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SMP - MCP Exam 1 > Organelle Diseases > Flashcards

Flashcards in Organelle Diseases Deck (40):
1

What organelle is progeria due to?

Nuclear envelop

2

What organelle is dyskeratosis congenita due to?

Ribosome

3

Describe dyskeratosis congenita

Mutation of the dyskerin gene which is involved in ribosome biogenesis: abnormal skin pigmentation w/ tan-to-gray hyperpigmented or hypopigmented patches in a mottled or reticulated pattern

4

Describe progeria

Premature aging in children leading to death linked to a mutation in the lamin A gene (messes up one of the parts of cell division)

5

What organelle is cystic fibrosis due to?

ER

6

Describe cystic fibrosis

Misfolding of the cystic fibrosis transmembrane regulator protein which is trapped in the ER and then degraded: deficit of this protein causes thick mucous in lungs

7

What organelle is congenital disorder of glycosylation syndrome due to?

Golgi

8

What was congenital disorder of glycosylation syndrome previously called?

Carbohydrate-deficient glycoprotein syndrome

9

Describe congenital disorder of glycosylation syndrome

Rare defect of metabolism where glycosylation of tissue proteins is deficient (inability to charge mannose to prepare it for glycosylation) with causes cerebellar and cerebral atrophy and psychomotor retardation

Symptoms: failure to thrive and mental retardation

10

What are lysosomal storage diseases?

50+ rare metabolic inherited diseases resulting from defects in lysosomal function

11

What organelle is peroxisomal disease due to?

Peroxisome

12

Describe peroxisomal disease

Neurological diseases that results from defects in biogenesis of peroxisomes or in enzymes in them

13

What organelle is adrenoleukodystrophy (ALD) due to?

Peroxisome

14

Describe adrenoleukodystrophy (ALD)

Disorder of peroxisomal fatty acid beta oxidation that results in the accumulation of very long fatty acids in tissues

15

Describe cerebral adrenoleukodystrophy (ALD)

Progressive demyelination leading to vegetative state and death

16

What organelle is mitochondrial myopathy due to?

Mitochondria

17

Describe mitochondrial myopathy

Muscles exhibit "ragged red" fibers that contain accumulations of glycogen and neutral lipids
Symptoms: low energy, free radical production and lactic acidosis that result in muscle weakness, exercise intolerance, trouble with balance and coordination and seizures

18

What organelle is albinism due to?

Cytoplasmic inclusions: Melanosomes

19

Describe albinism

Lack of tyrokinase activity preventing melanin synthesis (pink eyes because reflect blood from back of iris)

20

What organelle is Von Gierke disease due to?

Cytoplasmic inclusions: Glycogen

21

Describe Von Gierke disease

Impaired breakdown of glycogen causes an enlargement of the liver

22

What is another name for Von Gierke disease

Type 1 glycogen storage disease

23

What organelle are lipid storage disease due to?

Cytoplasmic inclusions: lipids

24

Describe lipid storage diseases

Inherited metabolic disorders where harmful amounts of lipids accumulate in cells and tissues which can cause permanent damage especially in the brain, PNS, liver, spleen, and bone marrow

25

What is another name for the lipid storage diseases

Lipidoses

26

What organelle is nemaline rod myopathy due to?

Cytoskeleton: microfilaments

27

Describe nemaline rod myopathy

Congenital neuromuscular disorder that causes muscle weakness and results from mutations in the ACT1 gene which codes for alpha-actin
You can find rod-like inclusions (nemaline bodies) in the sarcoplasm of skeletal muscle fibers

28

What organelle is ciliary dyskinesia due to?

Cytoskeleton: microtubules

29

Describe the 4 types of ciliary dyskinesias

1. Absent inner dynein arms
2. Radial spoke defect
3. Absent central pair
4. Absent inner and outer dynein arms

30

What do ciliary dyskinesias predisposes patients for? More common in what type of pts?

Ineffective ciliary mvt impairs mucociliary clearance: recurrent chest infections and these are more common in smokers

31

What organelle is epidermolysis bullosa simplex due to?

Cytoskeleton: intermediate filaments

32

Describe epidermolysis bullosa simplex

Increasing blistering related to friction (shoes/socks) resulting from an autosomal dominantly inherited defect in keratins 5 and 14

33

What cell junction is celiac disease due to?

Zonula occludens

34

Describe celiac disease

Damages the lining of the small intestine and prevents it from absorbing parts
of food that are important for staying healthy. Can be caused by Zonulin, a zonula occludens toxin
secreted by the pathogen Vibrio cholera. Zonulin breaks down tight junctions, increasing their
permeability between cells of the wall of the digestive tract.

35

What cell junction is bacteriodes fragilis due to?

Zonula adherens

36

Describe bacteriodes fragilis

Bacterium produces a toxin (B. fragilis enterotoxin) that alters zonula
adherens function, so compounds leak between cells. Associated with diarrheal diseases.

37

What cell junction is arrhythmogenic right ventricular cardiomyopathy/dysplasia due to?

Desmosomes

38

Describe arrhythmogenic right ventricular cardiomyopathy/dysplasia

Heart muscle disease
characterized by life-threatening arrhythmias and increased risk of sudden heart failure. Caused by
mutations in genes encoding desmosomal proteins.

39

What cell junction is Charcot-Marie-Tooth X disease (CMTX) due to?

Gap junctions

40

Describe Charcot-Marie-Tooth X disease (CMTX)

Point mutation in the connexin-32 gene
on the X-chromosome. The connexin-32 protein is expressed in Schwann cells that wrap around
nerve axons, so CMTX affects components of the nervous system, which in turn affects muscle
function. A typical feature includes weakness of the foot and lower leg muscles. Foot deformities,
such as high arches, are common due to weakness of the small muscles in the feet.