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Module 1 Genetics > Diseases > Flashcards

Diseases Flashcards

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1
Q

MI signs

A
  • High LDH1/LDH2 ratio
  • CK-MB > 3%
  • cTnI and cTnT increase
  • myoglobin earliest marker but non-specific for MI
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2
Q

bilary duct obstruction

A
  • caused by gallstones or tumors
  • ALP (most specific)
  • GGT
  • conjugated bilirubin
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3
Q

high ALP indicative of…

A
  • Obstruction of bile ducts
  • Bone disease (specifically ALP-2)
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4
Q

high GGT indicative of…

A
  • Ethanol abuse
  • medical drugs
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5
Q

high serum ALP & GGT indicative of…

A
  • Bile ducts are blocked or irritated
  • NOT related to bone damage
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6
Q

acute pancreatitis

A
  • caused by:
    • heavy alcohol intake
    • gallstones
  • increased levels of serum amylase and serum lipase
    • Lipase/amylase ratio > 2
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7
Q

chronic pancreatitis

A
  • causes:
    • CF
    • hypertriacylglycerolemia
    • years of ethanol abuse
  • same markers as acute
    • lipase/amylase ratio > 2 is characteristic of ethanol abuse
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8
Q

bone disease – Padget disease or bone tumors

A
  • Increased levels of ALP (2) in serum
    • bone injury marker
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9
Q

prostate cancer

A
  • PSA test
    • prostate specific antigen test
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10
Q

hepatocellular cancer

A
  • alpha-fetoprotein (AFP) normally found in fetus
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11
Q

Lesch-Nyhan syndrome

A
  • X-linked recessive disease
  • complete deficiency of HGPRT
    • inability to salvage hypoxanthine or guanine
  • results in:
    • increased PRPP
    • decreased IMP and GMP
    • increased de novo purine synthesis
  • Mental retardation
  • Excessive production of uric acid which leads to gout
  • Self-mutilation
  • Orange crystals in diapers
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12
Q

SCIDS (ADA deficiency)

A
  • autosomal recessive disease
  • Deficiency of adenosine deaminase
    • severe immunodeficiency caused by accumulation of dATP which prevents T and B cell proliferation bc DNA not synthesized
  • Untreated kids die before 2 years of age
  • Extremely large buildups of dATP
    • dATP inhibits ribonucleotide reductase
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13
Q

gout

A
  • hyperuricemia
    • acute arthritic joint inflammation caused by deposition of monosodium urate crystals
  • Allopurinol/febuxostat are non-competitive inhibitors of xanthine oxidase
    • causes excretion of hypoxanthine and xanthine instead of urate
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14
Q

orotic aciduria

A
  • low activites of orotidine phosphate decarboxylase and orotate phosphoribosyltransferase
  • signs:
    • poor growth
    • megaloblastic anemia
    • excretion of large amount of orotate in urine
  • Administration of uridine results in improvement of anemia and decreased excretion of orotate
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15
Q

cholera

A
  • ADP ribosylation of Gsalpha
    • continuously active Gsalpha, leads to increased cAMP levels
  • dysentery (diarrhea)
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16
Q

pertussis

A
  • ADP ribosylation of Gi-alpha
    • continously active Gi-alpha
    • increased production of cAMP in respiratory cells
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17
Q

MERRF

A
  • mitochondrial disorder
  • myoclonic epilepsy with ragged red fibers
  • mutation in tRNA gene
  • affects ATP production
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18
Q

LHON

A
  • mitochondrial disease
  • Leber hereditary optic neuropathy
  • manifests as progressive blindness around 20-30 years
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19
Q

MELAS

A
  • mitochondrial disease
  • mitochondrial encephalopathy, lactic acidosis and stroke-like episodes
  • heteroplasmy
    • used to describe only mt disease
    • means that there is variable expression in offspring
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20
Q

neurofibromatosis (NF1)

