Block 3 Week 4

Front 1

what effects does insulin have on energy pathways

Back 1

upregulate glycogenesis, inhibits lipolysis/ketogenesis

Front 2

what causes acidosis in DMT1

Back 2

no insulin to inhibit lipolysis/ketogenesis, so generates ketones from TAG, ketones are acidic

Front 3

what is amyloid

Back 3

protein aggregate deposits, secreted by beta cells, but aggregation makes them toxic to beta cells

Front 4

describe effects of aging on beta cells

Back 4

increased age leads to increase beta cell number/mass

Front 5

what is the primary risk factor for DMT2

Back 5

central obesity, which causes increased insulin resistance

Front 6

define gestational diabetes

Back 6

diabetes that is developed during pregnancy

Front 7

complications of DMT2

Back 7

increased BP, microvascular damage (retinopathy), accelerated vascular disease

Front 8

describe pathway of triglyceride absorption

Back 8

intestine package into chylomicrons and secrete into lymph > lipoprotein lipase (LPL) acts to hydrolyze to fatty acids > chylomicron remnants repackaged by liver to VLDL > LPL acts to make LDL > HDL

Front 9

what process is use of triglycerides for energy

Back 9

beta oxidation of FFA in mitochondria

Front 10

what is the function of peroxisomes in beta oxidation

Back 10

peroxisomes shorten very long chain fatty acids so they can enter mitochondria

Front 11

what cholesterol-related parameters is dependent upon fasting

Back 11

LDL = cholesterol -- HDL -- TAG/5

Front 12

describe process of fatty acid release

Back 12

fasting state > glucagon/epi > activates hormone sensitive lipase > hydrolysis of triglyercides

Front 13

describe nitrogen balance

Back 13

intake -- output; positive during growth; negative during injury

Front 14

what are the types of amino acid classes

Back 14

glucogenic, ketogenic, mixture of both

Front 15

what is the function of PAH

Back 15

conversion of phenylalanine to tyrosine

Front 16

classic sign of PKU

Back 16

mousy/musty odor

Front 17

what is the pathogenesis of PKU

Back 17

brain does not have PAH enzyme, high levels of Phe will prevent other amino acids from enter brain, leading to inability to synthesize proteins

Front 18

what is the inheritance pattern of PKU

Back 18

autosomal recessive

Front 19

describe treatment process of PKU

Back 19

screen as fetus > diet low in Phe (because Phe is essential amino acid) for life

Front 20

what is maternal PKU

Back 20

mother has PKU, must switch to low Phe diet before having fetus to prevent developmental disorders

Front 21

classic sign of alkaptonuria

Back 21

standing urine turns black

Front 22

classic sign of maple syrup urine

Back 22

sweet smelling urine

Front 23

pathogenesis of maple syrup urine

Back 23

accumulation of branched keto acids > CNS toxicity, acidosis

Front 24

list three important cellular functions of lipids

Back 24

1. apoptotic signaling molecule, phosphatidylserine; 2. cleave lipids to get signaling molecules, 3. surfactant

Front 25

what is inheritance pattern of lysosomal storage diseases

Back 25

mostly autosomal recessive

Front 26

describe wolmans disease

Back 26

defective cholesteral esterase, leads to accumulation of cholesterol esters and high blood cholesterol

Front 27

describe pathogenesis of i-cell disease

Back 27

enzymes cannot target lysosome, end up in bloodstream

Front 28

what is the treatment for i-cell disease

Back 28

give properly-formed enzymes, but will not pass through BBB

Front 29

what is classic sign for tay-sachs

Back 29

cherry-red spot in retina, or HEXA/HEXB screening

Front 30

what is inheritance pattern of tay-sachs

Back 30

autosomal recessive

Front 31

describe pathogenesis of tay-sachs

Back 31

defective HEXA > accumulation of lipids > neuronal cell death

Front 32

what is inheritance pattern of hunter syndrome

Back 32

x-linked recessive

Front 33

pathogenesis of hunter syndrome

Back 33

defective degradation of GAG

Front 34

what are the limits of treating lysosome storage diseases by administering enzymes

