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37 Cards in this Set
- Front
- Back
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what is the most common type of DNA variation?
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single nucleotide polymorphism
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what is expressivity/
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akin to severity
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what is penetrance
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whether the person has the gene or not
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which has more uniform expression, dom or recess?
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recessive
dominat is more likely to be modified by expressivity and reduced penetrance |
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what is the significance of mannose-6-phosphate?
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it is a modification of lysosome enzymes that happens in the ER; the golgi recognizes the mannost-6-phosphate and it then pinches off to fuse with lysosomes
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which LSDs are NOT autosomal recessive, and which are?
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Hunter and Fabry are X-linked, all the rest are autosomal recessive
HUNT the FABLED X-MONSTER |
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How are the LSD's grouped?
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according to the macromolecule undergoing degradation
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what kind of disorders are mucopolysaccharideoses?
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progressive
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what do all MPS disorders share?
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organomegaly, multisystem, abnormal facies (expressions), joint stiffness/deformity & mental retardation
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which syndrome arises with a deficient activity of alpha-L-iduronidase?
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Hurler syndrome
(HURL THE ALPH) |
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Hurler disease: Onset? Death? What's in the pee?
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6-8 months; death <10years; heparan sulfate & dermatan
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what are some common features between Hunter and Hurler?
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mental retard, coarse facial features, small people
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what is different between Hurler and HUnter?
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Hunter's is less severe and NO corneal clouding
HUNTERS HAVE TO SEE |
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what is deficient in Hunter syndrome?
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iduronate sulfatase
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what is the sphingolipisodeses of note?
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Niemann-Pick
AT NEIMANN-MARCUS YOU BUY A LOT OF SPINGS |
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which type of neimann pick is caused by a deficiency of sphinfomyelinase?
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Type I (A & B)
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which N-P is cause by dec. in cholesterol esterification
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Type II (C & D)
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What is severe infantile N-P? When present? Common features? WHat do 50% have? When die?
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type A; first weeks of life; severe NEUROLOGICAL imparment, fail to thrive, hepatosplenomegaly; MACULAR CHERRY RED spot; death by 3/4 years
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what is type B N-P??
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chronic, visceral
NO CNS involvement present in infancy/childhood, survive until adulthood |
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what is type C N-P? what gene is affected and what does it do?
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is common, NPC-1 is affected which is envolved in extracellular CHOLESTEROL TRAFFICKING
C = cholesterol |
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how does the CLASSIC form of Type C N-P present?
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ataxia, 2-4 year old, seizures, MENTAL DETERIORATION, supranuclear paulsy
DEATH by 5-15 years |
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what are the types of gangliosidoses and how are they divided?
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GM1 (type I & II) and GM2
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which enzyme is deficient in GM1 and what dose it do?
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beta-galactosidase, causes accumulation of ganglioside in neurons
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when does GM1 present and what happens and what do 50% have?
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well it's called infantile
progressive neurologic deterioration and seizures and death before age 2 Macular cherry red spot |
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when does GM1 type II present?
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juvenile, 1 year
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what are the GM2 gangliosidases? there are 3 mentioned
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tay-sachs, sandhoffs and GM2 activator deficiency gangliosidosis
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what are the specific defects in T-sachs, sandhoffs and GM2 activator def?
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1. alpha-subunit of heaminidase A
T-"A" IS FOR ALPHA 2. beta subunit of hexminidase A B IS FOR BEACH 3. GM2 activator |
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what is the classic phenotype of the gangliodiosidosis
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born normal, rapidly progressive neurodegenerative (Dementia/blindness)
MACULAR CHERRY RED SPOT |
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which tissues dominate the clinical picture in the gangliosidosis?
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neurons and retina dominate (but many tissues have)
lysosomes contain whorled material |
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what are the 2 types of sulfatidoses?
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metachromatic leukoystrophy and multiple sulfatase dystrophy
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which enzyme is deficient in metachromatic leukodystrophy (a type of sulfatidoses)?
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arylsulfatase A (helps make galactocerebroside which is found in myelin membranes)
SAP or saposin B are required by arylsulfatase A FISH BREATH AIR |
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what is the classic phenotype of metachromatic leukodystrophy?
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the late infantile form: onset at 2 years
hypotonia, muscle weatkness, metal deterioration, peripheral nerve involved, death w/i 5 years (metachromatic = fish tank rocks....LIMP FISH) |
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which disorder has a herringbone pattern of cytoplasmic inclusions?
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classic metachromatic leukodystrophy
HERRINGS EATING FISH |
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what is the most common LSD and what KIND is it??
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gaucher disease
it's a cerebroside |
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which enzyme is deficient in Gaucher, where does it accumulate and what does it cause?
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glucocerebrosidase, needed to catabolize the breakdown product of leukocytes and RBC membranes
Monophages/macrophages end up with accumulation of glucocerebrosidase and look like crumpled paper in cytoplasm with eccentric nucleus (stains with PAS) |
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what is the most common type of Gaucher disease?
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chronic non-neutonopathic
leads to bone disease, hepatosplenomegaly and LACKS CNS INVOLVEMENT (so no glucocerebroside in brain) ADULT onset |
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what is type 2 Gaucher disease?
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acute neuronopathic, infantile onset
NO glucocerebrosidase NO BONE INVOLVEMENT hepatomegaly, big spleen, CNS? YES |
