Disorders/diseases Flashcards
(15 cards)
Tay-Sachs
cant break down gangliosides, affects CNS. lysosomal abnormality section
Hurler
cant break down dermatan sulfate, affects skeletal. lysosomal abnormality section
Niemann-Pick
cant break down sphingomyelin, affects CNS and oligodendrocytes. lysosomal abnormality section
Pompe
cant break down glycogen, affects heart. lysosomal abnormality section
epidermolysis bullosa simplex
Mutations in cytokeratins result in fragile skin and
spontaneous blistering
IF disease.
*Kartegener’s syndrome
lacks dynein arms URI probs - celia prob
• Pemphigus
- Autoimmune disease directed against components of desmosome and hemidesmosome –
Epidermal blistering and loss of extracellular fluids
*basement membrane disruption disease
• Alport’s Syndrome
- Inherited defect in structure of Type IV collagen - Symptoms include hematuria (increases
permeability for blood to escape)
*basement membrane disruption disease
what will mutation in cell adhesion genes cause?
cancer/metastisis
Werner’s
–isolated cells undergo fewer div, perhaps bc
individuals have blown thru their given # div faster.
Also have defect in DNA repair (DNA helicase
mutation)
*cell senescence disease
Progeria (Hutchinson-Gilford)
– lamin A mutationdifficult
to form nuclear envelopedifficult to divide
*cell senescence disease
Trisomy 21 (Down’s)
3 copies of chromosome 21, due to non-
disjunction
●CML
(Philadelphia xsome): c able gene gets swapped from xsome 9 to 22, but loses its reg sequence in the swap and thus is now not regulated
microvillus inclusion disease
microvilli form inward instead of outward, have diarrhea
what happens when tight junctions are destroyed
this happens with either bacteria or autoimmune (IBS), cant maintain ion gradient, diarrhea
