Basement Membrane Collagens and Disease Mechanisms

Overview

Journal Essays Biochem

Specialty Biochemistry

Date 2019 Aug 8

PMID 31387942

Citations 44

Authors

Anna Gatseva

Yuan Yan Sin

Gaia Brezzo

Tom Van Agtmael

Affiliations

Soon will be listed here.

Abstract

Basement membranes (BMs) are specialised extracellular matrix (ECM) structures and collagens are a key component required for BM function. While collagen IV is the major BM collagen, collagens VI, VII, XV, XVII and XVIII are also present. Mutations in these collagens cause rare multi-systemic diseases but these collagens have also been associated with major common diseases including stroke. Developing treatments for these conditions will require a collective effort to increase our fundamental understanding of the biology of these collagens and the mechanisms by which mutations therein cause disease. Novel insights into pathomolecular disease mechanisms and cellular responses to these mutations has been exploited to develop proof-of-concept treatment strategies in animal models. Combined, these studies have also highlighted the complexity of the disease mechanisms and the need to obtain a more complete understanding of these mechanisms. The identification of pathomolecular mechanisms of collagen mutations shared between different disorders represent an attractive prospect for treatments that may be effective across phenotypically distinct disorders.

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References

Heinonen S, Mannikko M, Klement J, Murphy G, Uitto J . Targeted inactivation of the type VII collagen gene (Col7a1) in mice results in severe blistering phenotype: a model for recessive dystrophic epidermolysis bullosa. J Cell Sci. 1999; 112 ( Pt 21):3641-8. DOI: 10.1242/jcs.112.21.3641. View

Lu W, Phillips C, Killen P, Hlaing T, HARRISON W, Elder F . Insertional mutation of the collagen genes Col4a3 and Col4a4 in a mouse model of Alport syndrome. Genomics. 1999; 61(2):113-24. DOI: 10.1006/geno.1999.5943. View

Tasanen K, Floeth M, Schumann H, Bruckner-Tuderman L . Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain. J Invest Dermatol. 2000; 115(2):207-12. DOI: 10.1046/j.1523-1747.2000.00049.x. View

Cosgrove D, Rodgers K, Meehan D, Miller C, BOVARD K, GILROY A . Integrin alpha1beta1 and transforming growth factor-beta1 play distinct roles in alport glomerular pathogenesis and serve as dual targets for metabolic therapy. Am J Pathol. 2000; 157(5):1649-59. PMC: 1885718. DOI: 10.1016/s0002-9440(10)64802-x. View

Eklund L, Piuhola J, Komulainen J, Sormunen R, Ongvarrasopone C, Fassler R . Lack of type XV collagen causes a skeletal myopathy and cardiovascular defects in mice. Proc Natl Acad Sci U S A. 2001; 98(3):1194-9. PMC: 14731. DOI: 10.1073/pnas.98.3.1194. View

Ackley B, Crew J, Elamaa H, Pihlajaniemi T, Kuo C, Kramer J . The NC1/endostatin domain of Caenorhabditis elegans type XVIII collagen affects cell migration and axon guidance. J Cell Biol. 2001; 152(6):1219-32. PMC: 2199198. DOI: 10.1083/jcb.152.6.1219. View

Vanegas O, Bertini E, Zhang R, Petrini S, Minosse C, Sabatelli P . Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci U S A. 2001; 98(13):7516-21. PMC: 34700. DOI: 10.1073/pnas.121027598. View

Lamande S, Morgelin M, Selan C, Jobsis G, Baas F, Bateman J . Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations. J Biol Chem. 2001; 277(3):1949-56. DOI: 10.1074/jbc.M109932200. View

Fukai N, Eklund L, Marneros A, Oh S, Keene D, Tamarkin L . Lack of collagen XVIII/endostatin results in eye abnormalities. EMBO J. 2002; 21(7):1535-44. PMC: 125362. DOI: 10.1093/emboj/21.7.1535. View

10.

Rattenholl A, Pappano W, Koch M, Keene D, Kadler K, Sasaki T . Proteinases of the bone morphogenetic protein-1 family convert procollagen VII to mature anchoring fibril collagen. J Biol Chem. 2002; 277(29):26372-8. DOI: 10.1074/jbc.M203247200. View

11.

Franzke C, Tasanen K, Schacke H, Zhou Z, Tryggvason K, Mauch C . Transmembrane collagen XVII, an epithelial adhesion protein, is shed from the cell surface by ADAMs. EMBO J. 2002; 21(19):5026-35. PMC: 129053. DOI: 10.1093/emboj/cdf532. View

12.

Pan T, Zhang R, Sudano D, Marie S, Bonnemann C, Chu M . New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. Am J Hum Genet. 2003; 73(2):355-69. PMC: 1180372. DOI: 10.1086/377107. View

13.

Ylikarppa R, Eklund L, Sormunen R, Muona A, Fukai N, Olsen B . Double knockout mice reveal a lack of major functional compensation between collagens XV and XVIII. Matrix Biol. 2003; 22(5):443-8. DOI: 10.1016/s0945-053x(03)00074-x. View

14.

Irwin W, Bergamin N, Sabatelli P, Reggiani C, Megighian A, Merlini L . Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency. Nat Genet. 2003; 35(4):367-71. DOI: 10.1038/ng1270. View

15.

Poschl E, Schlotzer-Schrehardt U, Brachvogel B, Saito K, Ninomiya Y, Mayer U . Collagen IV is essential for basement membrane stability but dispensable for initiation of its assembly during early development. Development. 2004; 131(7):1619-28. DOI: 10.1242/dev.01037. View

16.

Rheault M, Kren S, Thielen B, Mesa H, Crosson J, Thomas W . Mouse model of X-linked Alport syndrome. J Am Soc Nephrol. 2004; 15(6):1466-74. DOI: 10.1097/01.asn.0000130562.90255.8f. View

17.

Gould D, Phalan F, Breedveld G, van Mil S, Smith R, Schimenti J . Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science. 2005; 308(5725):1167-71. DOI: 10.1126/science.1109418. View

18.

Gross O, Koepke M, Beirowski B, Schulze-Lohoff E, Segerer S, Weber M . Nephroprotection by antifibrotic and anti-inflammatory effects of the vasopeptidase inhibitor AVE7688. Kidney Int. 2005; 68(2):456-63. DOI: 10.1111/j.1523-1755.2005.00423.x. View

19.

Van Agtmael T, Schlotzer-Schrehardt U, McKie L, Brownstein D, Lee A, Cross S . Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy. Hum Mol Genet. 2005; 14(21):3161-8. DOI: 10.1093/hmg/ddi348. View

20.

Sugimoto H, Mundel T, Sund M, Xie L, Cosgrove D, Kalluri R . Bone-marrow-derived stem cells repair basement membrane collagen defects and reverse genetic kidney disease. Proc Natl Acad Sci U S A. 2006; 103(19):7321-6. PMC: 1464339. DOI: 10.1073/pnas.0601436103. View