Brainscape's Knowledge GenomeTM

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


See full index

SPM > Diseases > Flashcards

Diseases Flashcards

1
Q

Hereditary Spherocytosis

A
  • Description: Disease of the cytoskeleton. Type of hemolytic anemia.
  • Mechanism: Defects in spectrin → loss of membrane stability.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Hutchinson Gilford Progeria Syndrome

A
  • Description: Disease of the nucleus.
  • Mech: Accelerated aging due to lack of synthesis of Lamina A (DNA/RNA synthesis)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Lysosomal Storage Disease (Tay-Sachs, Krabbe, Gaucher)

A
  • Description: Seizures, developmental delay, movement disorders
  • Mech: lack function of one or more lysosomal hydrolase → undigested material accumulates causing swelling → major impact on neuronal cells
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Lufts Disease

A
  • Description: weakness, excessive perspiration, increased basal metabolic rate, high caloric intake without increase in body weight
  • Mechanism: Caused by defect in mitochondrial oxygen utilization → uncoupling of oxidative phosphorylation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Age Related Degenerative Diseases (Parkinson and Alzheimer)

A
  • Description: Disease of the mitochondria.
  • Mech: formation of free radicals (superoxides) that cause DNA damage
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Zellweger Syndrome Spectrum

A
  • Description: Disease of the peroxisome.
  • Mech: Mutated PEX gene → inability to import proteins → impaired B-oxidation → increase in FAs
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Dyskinesia (Kartagener’s Syndrome)

A
  • Description: Disease of the cilia/flagella.
  • Mech: Defect in motility of cilia → infections in mucus lining
  • Note: May cause infertility in male. Think sperm.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Tay-Sachs

A
  • Description: effects mostly nerve cells in the brain and spinal cord.
  • Mech: The lysosomal hydrolase not present is hexosaminidase A and therefore GM2 ganglioside does not get broken down. GM2 ganglioside is important in nerve cells.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Neiman Pick

A
  • Similar to Tay-Sachs
  • Description: This disease mostly impacts neuronal cells but also causes enlargement of liver and spleen.
  • Mech: effects sphingomyelin forming cells, accumulation of sphingomyelin because of lack of sphingomyelinase. The sphingomyelin accumulates in lysosomes and results in cell death.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Gaucher

A
  • Description: most prevalent LSD. Not just nerve cells altered (liver, spleen, white blood cells, kidney, bone marrow).
  • Mech: A deficiency in glucocerebrosidase which results in the accumulation of sphingolipids
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

I-Cell Disease

A
  • Description: Very severe because all lysosomal hydrolases are not localized to the lysosome and instead are secreted outside the cell. Many cell types altered.
  • Mech: problem with the targeting of lysosomal hydrolases to the lysosome. Tagging with mannose-6-phosphate is disrupted.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Tetanus and Botulism

A

Description: prevents fusion of vesicles

Mech: SNARE complex can be cleaved not allowing vesicles to bind to the plasma membrane

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

Receptor Mediated Endocytosis Disease

Example: LDL receptors

A

Description: high cholestrol

Mech: defect in LDL receptors causes high LDL in blood and increased cellular cholesterol synthesis

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

Malignant Hyperthermia

A

Description: Increased temperature due to increased metabolic activity.

Mech: Mutated RyR is sensitive to anesthetic, causing extended opening of RyR, leading to increased hydrolysis of ATP

Treatment: RyR blocker

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

Von Gierck’s Disease

A

Description: Severe hypoglycemia and weakness

Mechanism: deficiency in glucose-6-phosphatase (type 1a) or G6P transporter (type 1b) so glucose cannot be mobilized from liver

Treatment: Manageable through diet

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Pompe’s Disease

A

Description: heart enlargement leading to cardiac arrest by age 2; autosomal inherited

Mechanism: lose alpha(1-4) glucosidase activity in lysosomes leading to increased levels of glycogen accumulation in many tissues

Treatment: no treatment

17
Q

Cori’s Disease

A

Description: hypoglycemia weakness

Mechanism: deficiency in debranching enzyme leads to short outer branches with non-reducing ends

Treatment: glucose infusion

18
Q

Andersen’s Disease

A

Description: liver failure and death

Mechanism: deficiency in branching enzyme leading to long

Treatment: no treatment just death

19
Q

McArdle’s Disease

A

Description: painful cramps because muscle can not utilize glucose

Mechanism: muscle phosphorylase deficiency → cannot degrade glycogen

Treatment: liver is unaffected so mild disease

20
Q

Her’s Disease

A

Description: nothing notable

Mechanism: mild liver phosphorylase deficiency → cannot degrade glycogen

Treatment: complete liver phosphorylase deficiency is lethal

21
Q

Leber’s Hereditary Optic Neuropathy (LHON)

A
  • Description: affects CNS, including optic nerve
  • Mechanism: mutation to complex I à reduced activity to complex I à critical threshold for ATP reached à tissue failed in optic nerve
  • Treatment: none discussed
22
Q

Myoclonic epilepsy and ragged red fibers (MERRF)

A
  • Description: seizure and myopathy
  • Mechanism: Skeletal muscle mitochondria have crystalline arrays in them that perturb morphology and decrease cytochrome C oxidase activity.
  • Treatment: none discussed
23
Q

Mitochondrial encephalopathy lactic acidosis and stroke (MELAS)

A
  • Description: lactic acidosis and stroke
  • Mechanism: Skeletal muscles have ragged red fibers but no loss in cytochrome C oxidase activity.
  • Treatment: none discussed
24
Q

Mutations in cytochrome b of Mitochondria

A
  • Description: exercise intolerance due to decreased activity of complex III
  • Mechanism: G to A transition in the mtDNA, which is likely due to oxidation damage. Replacement of a glycine with a larger amino acid has significant effects on the overall structure.
  • Treatment: none discussed
25
Q

Refsum’s Disease

A
  • Description: build up of long branched FAs which accumulate in the blood and disrupt function of neurons – attack myelin
  • Mechanism: lack peroxisomal hydroxylating enzyme and leads to the accumulation of phytanic acid
  • Treatment: change diet
26
Q

Deficiencies in Acyl -CoA dehydrogenases

A
  • Description: lethargy, edema, cardiac failure. Deficiencies in these enzymes can be fatal. Different enzymes for different length FAs. (VLCAD, LCAD, MCAD, SCAD). Can lead to SIDS when babies sleep at night because cannot metabolize FAs.
  • Mechanism: lack of the enzyme means those affected can’t metabolize FAs
  • Treatment: screening for MCAD for neonates

SPM (17 decks)

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