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Cell Biology MBS > Disorders week 1 > Flashcards

Disorders week 1 Flashcards

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1
Q

progeria

  • type of mutation
  • protein involved
  • effect
  • prognosis
A
  • first success of the human genome project
  • point mutation causing and unusable form of lamin A
  • nuclear lamin cannot be formed properly
  • age quickly and only live into their teens
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2
Q

restrictive dermopathy

  • genetic inheritance
  • gene involved
  • effect
A
  • autosomal recessive
  • loss of a gene that is responsible for the cleavage of pre-lamin into mature nuclear lamin
  • skin does not grow and the child suffocates in own skin
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3
Q

Huntington’s disease

  • effect of genetic change
  • genetic change to the gene
  • significance in cell bio
  • determinant of severity
  • determinant of age of onset
A
  • brain cell nuclei show a high level of the protein huntingtin, which is typically found in the cytoplasm
  • the accumulation of this protein disturbs nuclear function
  • defect in gene is caused by an accumulation of an unnatural amount of trinucleotide repeats
  • Relevance in cell bio is that this protein got into an area of the cell that its not supposed to via a mechanism probably having to do with the conformation of the protein (trinucleotide repeat is not an NLS)
  • severity of the disease is correlated with how much huntingtin protein is found in the nuclei
  • age of onset is correlated with the number of trinucleotide repeats
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4
Q

Cancer and exportin 1

A
  • exprotin 1 is responsible to removing tumor suppressing proteins from the nucleus so the cell is able to divide
  • in some cancerous cells, exporting 1 expression is increased, causing there to be a greater removal of tumor suppressing TF’s etc.
  • several small molecule inhibitors of this protein have been developed and are now in stage 2 clinical trials
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5
Q

Tay-Sachs

  • classification
  • gene involved
  • effect
  • build up of what
  • symptoms
A
  • Lysosomal storage disease
  • deficiency in hexosaminidase A
  • disrupts sphingolipid breakdown
  • results in the buildup of GM2 ganglioside
  • causes mental retardation, blindness, and early death
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6
Q

Fabry’s

  • classification
  • gene involved
  • build up of what
  • symptoms
  • treatment
A
  • lysosomal storage disease
  • alpha galactosidase A deficiency
  • results in build up of ceramide in lysosomes
  • rash on the inner lip/tongue and kidney failure
  • treated with enzyme replacement therapy
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7
Q

Gaucher’s disease

  • classification
  • treatment
A
  • lysosomal storage disesae

- also treated with enzyme replacement therapy

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8
Q

niemann-pick

-classification

A

lysosomal storage disease

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9
Q

GM1 gangliosidosis

-calssification

A

-lysosomal storage disease

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10
Q

Asthma/Anaphylaxis

  • molecules which cause symptoms
  • classification of this molecule
A
  • are induced by leukotrienes which cause vasodilation and bronchoconstriction in asthma/anaphylaxis
  • a membrane lipid called and eicosanoid
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11
Q

mycoplasma (walking) pneumonia

  • prevalence
  • cause
  • cellular pathology
  • symptoms
  • perpetuation
A
  • most common form of pneumonia
  • caused by an increase in the fluidity of ciliated cells in the lungs
  • mycoplasma burrows down to the root of the cilia where is feeds on the cholesterol of the plasma membrane
  • causes the cilia not to beat properly
  • results in mucus accumulation in the respiratory tract, creating a favorable environment for the mycoplasma
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12
Q

HIV

  • mechanism of infection
  • cellular consequences of infection with regards to membranes
  • class significance
A
  • takes advantage of the fusogenic nature of plasma membranes
  • HIV has a viral glycoprotein that is recognized by the CD4 receptor on T cells, macrophages, and other cell types
  • when HIV binds, there is rapid fusion of the membrane, spilling HIV nucleic acid into the cell and the viral membrane is incorporated in the cells
  • incorporation of the membrane allows infected cells to fuse with other CD4+ cells, resulting multinucleated cells are incapable of carrying out their immune function
  • glycoproteins allow for entry and those glycoproteins then allow other cells to fuse, demonstrating the fusogenic property of cell membranes
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13
Q

Measles

  • mode of action
  • similar to
  • propogation
  • class significance
A
  • takes advantage of fusogenic properties of phospholipids
  • same as HIV
  • infected cells can fuse with healthy cells, propagating the virus
  • fusion of cell membranes
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14
Q

Toxoplasmosis

  • class of organism
  • found where
  • mode of action
  • class significance
A
  • protozoan found in cat feces
  • causes severe birth defects in unborn children
  • binds to certain cells in the body based on the glycoproteins of those cells
  • shows a clinical significance of glycoproteins
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15
Q

