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Pathology > MENDELIAN DISORDERS > Flashcards

MENDELIAN DISORDERS Flashcards

0
Q

auto rec means…

A

enzyme

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1
Q

auto dom disorder means…

A
  1. structural or scaffolding protein= non-enzymatic

2. receptor–> metabolic pathway receptor

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2
Q

auto dom mendelian disorders

A
  1. Marfans syndrome
  2. Ehler Danlos Syndrome
  3. Familial Hypercholesterolemia
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3
Q

auto rec mendelian disorders

A
  1. Phenylkeotnuria= PKU
  2. Galactosemia
  3. Lysosomal storage diseases
  4. Glycogen Storage diseases
  5. Alkaptonuria
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4
Q

What are the lysosomal storage diseases?

A
  1. Tay Sachs
  2. Neimann-Pick Disease
  3. Gaucher
  4. MPS= Muco-polsaccharidoses
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5
Q

What are the glycogen storage diseases?

A
  1. hepatic–> Von Gierke
  2. myopathic–> McArdle disease
  3. Pompe disease
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6
Q

What are the 2 categories of non-classical inheritance?

A
  1. X linked
  2. Mitochondrial
  3. genomic imprinting
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7
Q

What is the non classical x linked disease?

A

FRAGILE X SYNDROME

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8
Q

What is the non classical mitochondrial linked disorder?

A

LHON= Leber hereditary Optic Neuropathy

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9
Q

What is the non classical genomic imprinting disorders?

A
  1. Prade-Willis syndrome

2. Angelman syndrome

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10
Q

Where is the mutation for Marfans syndrome?

A

fibrillin 1 gene

fibrillin is found in

  1. skeleton
  2. EYE
  3. CV
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11
Q

What is the mutation in Ehler-Danlos Syndrome

A

COL3A1= type 3 collagen gene

type 3 collagen found in

  1. large arteries
  2. bowel walls
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12
Q

What is the mutation in familial hypercholesterolemia

A

LDL receptor

live cant recognize if cholesterol is present or not so things chol. is low

  • increase in HMG CoA reductase–> increased chol.
  • increase IDL
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13
Q

What is the dysfunction is Tay Sachs?

A

mutation is 3 gene loci that code for 3 polypeptides that degrade GM2 gangliosides

HEXOSAMINIDASE A

get lysosomes filled with ganglioside= foamy neurons

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14
Q

What is the mutation in Neimann-Pick?

A

A and B= mutation in sphingomyelinase

get accumulation of sphingomyelin in phagocytic cells–> foamy cytoplasm

MASSIVE SPLEEN

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15
Q

What is the mutation in Gauchers Disease

A

mutation in glucocerebrosidase

get accumulation of glucocerebrosides–> distended lysosomes in phagocytic cells

HEPATO-SPLENO-MEGALY
SKELETAL LESIONS
NO BRAIN INVOLVEMENT

16
Q

What is the mutated enzyme in Von Gierkes?

A

glucose-6-phosphatase, which converts,

glucose-6-phosphate–> Glucose + Pi

hepatic–> enlarged liver and hypo-glycemia (since your not producing glucose)

17
Q

What is the mutated enzyme in McArdles disease?

A

phosphorylase, which converts

glycogen–> glucose-1-phosphate

myopathic= m weakness

18
Q

What is the mutated enzyme in Pompe disease?

A

acid maltase, which converts

glycogen–> Glucose + Pi

CARDIO-MEGALY

19
Q

What is the issue in MPS= mucopolysaccharidoses?

A

deficiency in degradation of mucopolysaccharides

impaired degradation of heparan sulfate–> mental deficiencies
impaired degradation of dermata, chondroitin and keratan sulfate–> mesenchymal abnormalities

ORGANOMEGALY

- coarse facial features
- short stature
- skeletal deformities
- valvular lesions
- corneal clouding
20
Q

What enzyme is deficient in alkaptonuria?

A

HGO= homogentisic acid oxidase or homogentisate 1,2- dioxygenase, which coverts

HA (homogentisic acid)–> maleyl-aceto-acetic acid

HA is oxidized to benzo-quinones–> produce black pigment

1. OCHRONOSIS= blue black pigment in ears, eyes & sclera
2. black urine if given time to oxidize
3. heart--> deterioration of cardiac valves
4. joints--> degenerative arthropathy in 30s
21
Q

What enzyme is deficient in fragile X syndrom?

A

FMR 1 gene= familial mental retardation

in oogenesis–> get amplification (tri-nucleotide repeat) on X chromosome in UTR region–> hypermethylation
which spreads to the promoter region and transcriptionally silences FMR 1

  1. facial dysmorphism= large mandible and ears
  2. macro-orchidism (big balls) in males
22
Q

What enzyme is deficient in LHON?

A

ND in complex 1 of oxidative phosphorylation
issue here in the mtDNA you inherit from mom due to issue in ovum

PROGRESSIVE BILATERAL LOSS OF CENTRAL VISION BT 15-35 YO

23
Q

what is the issue in Prade-Willis syndrome?

A

on chromosome 15, fathers locus got deleted or mother donated 2 copies of chromosome 15

  1. mental retardation
  2. short stature
  3. hypotonia
  4. obesity from hyperphagia
  5. HYPOgonadism
24
Q

What is the issue in Angelman syndrome

A

the locus mom was suppose to donate is deleted and dads locus is silenced like normal

  1. mental retardation
  2. ataxic gait (profound)
  3. inappropriate laughter–> happy puppet syndrome
25
Q

What is the deficiency in PKU= phenylketonuria

A

lack of phenylalanine hydroxylase, which converts

phenylalanine + O2–> tyrosine + H2O–> melanin

  1. hypopigmentation
  2. depression
  3. phenylalanine acts as neurotoxin–> severe mental retardation
    • -> motor problems
26
Q

What is the deficiency in galactosemia?

A

mutation in GALT= galactose-1-phosphate uridyl transferase

HEPATOMEGALY
CATARACTS IN 1ST FEW WEEKS OF LIFE

27
Q

What is the issue in Niemann-Pick C?

A

NPC gene–> encodes for protein involved in cholesterol trafficking

  1. ataxia
  2. supranuclear palsy
  3. psychomotor regression

Pathology (6 decks)

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