Diseases Flashcards
Huntington’s disease
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
Coccidia
Bacterium that recognizes glycoproteins on intestinal epithelial cells and infects and proliferates
Toxoplasmosis
A type of coccidia caused by toxoplasma Gondi
Measles
Virus that infects cells through the fusogenic properties of membranes leading to aggregation of dysfunctional multinucleated cells
Walking (mycoplasma) pneumonia
Lives on the cilia of respiratory epithelial cells and “suck” the cholesterol out which makes them too limp to beat
HIV
Virus that infects cells through the fusogenic properties of membranes which leads to aggregates of dysfunctional multinucleated cells
Fabry’s disease
Lysosomal storage disease that leads to B-galacsidase deficiency- ERT is effective
Anaphylaxis
Caused in part by an overproduction of Leukotrienes which cause vasodilation and bronco constriction
Niemann- Pick
Lysosomal storage disease, sphingomyelase deficiency
GM1 gangliosidodid
Lysosomal storage disease that leads to a GM1 gangliosidase deficiency
Gaucheries disease
Lysosomal storage disease which leads to Glucocerebrosidase deficiency, ERT effective
Tangier’s disease
ABC1 mutation which prevents HDL export from the cells leading to build up in immune tissues , orange tonsils, hepatosplenomegaly, heart disease etc
Rabies
Enters the cell through RME, fuses with the endosome membrane and dumps its contents into the cell
Influenza
Enters the cell through RME, fuses with the early endosome to dump contents into the cell
Familial hypercholesteremia
Have defective LDL receptors that interrupt LDL RME and leads to high plasma levels of LDL and early heart disease/ death
Infantile hypoglycemia
Has a defective ABC transporter in the sulfonyl urea receptor
Legionnaire’s disease
Once phagocytosis, it rapidly neutralizes the phagosome and prevents fusion with lysosome
Streptococcus
Evolved a carbohydrate coat that is not recognized by phagocytes, allowing proliferation
Cancer resistance
Over expression of ABC transporter pumps anti-proliferation agents out which allows the cancer cell to survive and proliferate
Cystic fibrosis
Has a defect in the ABC transporter, the CF transmembrane regulator
Listeria
Enters the cell via RME
Leprosy
Phagocytosed by phagocytes, but thrive in the acidic environment of the phagosome
Leishmaniasis
Phagocytosed by the phagocytes, but can thrive in the acidic environment of the phagosomes
Tuberculosis
Can evade the phagocytes process of the phagocytes
Tay-Sachs
Lysosomal storage disorder, hexosaminidase deficiency, common in the Jewish population
Krabbes
LSD
Sulfatide lipidases
LSD
Fucosidosis
LCD
Zellweger’s syndrome
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
Neonatal Adrenoleukodystrophy (NALD)
A mutation of the SKL sequence that prevents any transport into the peroxisomes, live into teens/20s
Mucopolysaccharidoses
LSD characterized by a catalytic ally inactive enzyme being made
Pompey’ s disease
LSD
Gangliosidoses
LSD
Hurler’s
LSD
Pseudo-Hurler’s
LSD
Sulfatase Deficiency
LSD