Back 34

enzymes cannot penetrate BBB

Front 35

what is the sugar skeleton nucleotides are built on

Back 35

regulation of PRPP synthesis from ribose sugar

Front 36

describe synthesis of purines from PRPP

Back 36

PRPP converted to IMP > precursor for GMP and AMP; to get dNTP form, must convert to GDP/ADP, then to dGDP/dADP

Front 37

what are the regulatory mechanisms of purine synthesis

Back 37

1. final products inhibit synthesis, 2. PRPP stimulates synthesis

Front 38

how is dNTP synthesis inhibited

Back 38

end products (dNTPs) inhibit enzyme that generates dNDPs from NDPs

Front 39

what products are generated from purine degradation

Back 39

uric acid and urate (insoluble)

Front 40

interitance pattern of lesch-nyhan

Back 40

x-linked recessive

Front 41

pathogenesis of lesch-nyhan

Back 41

inability to salvage purines shunts to degradation > elevated uric acid levels > gout

Front 42

classic sign of lesch-nyhan

Back 42

uric acid crystals are orange

Front 43

symptoms of lesch-nyhan

Back 43

self-mutiliation, neurological defects

Front 44

what type of blood condition exacerbates gout

Back 44

acidosis

Front 45

pathogenesis of gout

Back 45

overproduction of PRPP > excess purines > elevated uric acid > crystallizes/precipitates > gout

Front 46

list typical symptoms of gout

Back 46

1. hyperuricemia, 2. kidney urate precipitation, 3. arthritis (starts in big toe)

Front 47

what is the treatment for gout

Back 47

allopurinol, to inhibit purine degradation; or hydrate to prevent urate precipitation

Front 48

what is pathogenesis of SCID

Back 48

defective degradation of purines, leads to elevated dATPs > inhibits new synthesis of dATP > compromises immune system

Front 49

signs or symptoms of SCID

Back 49

recurrent infections, low WBC count

Front 50

describe pyrimidine synthesis

Back 50

orotate attached to PRPP > UMP > UTP > CTP

Front 51

what is the significance of elevated carbamoyl phosphate

Back 51

will stimulate UMP synthesis/degradation > elevated uracil

Front 52

pathogenesis of hereditary orotic aciduria

Back 52

defective enzyme for UMP synthesis causes elevated levels of orotic acid (intermediate) > anemia, retarded growth

Front 53

treatment for hereditary orotic aciduria

Back 53

give uridine > converted to UMP > will inhibit orotate synthesis and decrease orotate accumulation because have high levels of UMP already

Front 54

describe the roux en-y surgery

Back 54

stomach is shrunk and intestine is shortened and rerouted

Front 55

what pathologies can be quickly resolved from bariatric surgery

Back 55

diabetes, fatty liver

Front 56

what is the hypothesis behind resolution of obesity-related problems

Back 56

imbalance between interins and anti-interins

Front 57

define c-reactive protein

Back 57

inflammatory cytokine

Front 58

two big risk factors for CV disease

Back 58

1. elevated C-reactive protein, 2. elevated TC:HDL ratio: >4 high risk, <4 low risk

Front 59

what is a mono-unsaturated fat

Back 59

one double bond, rest of the chain is filled with hydrogen atoms

Front 60

how are trans-fats created

Back 60

commercialized homogenization process to convert unsaturated fat to saturated fat introduces trans-fat

Front 61

what are the effects of trans-fats

Back 61

1. lowers HDL, 2. increases CV risk

Front 62

what is the primary effect of omega-3 fatty acid

Back 62

lowers triglyceride levels

Front 63

what are primary effects of conjugated linoleic acid

Back 63

1. inhibits fat formation, 2. increases insulin sensitivity, 3. lowers cholesterol