Diseases Flashcards

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1
Q

Huntington’s disease

A

Trinucleotide CAG repeats (glycine) that lead to the destabilize of the Huntington’s protein which is normally cytoplasmic, but proteolytic cleavage allows it to diffuse into the nucleus

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2
Q

Coccidia

A

Bacterium that recognizes glycoproteins on intestinal epithelial cells and infects and proliferates

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3
Q

Toxoplasmosis

A

A type of coccidia caused by toxoplasma Gondi

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4
Q

Measles

A

Virus that infects cells through the fusogenic properties of membranes leading to aggregation of dysfunctional multinucleated cells

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5
Q

Walking (mycoplasma) pneumonia

A

Lives on the cilia of respiratory epithelial cells and “suck” the cholesterol out which makes them too limp to beat

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6
Q

HIV

A

Virus that infects cells through the fusogenic properties of membranes which leads to aggregates of dysfunctional multinucleated cells

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7
Q

Fabry’s disease

A

Lysosomal storage disease that leads to B-galacsidase deficiency- ERT is effective

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8
Q

Anaphylaxis

A

Caused in part by an overproduction of Leukotrienes which cause vasodilation and bronco constriction

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9
Q

Niemann- Pick

A

Lysosomal storage disease, sphingomyelase deficiency

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10
Q

GM1 gangliosidodid

A

Lysosomal storage disease that leads to a GM1 gangliosidase deficiency

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11
Q

Gaucheries disease

A

Lysosomal storage disease which leads to Glucocerebrosidase deficiency, ERT effective

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12
Q

Tangier’s disease

A

ABC1 mutation which prevents HDL export from the cells leading to build up in immune tissues , orange tonsils, hepatosplenomegaly, heart disease etc

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13
Q

Rabies

A

Enters the cell through RME, fuses with the endosome membrane and dumps its contents into the cell

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14
Q

Influenza

A

Enters the cell through RME, fuses with the early endosome to dump contents into the cell

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15
Q

Familial hypercholesteremia

A

Have defective LDL receptors that interrupt LDL RME and leads to high plasma levels of LDL and early heart disease/ death

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16
Q

Infantile hypoglycemia

A

Has a defective ABC transporter in the sulfonyl urea receptor

17
Q

Legionnaire’s disease

A

Once phagocytosis, it rapidly neutralizes the phagosome and prevents fusion with lysosome

18
Q

Streptococcus

A

Evolved a carbohydrate coat that is not recognized by phagocytes, allowing proliferation

19
Q

Cancer resistance

A

Over expression of ABC transporter pumps anti-proliferation agents out which allows the cancer cell to survive and proliferate

20
Q

Cystic fibrosis

A

Has a defect in the ABC transporter, the CF transmembrane regulator

21
Q

Listeria

A

Enters the cell via RME

22
Q

Leprosy

A

Phagocytosed by phagocytes, but thrive in the acidic environment of the phagosome

23
Q

Leishmaniasis

A

Phagocytosed by the phagocytes, but can thrive in the acidic environment of the phagosomes

24
Q

Tuberculosis

A

Can evade the phagocytes process of the phagocytes

25
Q

Tay-Sachs

A

Lysosomal storage disorder, hexosaminidase deficiency, common in the Jewish population

26
Q

Krabbes

A

LSD

27
Q

Sulfatide lipidases

A

LSD

28
Q

Fucosidosis

A

LCD

29
Q

Zellweger’s syndrome

A

A mutation of the SKL sequence that prevents any proteins made in cytoplasm from getting into the peroxisome which leads to death before the age of 3

30
Q

Neonatal Adrenoleukodystrophy (NALD)

A

A mutation of the SKL sequence that prevents any transport into the peroxisomes, live into teens/20s

31
Q

Mucopolysaccharidoses

A

LSD characterized by a catalytic ally inactive enzyme being made

32
Q

Pompey’ s disease

A

LSD

33
Q

Gangliosidoses

A

LSD

34
Q

Hurler’s

A

LSD

35
Q

Pseudo-Hurler’s

A

LSD

36
Q

Sulfatase Deficiency

A

LSD