A
  • Autosomal dominant disorder
  • mutations in NF-1 gene that codes for neurofibromin protein
  • Neurofibromin codes for a tumor suppresor protein
    • NF1 gene activates RAS GTPase
  • Symptoms:
    • neurofibromas: swellings on skin
    • Lisch nodules in iris of eye
    • Cafe-au-lait spots
    • Increased risk of cancer
  • Allelic heterogeneity
  • Variable expression + high penetrance
  • New mutation hot spot (especially if older father)
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21
Q

Charcot-Marie-Tooth

A
  • autosomal dominant disorder
  • locus heterogeneity
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22
Q

familial hypercholesterolemia

A
  • Autosomal dominant disorder
  • LDL receptor deficiency
  • example of Haplo-insufficiency
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23
Q

Huntington’s disease

A
  • autosomal dominant disorder
  • triple repeat disorder (CAG repeat) in the exon of the gene
    • leads to gluatmine tract
  • Progressive dementia
  • Loss of motor control
  • Gain of function mutation
  • Incomplete penetrance but delayed age of onset
  • Anticipation
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24
Q

myotonic dystrophy

A
  • autosomal dominant disorder
  • triple repeat (CTG) in the 3’ UTR of the DMPK gene
  • Symptoms:
    • cataracts
    • heart conduction defects
    • endocrine changes
    • wasting of muscles
    • myotonia
  • Pleiotropic
  • Anticipation
25
Q

Marfan syndrome

A
  • autosomal dominant disorder
  • mutation in the fibrillin-1 gene
  • symptoms:
    • long limbs
    • hypermobile joints
    • myopia/lens dislocation
    • cardiovascular disease
  • Pleiotropic
  • New mutation hot spot, esp for older fathers
26
Q

osteogenesis imperfecta

A
  • autosomal dominant disorder
  • mutation in collagen gene
  • symptoms:
    • bone fractures
    • blue sclera
  • locus heterogeneity
  • pleiotropic
27
Q

achondroplasia

A
  • autosomal dominant disorder
  • FGFR3 mutation
  • severe stunting of growth
  • gain of function mutation
  • new mutation hot spot, esp in older father
28
Q

acute intermittent porphyria

A
  • autosomal dominant disorder
  • example of haplo-insufficiency
29
Q

Tay-sachs

A
  • autosomal recessive disorder
  • lysosomal disorder
  • HEXA deficiency
    • leads to accumulation of GM2 gangliosides
    • death of neurons in brain and spinal cord
30
Q

cystic fibrosis

A
  • autosomal recessive disorder
  • mutation found in CFTR gene
    • most common is F508 deletion
  • symptoms:
    • RIPAS
  • loss of function mutation
  • allelic heterogeneity
  • compound heterozygotes
31
Q

sickle cell anemia

A
  • autosomal recessive disorder
  • causes Hb to polymerize and distort the RBC
  • Gain of function mutation
  • Heterozygote advantage: less likely to get malaria
32
Q

phenylketonuria (PKD)

A
  • autosomal recessive disorder
  • leads to buildup of phenylalanine in body
    • can lead to severe mental disabilities
  • loss of function mutation
33
Q

congenital deafness

A
  • autosomal recessive disorder
  • loss of function mutation
  • locus heterogeneity
34
Q

SCIDS due to ADA

A
  • autosomal recessive disorder
  • Purine degradation pathway affected
    • ADA deficiency leads to dATP buildup which is toxic to T and B cell proliferation
  • Loss of function mutation
  • locus heterogeneity
35
Q

hemochromatosis

A
  • autosomal recessive disorder
  • HFE gene mutation
  • iron overload disorder
    • more severe in males since females can get rid of iron through menstruation
  • Loss of function mutation
  • allelic heterogeneity
  • incomplete penetrance + variable expression
  • delayed age of onset
36
Q

alkaptonuria

A
  • autosomal recessive disorder
  • loss of function mutation
37
Q

homocystinuria

A
  • autosomal recessive disorder
  • loss of function mutation
38
Q

galactosemia

A
  • autsomal recessive disorder
  • loss of function mutation
39
Q

alpha1 antitrypsin deficiency

A
  • autosomal recessive disorder
  • deficiency of alpha1 antitrypsin deficiency
    • uncontrolled neutrophil elastase actvity destroys lung tissue
  • symptoms:
    • emphysema
    • smoking is a major factor
  • loss of function mutation
40
Q

xeroderma pigmentosum

A
  • autosomal recessive disorder
  • more severe in individuals exposed more frequently to environmental UV radiation
  • variable expression
41
Q