Coccidiosis

  • classification of organism
  • found where
  • mode of action
  • class significance
A
  • protozoan that can live in the water and food source of developing countries
  • binds to glycoproteins of cells in the GI tract
  • the composition of glycoproteins on the cell surface changes as you move down the GI and different strains of this protist latch on to different areas
  • you can tell which type of coccidiosis it is by where the pain is and in turn this can help public health professionals identify the problem
  • another example of clinical glycoprotein problems
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16
Q

Cystic Fibrosis

  • cause, gene involved
  • classification of gene product
  • mechanism
  • cell bio sig
A
  • caused by a mutation in the CFTR protein, which is an ABC ATPase
  • without this protein being functional, Cl- transport across the membrane can not be regulated.
  • cell biology: defects in an ABD ATPase
17
Q 
Tangier disease
-cause and protein involved
-mechanism
-prognosis
-research of this disease has led to
-
A
  • Caused by a defect in ATP Binding cassette 1, another ABC ATPase
  • can not shuttle cholesterol out of the cell due to a defect in this transporter
  • without cholesterol to pick up, HDL is quickly cleared from the plasma causing an HDL deficiency and a build up of cholesterol in the vessel wall
  • results in premature coronary heat disease CHD
  • usually die in 40s or 50s due to CHD
  • study of this disease have identified mechanisms of reverse cholesterol transport and the roles of HDL and LDL in the body
  • this is a disorder caused by a defective ABC ATPase, ATP binding cassette 1
18
Q

P glycoprotein/MDR complex in cancer

A
  • These are the same thing and is are an ABC ATPase that is capable of pumping out toxins
  • to treat cancer we often use toxic drugs, however there is a problem when this protein is overexpressed in cancer cells and the cells are capable of shuttling out all of the drug so it can not take effect
  • another ABC ATPase disorder
19
Q

familial hypercholesterolemia

  • due to
  • genetic inheritance
  • homozygote symptom
  • 3 defects found to cause this
  • these problems all lead to
  • class significance
A
  • due to defective receptor mediated endocytosis
  • autosomal dominant disease
  • homozygotes have extremely elevated cholesterol and die of cardio problems before 30’s
  • seferal defects found: failure of LDL to bind properly to the receptor,failure of receptor to clutter into coated pits, mutant receptor that missing the membrane spanning segment causing abnormal binding and eventual secretion
  • all of these problems result in increased blood cholesterol and lead to arteriosclerosis
  • defective endocytosis
20
Q

rabies, influenza

  • mode of entry
  • cell bio significance
A
  • both use receptor mediated endocytosis to enter the cell

- endocytosis gone wrong

21
Q

streptococcus

A
  • second most common bacterial pathogen in humans

- has a carb coat on cell surface which macrophages do not recognize and therefor can not phagocytose

22
Q

legionnaires disease

  • organism that causes it
  • mechanism of action
  • cell bio sig
A
  • L. pneumophila, a bacterium, is the cause
  • it is phagocytes by the epithelial cells of the respiratory tract
  • once inside the phagosome, it quickly neutralizes the environment so the phagosome can not fuse with the lysosome to form thee phagolysosome
  • then proliferates
  • this is an example of a phagocytosis problem
23
Q

Leishmania and leprosy

  • orgnisms that cause each
  • mechanism of action
  • cell bio sig
A
  • protozoan causes leish and mycobacterium causes pep
  • these organisms thrive in the acidic environment of the phagolysosome and multiply
  • these utilize phagocytosis to their advantage
24
Q

I cell disease

  • cause
  • protein affected
  • mechanism
  • cell bio sig
A
  • accumulation of a variety of polymers in the lysosome and highly elevated secretion of lysosomal enzymes
  • this is caused by a dysfunctional N-acetylglucosamine phosphotransferase, which is responsible for making the phsopho-mannose that acts as a signal for enzymes to target the lysosome
  • studying this lead to the discovery of the lysosomal protein targeting system
  • since there is no signal, the proteins are excreted by default and the lysosomes are free of enzymes
  • this is a problem with protein targeting
25
Q

mucopolysaccharidoses 1-4

A
  • most common of the LSD’s

- lysosomes become engorged with mucopolysaccharides (glycosaminoglycans)

26
Q

zellwegger syndrome and neonatal adrenoleukodystrophy (NALD)

A
  • these two diseases are due to mutations in the SKL signal that sends proteins to the peroxisomes
  • this results in the proteins destined for the peroxisomes never make it there and the peroxisomes do not function properly
27
Q

Infantile hypoglycemia

A

-also caused by an ABC-type ATPase

Cell Biology MBS (22 decks)

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