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50 Cards in this Set

  • Front
  • Back
Bloom's Syndrome
- AR
- DNA helicase deficiency
- leukemia & other malignancies
Werner's Syndrome
- AR
- DNA helicase deficiency
- dwarfism, cataracts, premature aging
Li-Fraumeni Syndrome
- AR
- mutated p53
- tumor development at multiple sites
Xeroderma Pigmentosum
- AR
- defective DNA repair
- malignant skin tumors that metastasize
Sickle-Cell Anemia
- AR
- point mutation to HbS has valine substituted for glutamate at amino position #6
- detected by Southern Blot
- hemoglobin can't bind oxygen
- poor growth, pain, poor immune response
- RFLP used to distinguish genotypes
Thalassemia
- AR
- defective synthesis of one or more Hb chains (α or β)
- anemia
- 25% of mutations are in sequences for correct splicing
Huntington's Disease/Chorea
- AD
- trinucleotide repeat of CAG (>35 copies)
- more repeats = earlier onset
- leads to huntingtin protein accumulation in the nucleus
- involuntary movements (chorea), memory loss, dementia
- Southern Blot detectable
Progeria
- de novo mutation
- defect in nuclear lamins (laminopathy)
- limited growth, advanced aging, alopecia
Restrictive Dermopathy
- AR
- neonatal laminopathy
- tight skin, secondary joint changes, spare or absent eyelashes, abnormal facies
Hereditary Spherocytosis
- AD
- spectrin deficiency, improper membrane-cytoskeletal interaction
- splenomegaly, accumulating RBCs in spleen w/ macrophages, anemia from destroyed RBCs
- spectrin, actin, ankyrin, bands 4.1 and 4.2 in RBC bilayer
HIV/AIDS
- HIV gp120 binds CD4+ T-cells, causing rapid fusion of viral coat w/ host membrane
- viral genome replicates using reverse transcriptase and integrase to insert DNA into host chromosome
- viral glycoprotein inserted on infected cell membrane
Coccidiosis
- protozoan infection Coccidia
- have highly specific recognition proteins that bind to glycoproteins on host
- can determine what species based on location of GI infection
Walking Pneumonia
- Mycoplasma infection on respiratory epithelium
- attach to cilia & extract cholesterol from plasma membrane of cells
- low cholesterol increases membrane fluidity, cilia can't beat
Fabry's Disease
- lysosomal storage disease, XLR
- α-galactosidase A deficiency, ceramide build-up
- anhydrosis (lack of sweating), fatigue, angiokeratoma (small skin lesions), kidney failure
- enzyme replacement therapy
Gaucher's Disease
- most common lysosomal storage disease
- defective β-glucosidase, glucocerebroside accumulation
- enzyme replacement therapy
Cystic Fibrosis
- AR
- mutation in CFTR gene (delta F508), defective chloride transporter cannot move Cl- out of cell, causes Na+ to come into cell, water follows
- results in viscous mucus
- neutrophils recruited to kill pathogens and release enzymes that do further damage
- bronchiectasis, pulmonary hypertension, eventual heart failure, pancreatitis and malabsorption
- allele specific oligo testing detects 25 most common mutations in CFTR gene
Familial Hypercholesterolemia (FH)
- AD, example of dosage effect (homozygous more severe than heterozygous)
- defective receptor-mediated endocytic process
- defect in LDL receptor: fails to bind LDL properly, fails to cluster in coated pits, or fails to anchor in membrane
Tangier Disease
- AR
- defective ABC1 transporter for cholesterol export from cells
- reduced HDL in plasma
- connection to CHD
Legionnaire's Disease
- infection by L. pneumophila
- exploitation of phagocytosis
- pathogen of respiratory tract; neutralizes acidification of endosome and prevents phagolysosome formation
Leishmania
- protozoan parasite
- internalized but not killed in phagolysososme
Leprosy
- caused by mycobacteria
- internalized but not killed in lysosome due to waxy coating
- not destroyed by acidity
I-cell Disease
- lysosomal storage disease
- missing N-acetylglucosamine phosphotransferase, which phosphorylates mannose residues
- enzymes lack mannose 6-phosphate, so can't be targeted to lysosomes to break down polymers
Zellweger Syndrome
- peroxisomal disease that affects kidneys, liver, and brain
- defective peroxisome targeting due to mutated SKL signal sequence
- lack of muscle tone, poor vision, glaucoma
- can't β-oxidize very long chain fatty acids
Neonatal Adrenoleukodystrophy (NALD)
- peroxisome targeting disease
- defect in transport protein that carries very long chain fatty acids to peroxisomes
- accumulation of fatty acids causes myelin degeneration
Kartagener's (Immotile Cilia) Syndrome
- AR
- dyneins are lacking or abnormal
- axoneme present, but no cilia/flagella movement (dyneins power axonemes)
- respiratory infections, infertility
Tau-opathy
- neurodegenerative disease
- Tau is a microtubule binding protein (MAP)
- mutant Tau from altered splicing doesn't bind MT properly
Listeriosis
- infection of gram (+) L. monocytogenes
- once inside an intestinal epithelial cell, it hijacks the actin system to propel itself into neighboring cells (evades immune system)
- food poisoning, meningitis, abortion
- smallpox has similar mechanism
Epidermal Blistering
- defect in keratins (IFs)
- failure of hemidesmosomes to anchor epithelial cells to basal lamina causes separation, fluid entry
Neurofibromatosis I
- AD
- mutation on chromosome 17 for neurofibromin
- cafe au lait spots, neurofibromas, CNS tumors, scoliosis, macrocephaly
Achondroplasia
- AD
- gain of function mutation (ligand-independent activation of FGFR3), chromosome 4
- advanced maternal age
- inhibited bone growth, short extremities, large head, trident hands, saddle nose
Tay-Sachs Disease
- lysosomal storage disease
- AR
- absence of hexosaminidase A leads to build up of GM2 ganglioside in CNS
- mental retardation, blindness, death
Hemophilia
- XLR, affects mostly men
- deficient in factor VIII for clotting blood
- risk for fatal bleeding
Duchenne Muscular Dystrophy
- XLR, affects mostly men
- absence of protein dystrophin leads to muscle weakness and wasting
- creatine kinase in 2/3 female carries ↑
Incontinentia Pigmenti
- XLD, lethal in males
- females have hyperpigmented, marbled appearance on trunk and extremities
Osteogenesis Imperfecta II
- dominant-negative mutation
- new germline mutation in procollagen
- point mutation causes a glycine --> cysteine substitution
- defective assembly of fibers leads to abnormal type I collagen and brittle bones
Phenylketonuria
- AR, loss-of-function mutation
- deficiency in phenylalanine hydroxylase
- can't convert Phe to Tyr
- Phe accumulates in brain, leads to mental retardation, seizures
Trisomy 21 (Down Syndrome)
- strong link with advanced maternal age
- flat facial profile, upward-slanting eyes, small ears, nose, and mouth, congenital heart disease
- 50% have single palmar crease, 50% have clinodactyly (bent 5th finger)
- short stature, microcephaly, moderate mental retardation
- life expectancy 50 years
Trisomy 18 (Edwards Syndrome)
- strong link with advanced maternal age
- microcephaly, micrognathia (undersized jaw), small mouth, congenital heart disease, overlapping fingers, low-set ears, prominent occiput, rocker bottom feet
- most (95%) die within one year of life
Trisomy 13 (Patau Syndrome)
- strong link with advanced maternal age
- oral-facial clefts, microphthalmia, microcephaly, cardiac anomalies, polydactyly, CNS malformations
- most (95%) die within 6 months of life
- 80% are straight trisomy, translocations involved in others
Cri-du-Chat Syndrome
- deletion of terminal part of chromosome 5 (85% de novo mutation)
- cat-like cry, mental retardation, failure to thrive
- detected w/ FISH
Turner Syndrome
- 45, X (mosaicism possible)
- 1/3 babies detected at birth w/ webbed neck, puffy hands & feet, low-set ears, and congenital heart disease
- 1/3 detected as children due to short stature
- 1/3 detected when puberty delayed
Klinefelter Syndrome
- 47, XXY
- most often from mom w/ advanced age
- relatively tall with long legs, small testes, enlarged mammary glands, gynecomastia
Fragile X Syndrome
- XLD
- unstable trinucleotide repeat CGG at Xq27 (>200 repeats)
- derived from premutation or maternally derived full mutation
- dementia, hypotonia
Myotonic Dystrophy
- AD w/ anticipation
- unstable trinucleotide repeat GCT (>50 repeats)
- wasting of muscles, cardiac arrhythmias, cataracts, temporal balding
Leber's Hereditary Optic Neuropathy
- homoplasmic point mutation in mtDNA
- classical maternal inheritance
- sudden bilateral, irreversible loss of vision due to optic nerve death
MELAS
- heteroplasmic point mutation
- classical maternal inheritance with high variability of expression
- stroke-like episodes, migraines, seizures, dementia, diabetes
Pearson Syndrome
- de novo deletion mutation of 1/3 mtDNA
- anemia, pancreatic fibrosis, death before age 3 usually
Creutzfeld-Jakob Disease
- a.k.a. Mad Cow Disease
- single AA mutation switches α-helical form of protein to β-aggregated form
- inherited missense mutation or ingest "bad protein" that influences other proteins
- age 29 average onset --> depression, dementia, other psych symptoms
Scurvy
- ascorbic acid (vitC) deficiency
- necessary cofactor for prolyl hydroxylase activity
- deficiency yields collagen fibers with low hydroxyproline content (low melting point)
- fragile tissues and organs
- bleeding gums, pinpoint hemorrhages, fragile blood vessels
Ehlers-Danlos Syndrome
- defective collagen synthesis due to lack of an enzyme
- hyperelastic joints and skin hyperextension