Mcb Exam 1 - Mcb Diseases

Front 1

anemia

Back 1

low Hb
Macrocytic (RBC too big)
Microcytic (RBC too small)
Anisocytic (uneven RB size)

Front 2

erythrocytosis/polycythemia

Back 2

too many RBCs

Front 3

sickle cell anemia

Back 3

point mutation of Glu to Val
HbA to HbS
HbS aggregates to create sickle-shaped RBC with little flexibility leading to decreased 1/2 life and anemia

Front 4

aplastic anemia

Back 4

too few cells in bone marrow
marrow is mostly adipose with no normal hematopoiesis

Front 5

acute myelogenous leukemia

Back 5

too many cells in bone marrow
marrow has tightly packed myeloblasts with few adipocytes

Front 6

myasthenia gravis

Back 6

neurmuscular disorder
Ab's against Ach receptors on mm cell membrane
weakness in mm

Front 7

osteogenesis imperfecta

Back 7

"brittle bone disease"
substitution mutation for Gly in collagen protein

Front 8

Scurvy

Back 8

vit. C deficiency
hydroxypro can't be synthesized causing a decrease in collagen stability

Front 9

Alzheimer's Disease

Back 9

amyloid B protein aggregates (due to Phe)
form amyloid fibrils that degeneration brain tissue

Front 10

Creutsfeld-Jakob Disease

Back 10

transmissible Spongiform Encephalopathy (TSE)
conversion of cellular prion protein to scrabie prions that aggregate and cause brain degeneration

Front 11

I-Cell Disease

Back 11

Defect in the enzyme in the Golgi that adds M6P to enzymes destined for lysosome
Causes an accumulation of autolysosomes in acinar cells

Front 12

Primary Ciliary Dyskinesia

Back 12

defects in MT's causing immotile cilia
leads to chronic ear infections, bronchitis, as well as other defects

Front 13

Emery-Dreifuss Muscular Dystrophy &
Charcot-Marie-Tooth
(both are laminopathies)

Back 13

because Lamin A in nuclear pores regulates cell fate, effects of mutations are highly tissue specific (as such EM presents in muscles while Charcot presents in neuro)

Front 14

Cholchicine

Back 14

anti-mitotic chemothearpeutic
binds tubulin to prevent MT growth

Front 15

Taxol

Back 15

anti-mitotic chemothearpeutic
depletes tubulin pool by increasing MT growth and stabalizing MT

Front 16

Vinblastine

Back 16

anti-mitotic chemothearpeutic
depolymerizes MT

Front 17

diseases associated with mitochondrial malfunction

Back 17

diseases of aging (type 2 diabetes, parkinsons, atherosclerosis, stroke)
cause an increase in mitochondria

Front 18

Lysosomal Storage Diseases

Back 18

primarily effect children and are recessive
enzyme loss of fxn disorders
cause accumulation of substrate to toxic levels (progressive)
treatment = enzyme replacement or substrate reduction

Front 19

Proteasomal Diseases

Back 19

loss of function in Ub-ligases
Exception: HPV = proteasomal-mediated degradation

Front 20

Zellweger Syndrome

Back 20

defective enzyme transport to perioxisome

Front 21

X-Adrenoleukodystrophy

Back 21

defective long-chain FA uptake by peroxisome

Front 22

Metaplasia

Back 22

abnormal stimuli causes one type of epithelia to convert into another type
often reversible - only becomes cancerous if chronically exposed to stimuli

Front 23

Lipoma

Back 23

benign adipose tumor
3 types: Conventional (white adipose), Fibrolipoma (excess fiberous tissue), Angiolipoma (vascularized)

Front 24

Osteoarthritis

Back 24

damage to articular cartilage
Can't repair because cartilage is avascular and chondrocytes have poor mitotic abilities

Front 25

Osteoporosis

Back 25

imbalance in bone resorption and formation
leads to decrease bone mass and density
results in increased fracture risk, Dowager's Hump, stomach pouch, and decreased height

Front 26

Duchene Muscular Dystrophy

Back 26

mutation in Dystrophin (protein that links thin filaments to lamins in CT via dystroglycan intermediate)
results in muscle contractions with little to no action at the joint