Clinical Correlates- Test 1 Flashcards
What results in mutations of the proteins of the nuclear membranes of pore complexes?
striated muscle disorders, partial lipodystrophy syndromes, peripheral neuropathies, and progeroid syndromes
What are drugs that affect microtubules and what are they normally used for?
taxol, colcemid/colchicine, and vincristine/vinblastine. Normally used in cancer chemotherapy
What produces high blood cholesterol levels? what can this lead to?
A missing or defective LDL receptor. This leads to coronary arterial disease.
What causes I cell disease?
a missing or defective Golgi enzyme
What causes Tay-Sachs disease?
missing or defective hexosaminidase A
What causes Fabry?
missing or defective alpha-galactosidase A
What causes Gaucher?
missing or defective B-glucocerebrosidase
What causes Niemann-Pick?
missing or defective sphingomyelinase
What causes Zellweger Syndrome?
mutated receptor for the peroxisome targeting signal
What are the manifestations of Zellweger Syndrome?
accumulations of very long-chain and branched chain fatty acids in tissues and cells which impairs organ function
What is Steatosis?
abnormal fat accumulation in liver cells due to obesity, metabolic syndrome, alcohol consumption, etc.
What causes hereditary spherocytosis?
abnormal arrangement of the internal cytoskeleton due to a missing of abnormal spectrin or ankyrin molecule. RBCs are round and abnormally fragile
What is Anisocytosis?
variability in cell size
What is polycrhomasia?
bluish tint to the cell due to a few ribosomes in young RBCs
What is characteristic of the cells in iron deficiency anemia?
hypochromic, microcytic anemia
