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Review

Potential therapy paradigms for Marfan syndrome

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Pages 983-993 | Published online: 23 Feb 2005

Bibliography

  • MARFAN AB: Un cas de deformation congenitale des quatre membres plus prononce aux extremites caracterisse per allongement des os avec un certain degre d'amincissement. Bull. Mem. Soc. Med. Hop. Paris (1896) 13:220–226.
  • GRAY JR, DAVIES, SJ: Marfan syndrome. J. Med. Genet. (1996) 33 (5):403–408.
  • TSIPOURAS P, KILPATRICK MW: Marfan syndrome. In: Molecular Genetics of Inherited Eye Disorders. Jay B &Wright A, (Eds.), Harwood Academic Publishers, London (1994):383–393.
  • PYERITZ RE & MCKUSICK VA: The Marfan syndrome: diagnosis and management. New Engl. J. Med. (1979) 300(14):772–777.
  • MAUMENEE IH: The eye of the Marfan syndrome. Trans.Am. Opthalmol Soc. (1981) 79:684–733.
  • KILPATRICK MW, HARTON GL, PHYLACTOU LA et al.: Preimplantation genetic diagnosis in Marfan syndrome. Fetal Diagn. Ther. (1996) 11(6)402–406.
  • TSIPOURAS P: Marfan syndrome: light at the end of the tunnel. Am. J. Hum. Genet. (1990) 46(4):643–645.
  • HOLLISTER DW, GODFREY M, SAKAI LY & PYERITZ RE: Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome. New Engl. J. Med. (1990) 323(3):152–159.
  • KAINULAINEN K, PULKKINEN L, SAVOLAINEN A, KAITILA I, PELTONEN L: Location on chromosome 15 of the gene defect causing Marfan syndrome. New Engl. J. Med. (1990) 323(14):935–939.
  • •Initial report of the localisation of the gene responsible for MFS.
  • LEE B, GODFREY M, VITALE E et al.: Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature (1 9 9 1) 352(6333)330–334.
  • TSIPOURAS P, DEL MASTRO R, SARFARAZI M et al.: Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study. New Engl. J. Med. (1992) 326(14):905–909.
  • DIETZ HC, CUTTING GR, PYERITZ RE et al.: Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene [see comments]. Nature (1991) 352(6333)337–339.
  • •First reported identification of an FBN1 mutation in MFS patients.
  • DIETZ HC, PYERITZ RE: Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum. Mol. Genet. (1995) 4 Spec No:1799-1809.
  • ••A concise summary of FBN1 mutations identified in patientswith MFS and related conditions.
  • RAMIREZ F: Fibrillin mutations in Marfan syndromeand related phenotypes. Curr. Opin. Genet. Dev. (1996) 6 (3):309–315.
  • AOYAMA T, TYNAN K, DIETZ HC, FRANCKE U, FURTHMAYR H: Missense mutations impair intracel-lular processing of fibrillin and microfibril assembly in Marfan syndrome. Hum. Mol. Genet. (1993) 12:2135–2140.
  • HEWETT DR, LYNCH JR, SMITH R, SYKES BC: A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module. Hum. Mol. Genet. (1993) 2(0475–477.
  • HEWETT D, LYNCH J, CHILD A, FIRTH H SYKES B: Differ-ential allelic expression of a fibrillin gene (FBN1) in patients with Marfan syndrome. Am. J. Hum. Genet. (1994) 55(3):447–452.
  • GOTT VL, PYERITZ RE, CAMERON DE, GREENE PS, MCKUSICK VA: Composite graft repair of Marfan aneurysm of the ascending aorta: results in 100 patients. Ann. Thorac. Surg. (1991) 52 (0 :38–44.
