Biochemistry I - Fibrous Proteins

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1.

biosynthesis of elastin

-soluble tropoelastin secreted in ECM -assemble on cellsurface infoldings via glycoprotein fibrillin -tropoelastin molecules become cross-linkes fits in the center ring structure stabilizer rigidity cross-linkes between lysines via lysyl oxidase: AKA desmosine link translocated to Golgi packaged into vesicles secreted out of the cell formation of disulfide bonds at the Cterminal of pro-alpha chains left proline and glycine hyper extensible skin hyper mobile joints ocular fragility tall stature ectopia lentis mitral valve prolapse aortic root dilation aortic dissection brittle bones, blue sclera, hearing loss, dental deformity collagen and elastin

16.

what degrades collagen?

matrix metalloproteinases and collagenases -cleaved by N and C procollagen --peptidases -collagen fibrils are formed -cross-linked via lysyl oxidase prolines and lysines are hydroxylated scurvy cirrhosis of liver homosygotes: pulmonary emphysema a plasma protein that inhibits neutrophil elastase in alvoeli connective tissue protein the gives elasticity, recoil, and strength an autosomal dominant connective tissue disorder mutation in structural alpha 1 or alpha 2 chains in type 1 collagen 3 pro-alpha chains helically wrapped and held together by Hbonds Gly-X-Y X = proline Y = hydroxyproline or hydroxylysine 3 alpha helix chains in a right handed superhelix elastin is not glycosylated and has no hydroxylysine mutation for collagen type 3 mutation: blood vessel GAG turns into AAG (glu--> lys)

17.

what happens to collagen in the ECM?

2. 3.

function of glycine in collagen function of proline in collagen

18.

what happens to the nascent pre-pro-alpha chains in the ER? what happens when there is a vitamin C deficiency? what is a feature of alpha 1 antitrypsin deficiency caused by mutation? what is alpha 1 antitrypsin?

4.

how are tropoelastin molecules cross-linked?

19.

20.

5.

how is progollagen secreted to ECM? how is the assembly of forming the superhelix started?

21.

6.

22.

what is elastin?

7.

is each alpha chain in collagen left or right handed what AAs is elastin rich in? what are clinical features of Ehlers Danlos syndrome? what are clinical features of Marfan syndrome?

23.

what is Marfan syndrome?

8. 9.

24.

what is osteogenesis imperfecta due to? what is procollagen?

10.

25.

26.

11.

what are clinical features of osteogenesis imperfecta? what are the two main types of fibrous proteins that are important? what causes Ehlers Danlos syndrome?

what is the AA sequence of collagen alpha helix chains?

12.

27.

what is the composition of collagen? what is the difference in composition between elastin and collagen? what is the most clinically important mutation regarding Ehler Danlos syndrome? what is the most common mutation that causes alpha 1 antitrypsin deficiency?

28.

13.

mutations in genes for fibrillar collaf=gen metabolism for types 1 3 or 4 copper

29.

14.

what cofactor does Collagen fibril cross-linking enzyme lysyl oxidase require? what cofactors are required for hydroxylation of proline and lysine on pre-pro-alpha chains in the ER?

30.

15.

O2 and Ascorbic acid (AKA vitamin C)

31.

what mutation causes Marfan syndrome? what type of mutations cause osteogenesis imperfecta? where are pro-alpha chains polypeptide chains formed? where is elastin found?

mutations in the fibrillin-1 protein: abnormal fibrillin-1 monomers missense mutations: glycine substituted by larger AA membrane bound ribosomes as pre-pro-alpha chains lungs walls of large arteries elastic ligaments liver, and some by monocytes and macrophages bones, skin, tendons, cornea, viscera cartilage, invertebral discs , vitreous humor of eye skin, blood vessels, viscera basil lamina cartilage at 3/4 and 1/4 length fragments

32.

33. 34.

35. 36. 37. 38. 39. 40. 41.

where is it majorly synthesized? where is type 1 (fibril-forming) collagen found? where is type 2 collagen found? where is type 3 collagen found? where is type 4 collagen found? where is type 9 (fibril associated) collagen found? where is type collagen cleaved?