Cigarette smoke directly inactivates ______ by oxidizing essential methionine residues to sulfoxide forms
What inhibits number of proteolytic enzymes including elastases
Two allysine residues can undergo
Copper requiring lysyl oxidase catalyzes the oxidation of some of the lysine to produce ___________ to help strengthen the collagen molecule.
What forms cross-links in elastin catalyzed by lysyl oxidase
A genetic condition characterized by a mutation in gene coding for type IV collagen and leads by kidney disease, hearing loss, and eye abnormalities.
What is required as a coenzyme for prolyl hydroxylase and lysyl hydroxylase in collagen formation.
What type of collagen is found in skin, tendon, vascular ligature, organs, bone, cornea
What type of collagen is found in cartilage and vitreous humor
What type of collagen is found in reticular fibers
What type of collagen is found in the basement membrane or basal lamina
Gly-X-Y repeats can be found in
Skin changes vary from thin and velvety to skin that is either dramatically hyperextensible ("rubber person" syndrome) or easily torn or scarred. Patients develop characteristic "cigarette-paper" scars.
Ehlers-Danlos syndrome (EDS)
Collagen disorder, mitral valve prolapse and hernias, mild to moderate scoliosis, and degenerative arthritis. Commonly associated with loose or hypermobile joints and hyperelastic
Mutations in collagen genes and lysine hydroxylase gene
A disorder of copper transport caused by mutations in the copper-transporting ATPase gene (ATP7A).
X-linked recessive trait, Lysyl oxidase enzyme is affected which leads to a defect in cross-linking
What degrades elastin of alveolar walls and other tissue proteins.
Lobstein Syndrome is a genetic bone disorder a.k.a
Single base substitutions mutations in type 1 collagen genes
Skeletal deformities, fractures and tainted sclera
Dental abnormalities (dentinogenesis imperfecta), the teeth may have a characteristic amber, yellowish brown, or translucent bluish gray color because of a deficiency of dentin that is rich in type I collagen.
Mutations in either the proα1 chain gene or the proα2 chain gene of type I procollagen (the COL1A1 and COL1A2 genes). GLY-X-Y (Can be defect in Gly to any other amino acid)
A severe decrease in bone mass (osteopenia) that makes bones brittle. The appearance of "popcorn-like" deposits of mineral in x-rays of the ends of long bones is an ominous sign. The disorder is frequently associated with blue sclera.
Petechia, echymoses, poor wound healing, poor bone development
Perifollicular hemorrhages in the skin
In advanced cases, swollen, bleeding gums are a classic finding. Alveolar bone resorption results in loss of teeth.
Deficient hydroxylation secondary to ascorbate acid deficiency
Vitamin C deficiency is associated with
Swollen, bleeding gums, joints, loose teeth, pinpoint hemorrhages around hair folicles (petechiae), gums, nails, soreness and stiffness of joints & lower extremities, slow wound healing, anemia, fatigue
Fibrillin-1 directly binds a latent form of _____ keeping it sequestered
What is the co-factor needed for prolyl hydroxylase and lysyl hydroxylase during biosynthesis of collagen catalize by hydroxylation in the lumen of the RER.