  • SHORES J, BERGER KR, MURPHY EA, PYERITZ RE: Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan's syndrome. New Engl. J. Med. (1994) 330(19):1335–1341.
  • SILVERMAN DI, BURTON KJ, GRAY J et al.: Life expectancy in the Marfan syndrome. Am. J. Cardiol. (1995) 75(2):157–160.
  • SILVERMAN DI, GRAY J, ROMAN MJ et al.: Family history of severe cardiovascular disease in Marfan syndrome is associated with increased aortic diameter and decreased survival. J. Am. Coll. CardioL (1995) 26(4):1062–1067.
  • KILPATRICK MW, PHYLACTOU LA: Towards an RNA-based therapy for Marfan syndrome. Mol. Med. Today (1998) 4(9):376–382.
  • •An alternative review of the potential for ribozymes to be beneficial in the therapy of MFS.
  • ELDADAH ZA, BRENN T, FURTHMAYR H, DIETZ HC: Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype. J. Clin. Invest. (1995) 95(2):874–878.
  • PEREIRA L, ANDRIKOPOULOS K, TIAN J et al.: Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome. Nature Genet. (1997) 17(2):218–222.
  • ••A report of transgenic mice that supports a role for fibrillin-1in tissue homeostasis rather than organogenesis.
  • GUERRIER-TAKADA C, GARDINER K, MARSH T, PACE N, ALTMAN S: The RNA moiety of ribonuclease P is the catalytic subunit of the enzyme. Cell (1983) 35:849–857.
  • CECH TR, ZAUG AJ, GRABOWSKI PJ: In vitro splicing of the ribosomal RNA precursor of Tetrahymena: involvement of a guanosine nucleotide in the excision of the intervening sequence. Cell (1981) 27(3 Pt 2)487–496.
  • BREAKER RR, JOYCE GF: A DNA enzyme with Mg(24dependent RNA phosphoesterase activity. Chem. Biol. (1995) 2(10655–660.
  • ROBERTUS JD, LADNER JE, FINCH JT et al.: Structure of yeast phenylalanine tRNA at 3 A resolution. Nature (1974) 250(467):546–551.
  • LADNER JE, JACK A, ROBERTUS JD et al.: Structure of yeast phenylalanine transfer RNA at 2.5 A resolution. Proc. Natl. Acad. Sci. USA (1975) 72(11):4414–4418.
  • LATHAM JA, CECH TR: Defining the inside and outside of a catalytic RNA molecule. Science (1989) 245 (4915):276–282.
  • SYMONS RH: Self-cleavage of RNA in the replication of small pathogens of plants and animals. Trends Biochem. Sci. (1989) 14(10:445–450.
  • SYMONS RH: Small catalytic RNAs. Annu. Rev. Biochem. (1992) 61:641–671.
  • •A comprehensive review of hammerhead ribozymes.
  • SHIMAYAMA T, NISHIKAWA S, TAIRA K: Generality of the NUX rule: kinetic analysis of the results of system-atic mutations in the trinucleotide at the cleavage site of hammerhead ribozymes. Biochemistry (1995) 34(11)3649–3654.
  • SULLENGER BA, CECH TR: Ribozyme-mediated repair ofdefective mRNA by targeted, trans-splicing. Nature (1994) 371(6498):619–622.
  • CUENOUD B, SZOSTAK JW: A DNA metalloenzyme withDNA ligase activity. Nature (1995) 375(6532):611–614.
  • SANTORO SW, JOYCE GF: A general purpose RNA-cleaving DNA enzyme. Proc. Natl Acad. Sci. USA (1997) 94(9):4262–4266.
  • ASAHINA Y, ITO Y, WU CH, WU GY: DNA ribonucleases that are active against intracellular hepatitis B viral RNA targets. Hepatology (1998) 28(2):547–554.
  • SANTORO SW, JOYCE GF: Mechanism and utility of an RNA-cleaving DNA enzyme. Biochemistry (1998) 37 (38):13330–13342.
  • MILLINGTON-WARD S, O'NEILL B, TUOHY G et al.: Strate-gems in vitro for gene therapies directed to dominant mutations. Hum. Mol Genet. (1997) 6(9):1415–1426.
  • BIRIKH KR, HEATON PA, ECKSTEIN F: The structure, function and application of the hammerhead ribozyme. Euro. J. Biochem. (1997) 245(0:1–16.
  • COUTURE LA, STINCHCOMB DT: Anti-gene therapy: the use of ribozymes to inhibit gene function. Trends Genet. (1996) 12(12):510–515.
  • PHYLACTOU LA, KILPATRICK MW, WOOD MJA: Ribozymes as therapeutic tools for genetic disease. Hum. Mol. Genet. (1998) 7(101649–1653.
  • ••A review that specifically addresses the potential ofribozymes for the therapy of inherited diseases.
  • HEIDENREICH 0, BENSELER F, FAHRENHOLZ A, ECKSTEIN F: High activity and stability of hammerhead ribozymes containing 2'-modified pyrimidine nucleo-sides and phosphorothioates. J. Biol. Chem. (1994) 269(3):2131–2138.
  • PIEKEN WA, OLSEN DB, BENSELER F, AURUP H & ECKSTEIN F: Kinetic characterization of ribonuclease-resistant 2'-modified hammerhead ribozymes. Science (1991) 253(5017):314–317.
  • MORGAN RA, ANDERSON WF: Human gene therapy. Annu. Rev. Biochem. (1993) 62:191–217.
  • LIEBER A, KAY MA: Adenovirus-mediated expression of ribozymes in mice. J. Virol. (1996) 70(5):3153–3158.
  • GRAHAM FL, PREVEC L: Manipulation of adenovirus vectors. In: Gene Transfer and Expression Protocols. Murray EJ (Ed.) The Humana Press, Inc. Clifton, NJ, USA (1990:109–128.
  • WU GY, WU CH: Receptor-mediated gene delivery and expression in vivo. J. Biol. Chem. (1988) 263(29):14621–14624.
  • WAGNER E, ZENKE M, COTTEN M, BEUG H, BIRNSTIELML: Transferrin-polycation conjugates as carriers for DNA uptake into cells. Proc. Natl. Acad. Sci. USA (1990) 87 (9):3410–3414.
  • COTTEN M, LANGLE-ROUAULT F, KIRLAPPOS,H et al.: Transferrin-polycation-mediated introduction of DNA into human leukemic cells: stimulation by agents that affect the survival of transfected DNA or modulate transferrin receptor levels. Proc. Natl. Acad. ScL USA (1990) 87(10:4033–4037.
  • ZATLOUKAL K, WAGNER E, COTTEN M et al.: Transferrinfection: a highly efficient way to express gene constructs in eukaryotic cells. Ann. NY Acad. ScL (1992) 660:136–153.
  • COTTEN M, WAGNER E, BIRNSTIEL ML: Receptor-mediated transport of DNA into eukaryotic cells. Methods Enzymol. (1993) 217:618–644.
  • KILPATRICK MW, PHYLACTOU LA, GODFREY M, WU CH, WU GY, TSIPOURAS P: Delivery of a hammerhead ribozyme specifically down-regulates the production of fibrillin-1 by cultured dermal fibroblasts. Hum. Mol. Genet. (1996) 5(12):1939–1944.
  • ••First report of the use of hammerhead ribozymes todown-regulate FBN1 gene expression.
  • MONTGOMERY RA, DIETZ HC: Inhibition of fibrillin 1expression using Ul snRNA as a vehicle for the presen-tation of antisense targeting sequence. Hum. Mol. Genet. (1997) 6(4):519–525.
  • PHYLACTOU LA, TSIPOURAS P, KILPATRICK MW: Hammerhead ribozymes targeted to the FBN1 mRNA can discriminate a single base mismatch between ribozyme and target. Biochem. Biophys. Res. Commun. (1998) 249(3):804–810.
  • •Demonstration of the potential for hammerhead ribozymes specifically downregulate mutant FBN1 gene expression.

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