Rett syndrome

A
  • X-linked dominant
  • affects females more often than males
  • males with mutant X gene usually die in utero
42
Q

incontinentia pigmenti

A
  • X-linked dominant
  • symptoms:
    • blisters and rashes in early life
    • retinal detachment
    • intellectual and learning disability
    • marble cake appearance
  • variable expressivity due to X inactivation
43
Q

vitamin D resistant rickets

A
  • x-linked dominant
44
Q

DMD (and less severe Becker)

A
  • x linked recessive
  • mutation on dystrophin gene
  • tends to be lethal before age of 30
    • very low reproductive fitness
  • symptoms
    • muscle weakness
    • pseudohypertrophy of calf muscles
  • new mutation hot spot
45
Q

G6PD deficiency

A
  • x-linked recessive
46
Q

hemophilia A and B

A
  • X-linked recessive
  • symptoms:
    • increased tendency to bleed after minor trauma
  • allelic heterogeneity
47
Q

Red-green color blindness

A
  • x-linked recessive
48
Q

X-linked SCID

A
  • defect in the gamma-chain of the receptor for several different interleukins (IL2RG)
  • locus heterogeneity
49
Q

retinitis pigmentosa

A
  • digenic inheritance
  • mutation in 2 independent genetic loci
    • ROM1 and perpherin
  • symptoms:
    • progressive visual impairment
    • degenerating rods
50
Q

Prader Willi Syndrome

A
  • imprinting
  • Paternal deletion of SNRPN, and therefore, maternal genes of UBE3A expressed twice
  • symptoms:
    • obese kids
    • mental and developmental delay
    • underdeveloped genitalia
    • hypotonia in infancy
  • tested with SNP chip
51
Q

Angelman syndrome

A
  • imprinting
  • deletion of maternal UBE3A gene, so two paternal SNRPN genes
  • symptoms:
    • happy puppet syndrome
    • severe mental retardation
    • seizures
  • tested by SNP chip
52
Q

Fragile X syndrome

A
  • x-linked
  • triple repeat disorder (CGG) in the promoter region of FMR1 gene
    • leads to increased methylation of this region and silencing of FMR1 gene
  • symptoms:
    • temper tantrum
    • intellectual disability
    • prominent ears
    • elongated face
    • maroorchidism
  • anticipation
53
Q

Zellweger syndrome

A
  • peroxisomal disease
  • mutations in genes required for peroxisomal function
54
Q

respiratory distress syndrome

A
  • caused by low L/S ratio in premature babies
    • less alveolar surfactant, can lead to alveoli collapse
    • >2, fetal lung mature
    • <1.5, fetal lung is not mature and higher risk of RDS
55
Q

systemic lupus erythematosus

A
  • Autoantibodies to U1 RNA spliceosome component and histone and topoisomerase
  • symptoms:
    • fatigue, arthritis, fever, skin rashes, kidney problems
56
Q

transmissible spongiform encephalopathy

A
  • prion disease
  • symptoms:
    • dementia
    • loss of coordination
    • death
57
Q

β-Thalessemia

A
  • Many individuals with β-thalassemia have mutations in the β-globin gene that generate additional splice sites within the mRNA
    • frame shifts or premature stop codons are introduced into the mature mRNA
  • results in the production of an abnormal β-globin protein
58
Q

bullous pemphigoid

A
  • caused by antibodies targeting hemidesmosomes
  • leads to blisters
59
Q

Limp Girdle Muscular Dystrophy

A
  • patients the LGMD possess a mutation in the calpain-3 gene that generates a new splice site within the exon
    • results in a shorter mRNA that is missing exon 16 codons
      • produces defective protein

Module 1 Genetics (21 decks)

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