Стан і перспективи генної терапії спадкового дефіциту α1-інгібітора протеаз
DOI:
https://doi.org/10.7124/bc.000253Анотація
Викладено молекулярно-генетичні основи спадкового дефіциту α-інгібіторів протеаз, наведено огляд літературних даних існуючих сучасних підходів до генної терапії даної патології у людини.Посилання
Buraczynska M, Schött D, Hanzlik AJ, Höltmann B, Ulmer WT. Alpha 1-antitrypsin gene polymorphism related to respiratory system disease. Klin Wochenschr. 1987;65(12):538-41.
Hodgson I, Kalsheker N. DNA polymorphisms of the human alpha 1 antitrypsin gene in normal subjects and in patients with pulmonary emphysema. J Med Genet. 1987;24(1):47-51.
Breit SN, Wakefield D, Robinson JP, Luckhurst E, Clark P, Penny R. The role of alpha 1-antitrypsin deficiency in the pathogenesis of immune disorders. Clin Immunol Immunopathol. 1985;35(3):363-80.
Massi G, Bruscalupi G, Auconi P. Serum protease inhibitory capacity. (Recent knowledge on alpha 1-antitrypsin deficiency). Ric Clin Lab. 1982;12(3):449-58.
Cox DW, Hoeppner VH, Levison H. Protease inhibitors in patients with chronic obstructive pulmonary disease: the alpha-antitrypsin heterozygote controversy. Am Rev Respir Dis. 1976;113(5):601-6.
Kotova TS, Basis VIu, Atovmian OI, Andreeva NE, Chernokhvostova EV. Alpha 1-protease inhibitor: characteristics of its biochemical and biological properties and its level in various diseases (review of the literature and personal observations). Ter Arkh. 1986;58(4):77-80.
Parik YuYa. Distribution of subtypes of transferrin and antitrypsin of Estonians.I All-Union meet. Med. Geneticists. Thes. of reports. Moscow, 1983; 384-5.
Shurkhal AV, Podogas AV, Altukhov IuP. Genetic polymorphism and rare variants of alpha 1-antitrypsin in the population of Moscow. Research using isoelectric focusing on an ultrathin gel. Genetika. 1984;20(12):2066-9.
Bochkov NP, Zakharov AF, Ivanov VI. Medical Genetics. Moscow, Medicine, 1984; 368 p.
Travis J, Salvesen GS. Human plasma proteinase inhibitors. Annu Rev Biochem. 1983;52:655-709.
Weidinger S, Jahn W, Cujnik F, Schwarzfischer F. Alpha-1-antitrypsin: evidence for a fifth PI M subtype and a new deficiency allele PI*Z augsburg. Hum Genet. 1985;71(1):27-9.
Cox DW, Johnson AM, Fagerhol MK. Report of Nomenclature Meeting for alpha 1-antitrypsin, INSERM, Rouen/Bois-Guillaume-1978. Hum Genet. 1980;53(3):429-33.
Word AM. Alpha1-Antitrypsin. Immunochemistry in clinical laboratory practice. Eds AM. Word, J. Wecher. Moscow, Medicine, 1981; 186-196.
Long GL, Chandra T, Woo SL, Davie EW, Kurachi K. Complete sequence of the cDNA for human alpha 1-antitrypsin and the gene for the S variant. Biochemistry. 1984;23(21):4828-37.
Nukiwa T, Satoh K, Brantly ML, Ogushi F, Fells GA, Courtney M, Crystal RG. Identification of a second mutation in the protein-coding sequence of the Z type alpha 1-antitrypsin gene. J Biol Chem. 1986;261(34):15989-94.
Synovets AS, Levitskiy AP. Inhibitors of proteolytic enzymes in medicine. Kyiv, Zdorov'ya, 1985; 72 p.
Gadek JE, Klein HG, Holland PV, Crystal RG. Replacement therapy of alpha 1-antitrypsin deficiency. Reversal of protease-antiprotease imbalance within the alveolar structures of PiZ subjects. J Clin Invest. 1981;68(5):1158-65.
Straus SD, Fells GA, Wewers MD, Courtney M, Tessier LH, Tolstoshev P, Lecocq JP, Crystal RG. Evaluation of recombinant DNA-directed E.coli produced alpha 1-antitrypsin as an anti-neutrophil elastase for potential use as replacement therapy of alpha 1-antitrypsin deficiency. Biochem Biophys Res Commun. 1985;130(3):1177-84.
Bollen A, Loriau R, Herzog A, Hérion P. Expression of human alpha 1-antitrypsin in Escherichia coli. FEBS Lett. 1984;166(1):67-70.
Courtney M, Buchwalder A, Tessier LH, Jaye M, Benavente A, Balland A, Kohli V, Lathe R, Tolstoshev P, Lecocq JP. High-level production of biologically active human alpha 1-antitrypsin in Escherichia coli. Proc Natl Acad Sci U S A. 1984;81(3):669-73.
Travis J, Owen M, George P, Carrell R, Rosenberg S, Hallewell RA, Barr PJ. Isolation and properties of recombinant DNA produced variants of human alpha 1-proteinase inhibitor. J Biol Chem. 1985;260(7):4384-9.
Shchelkunov SN. Cloning genes. Novosibirsk, Nauka, 1986; 228 p.
Garver RI Jr, Chytil A, Karlsson S, Fells GA, Brantly ML, Courtney M, Kantoff PW, Nienhuis AW, Anderson WF, Crystal RG. Production of glycosylated physiologically "normal" human alpha 1-antitrypsin by mouse fibroblasts modified by insertion of a human alpha 1-antitrypsin cDNA using a retroviral vector. Proc Natl Acad Sci U S A. 1987;84(4):1050-4.
Garver RI Jr, Chytil A, Courtney M, Crystal RG. Clonal gene therapy: transplanted mouse fibroblast clones express human alpha 1-antitrypsin gene in vivo. Science. 1987;237(4816):762-4.
Ciliberto G, Dente L, Cortese R. Cell-specific expression of a transfected human alpha 1-antitrypsin gene. Cell. 1985;41(2):531-40.
Rosenberg S, Barr PJ, Najarian RC, Hallewell RA. Synthesis in yeast of a functional oxidation-resistant mutant of human alpha-antitrypsin. Nature. 1984 Nov 1-7;312(5989):77-80.
Courtney M, Jallat S, Tessier LH, Benavente A, Crystal RG, