(02) Causes of Diseases Flashcards
(Causes of Disease)
- What are genetic diseases and immunologic factors?
- What are physical noxious stimuli, chemical noxes, alimentary causes, and infectious?
- endogenous (intrinsic) causes
- exogenous (extrinsic/acquired) causes
(Genetic Causes of Disease)
- may play a role in what percentage of human disease?
- only mutations in what cells may be passed on?
- mutations of what can be passed on to subsequent generations but not to offspring?
- mutations can occur spontaneously ore be caused by environmental factors
- perpetuation of DNA mutations is relatively rare due to what?
- 70%
- germline
- somatic cells
- cell DNA repair mechanisms
(Types of Mutations)
1-4 what are the four types?
- these all affect what?
- singe gene mutations
- genome mutations (numeric chromosome alteration)
- chromosome mutation (structural chromosomal alteration)
- complex multigenic disorders
- karyogram
(Consequences of point mutations)
- does not alter anything
- single AA change
- makes stop codon
- silent mutation
- missense mutation
- nonsense mutation
(Consequences of single gene missense or nonsense mutations)
- formation of what?
- reduced (or increased) syntehsis of what?
- modification fo what mechanisms?
- abnormal mutations
- normal protein
- posttranslational mechanisms (and transport of proteins out of cell)
(Consequences of single gene missense and nonsense mutation depend on type of affected protein)
(say what occurs)
- enzymes
- membrane receptors and transporters
- non-enzyme proteins
- unusual drug reactions
- storage diseases
- atherosclerosis
- structuarl defect (fibrillin/elastin in Marfan, claagen in Ehler’s Danlos)
- yep
(Enzyme Defect)
- accumulation of what?
2-3 what other two?
- substrate (many storage diseases)
- metabolic block (lack/deficiency of substrate necessary for normal cell function)
- failure to inactivate tissue damaging factors
(Mendelian inheritance pattern of single gene mutations in germline cells)
1-3. what are the three types?
- autosomal dominant trait
- autosomal recessive
- x-chromosome linked
(Autosomal dominant trait)
yeah…
1-2 what are two examples of this?
- polycystic kidney disease in cats
(marked enlargement of both kidneys - inhereited defect in polycystin gene PKD1 or PKD2 - affects middle aged cats)
- polysaccharide stoarge myopathy of horses
(Autosomal recessive trait)
- heterozygous animals are usually clinically healthy
examples: BLAD, lethal white foal syndrome, most lysosomal storage diseases
(lehtal white foal syndrome)
- what kind of trait
- mutation of what?
- cause what?
- autosomal recessive
- endothelin receptor type B gene
- abnormal migration of neural crest cells
(non-pigmented skin and aganglionosis of colon –> functional ileus with meconium retention
can’t move stuff through colon - lack of stimulation from ANS
(X-linked disorders)
- sex linked disorders - mutations on X chromosome
- usually male offsrping affected
- examples?
- hemophilia A (mutation in gene for protein clotting factor VIII synthesis)
feline hypertrophic muscular dystrophy (Duchenne type) - thickening of diaphragm
(Chromosomal Disorders)
- numeric alteration of set of chromosomes
- entire set of chromosomes is altered; have 69 instead of 46
- only the number of individual chromoes affected (trisomy 21)
- aneuploidy; triploid
- yeah…
(Chromosomal disorders)
1-4. structural alteration of chromosome by what four things?
- what chromosomes are usually the ones affected?
- deletion
- inversion
- isochromosome formation
- translocation
- sex chromosomes (often result in intersex)
(Complex multigenic/polygenic disorders)
- caused by interaction of what and what?
- disease only occurs when what occurs?
- multiple genes and environmental factors
- when multiple polymorphisms occur simultaneously and certain environmental factors are present
just read this
excoration/decollement = loss epidermis
laceration/pulpefaction = perforation of skin but still tissue ridges
