus vulgaris

A

Autoimmune disease
Patient develops antibodies against cadherins in desmosomes
AutoAb binds cadherin
Prevents cadherins to bind each other
 Loosening of the adhesion between adjacent epithelial cells
 Blistering main symptom of pemphigus

36
Q

Pemphigoid

A

autoimmune disease where Ab attach the hemidesmosomes
Ab binds to integrins
causes blistering

37
Q

Ca2+ dependent

A

integrins, cadherins, and selectins

Cell Biology (2 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions