Module 3-4 Review Flashcards
I-cell disease biomarker (Dr. R)
Elevated lysosomal enzymes in plasma (inclusion bodies)
I-cell disease symptoms (Dr. R)
Coarse facial features
Developmental delay
Skeletal abnormalities
Restricted joint movement
Enlarged liver and spleen
Gaucher disease affected enzyme (Dr. R)
Glucocerebrosidase
Gaucher disease biomarker (Dr. R)
Elevated chitotriosidase
Gaucher disease symptoms (Dr. R)
Enlarged liver and spleen
Bone pain
Fatigue
Bruising and bleeding
Lung disease
Growth retardation
Fabry disease affected enzyme (Dr. R)
Alpha-galactosidase A
Fabry disease biomarker (Dr. R)
Elevated globotriaosylceramide (ceramide trihexoside)
Tay-Sachs disease affected enzyme (Dr. R)
Hexosaminidase A
Tay-Sachs disease biomarker (Dr. R)
Elevated GM2 ganglioside
Krabbe disease affected enzyme (Dr. R)
Galactocerebrosidase
Krabbe disease symptoms (Dr. R)
Peripheral neuropathy
Destruction of oligodendrocytes
Developmental delay
Optic atrophy
Globoid cells
Niemann-Pick disease biomarker (Dr. R)
Elevated sphingomyelin
Niemann-Pick disease symptoms (Dr. R)
Enlarged liver and spleen
Neurological decline
Ataxia
Interstitial lung disease
Feeding difficulties
Failure to thrive
MLD affected enzyme (Dr. R)
Arylsulfatase A
MLD biomarker (Dr. R)
Elevated sulfatides
MLD symptoms (Dr. R)
Progressive neurological decline
Motor function loss
Behavioral changes
Seizures
Peripheral neuropathy
Hurler syndrome biomarker (Dr. R)
Elevated dermatan sulfate and heparan sulfate
Hurler syndrome symptoms (Dr. R)
Developmental delay
Skeletal abnormalities
Airway obstruction
Corneal clouding
Hepatosplenomegaly
Sphingolipidosis diseases
Tay-Sachs (GM2 Type A)*
Sandhoff (GM2 Type O) Activator deficiency (GM2 Type AB)
Niemann-Pick (A, B, C)*
Gaucher (1, 2, 3)*
Fabry (Classic, Adult)*
Metachromatic leukodystrophy (MLD)*
Krabbe (Globoid leukodystrophy)*
GM1 gangliosidosis (1, 2, 3)
Multiple sulfatase deficiency
Mucopolysaccharidosis syndromes
Hurler*
Scheie
Hurler-Scheie
Hunter*
San Filippo (A, B, C, D)
Morquio (A, B)
Maroteaux-Lamy
Sly
Mucolipidosis diseases
Sialidosis I and II (mucolipidois I)
I-cell (mucolipidois II)*
Psuedo-Hurler-Polydystrophy (mucolipidois III)
Mucolipidois IV
What happens when eIF-2 is phosphorylated
Inactivated
What amino acids have hydroxylation occur
Proline
Lysine
(Vitamin C dependent hydroxylases)
Collagen IV dysfunction diseases
Alport syndrome
Goodpasture syndrome
What causes Alport syndrome
Mutations in C-terminal globular domain of certain collagen IV chains
Symptoms of Alport syndrome
Progressive renal failure
Sensorineural hearing loss
Ocular abnormalities
Examples of adhesive ECM proteins
Integrins
Cadherins
Actin
Key structure of collagen
Glycine-proline-hydroxyproline with hydroxylysine
What 2 cofactors are required for collagen synthesis
Vitamin C
Iron (Fe2+)
What regulates MMP’s and ADAMT’s
Tissue Inhibitors of Matrix Metalloproteinases (TIMP’s)
What causes osteogenesis imperfecta (brittle bone or Lobstein syndrome)
Mutation in COL1A1 and COL1A2 causing collagen type I deficiency
Symptoms of Lobstein syndrome
Excessive bone fractures
Bone deformities
Short height
Basilar invagination
What is Ehlers-Danlos syndrome
Structural weakness in connective tissue due to defective collagen
Symptoms of scurvy
Perifollicular hyperkeratosis
Perifollicular hemorrhage
Coiled fragile corkscrew hair
Palpable purpura
Gingivitis
Swollen and painful joints
Function of gap junctions
Intercellular communication
Main cell to cell adhesion molecule
E-cadherin
What molecule suppression leads to metastasis of many cancers
E-cadherin
What cadherins are in desomosomes
Desmoglein 1
Desmoglein 3
What are gap junctions
2 connexon hemi-channels composed of 6 connexin monomers each
What proteins are associated with tight junctions
Claudins
Occludins
What proteins are associated with hemidesmisomes
Integrins
Keratin
Function of tight junctions
Prevent pericellular transport
Function of adhering junctions
Connects cells to each other
Function of desmosomes
Linking transcellular intermediate filaments
Function of hemidesmosomes
Anchor cells to basal lamina
Maintain integrity of basal lamina
Function of collagen type I
Bone
Skin
Tendons
Ligaments
Fascia
Dentin
Cornea
Organs
Scar tissue (late)
Function of collagen type II
Cartilage
Vitreous humor
Intervertebral discs
Function of collagen type III (reticulin)
Reticular fibers of the skin
Blood vessels
Scar tissue (early)
Fetal through embryogenesis
Function of collagen type IV
Basement membrane
Lens
Disease associated with collagen type I
Osteogenesis imperfecta
Ehlers-Danlos Type I