Diseases Flashcards
1
Q
MI signs
A
- High LDH1/LDH2 ratio
- CK-MB > 3%
- cTnI and cTnT increase
- myoglobin earliest marker but non-specific for MI
2
Q
bilary duct obstruction
A
- caused by gallstones or tumors
- ALP (most specific)
- GGT
- conjugated bilirubin
3
Q
high ALP indicative of…
A
- Obstruction of bile ducts
- Bone disease (specifically ALP-2)
4
Q
high GGT indicative of…
A
- Ethanol abuse
- medical drugs
5
Q
high serum ALP & GGT indicative of…
A
- Bile ducts are blocked or irritated
- NOT related to bone damage
6
Q
acute pancreatitis
A
- caused by:
- heavy alcohol intake
- gallstones
- increased levels of serum amylase and serum lipase
- Lipase/amylase ratio > 2
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
8
Q
bone disease – Padget disease or bone tumors
A
- Increased levels of ALP (2) in serum
- bone injury marker
9
Q
prostate cancer
A
- PSA test
- prostate specific antigen test
10
Q
hepatocellular cancer
A
- alpha-fetoprotein (AFP) normally found in fetus
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
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
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
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
15
Q
cholera
A
- ADP ribosylation of Gsalpha
- continuously active Gsalpha, leads to increased cAMP levels
- dysentery (diarrhea)
16
Q
pertussis
A
- ADP ribosylation of Gi-alpha
- continously active Gi-alpha
- increased production of cAMP in respiratory cells
17
Q
MERRF
A
- mitochondrial disorder
- myoclonic epilepsy with ragged red fibers
- mutation in tRNA gene
- affects ATP production
18
Q
LHON
A
- mitochondrial disease
- Leber hereditary optic neuropathy
- manifests as progressive blindness around 20-30 years
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
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)
21
Q
Charcot-Marie-Tooth
A
- autosomal dominant disorder
- locus heterogeneity
22
Q
familial hypercholesterolemia
A
- Autosomal dominant disorder
- LDL receptor deficiency
- example of Haplo-insufficiency
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
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
Marfan syndrome
* 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
osteogenesis imperfecta
* autosomal dominant disorder
* mutation in collagen gene
* symptoms:
* bone fractures
* blue sclera
* **locus heterogeneity**
* pleiotropic
27
achondroplasia
* autosomal dominant disorder
* FGFR3 mutation
* severe stunting of growth
* **gain of function mutation**
* **new mutation hot spot, esp in older father**
28
acute intermittent porphyria
* autosomal dominant disorder
* **example of haplo-insufficiency**
29
Tay-sachs
* autosomal recessive disorder
* lysosomal disorder
* HEXA deficiency
* leads to accumulation of GM2 gangliosides
* death of neurons in brain and spinal cord
30
cystic fibrosis
* autosomal recessive disorder
* mutation found in CFTR gene
* most common is F508 deletion
* symptoms:
* RIPAS
* loss of function mutation
* **allelic heterogeneity**
* **compound heterozygotes**
31
sickle cell anemia
* autosomal recessive disorder
* causes Hb to polymerize and distort the RBC
* Gain of function mutation
* Heterozygote advantage: less likely to get malaria
32
phenylketonuria (PKD)
* autosomal recessive disorder
* leads to buildup of phenylalanine in body
* can lead to severe mental disabilities
* loss of function mutation
33
congenital deafness
* autosomal recessive disorder
* loss of function mutation
* **locus heterogeneity**
34
SCIDS due to ADA
* 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
hemochromatosis
* 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
alkaptonuria
* autosomal recessive disorder
* loss of function mutation
37
homocystinuria
* autosomal recessive disorder
* loss of function mutation
38
galactosemia
* autsomal recessive disorder
* loss of function mutation
39
alpha1 antitrypsin deficiency
* 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
xeroderma pigmentosum
* autosomal recessive disorder
* more severe in individuals exposed more frequently to environmental UV radiation
* variable expression
41
Rett syndrome
* X-linked dominant
* affects females more often than males
* males with mutant X gene usually die in utero
42
incontinentia pigmenti
* X-linked dominant
* symptoms:
* **b**listers and rashes in early life
* **r**etinal detachment
* **i**ntellectual and learning disability
* **m**arble cake appearance
* variable expressivity due to X inactivation
43
vitamin D resistant rickets
* x-linked dominant
44
DMD (and less severe Becker)
* 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
G6PD deficiency
* x-linked recessive
46
hemophilia A and B
* X-linked recessive
* symptoms:
* increased tendency to bleed after minor trauma
* **allelic heterogeneity**
47
Red-green color blindness
* x-linked recessive
48
X-linked SCID
* defect in the gamma-chain of the receptor for several different interleukins (IL2RG)
* **locus heterogeneity**
49
retinitis pigmentosa
* digenic inheritance
* mutation in 2 independent genetic loci
* ROM1 and perpherin
* symptoms:
* progressive visual impairment
* degenerating rods
50
Prader Willi Syndrome
* 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
Angelman syndrome
* imprinting
* deletion of maternal UBE3A gene, so two paternal SNRPN genes
* symptoms:
* happy puppet syndrome
* severe mental retardation
* seizures
* tested by SNP chip
52
Fragile X syndrome
* 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
Zellweger syndrome
* peroxisomal disease
* mutations in genes required for peroxisomal function
54
respiratory distress syndrome
* 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
systemic lupus erythematosus
* Autoantibodies to U1 RNA spliceosome component and histone and topoisomerase
* symptoms:
* fatigue, arthritis, fever, skin rashes, kidney problems
56
transmissible spongiform encephalopathy
* prion disease
* symptoms:
* dementia
* loss of coordination
* death
57
β-Thalessemia
* 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
bullous pemphigoid
* caused by antibodies targeting **hemidesmosomes**
* leads to blisters
59
Limp Girdle Muscular Dystrophy
* 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
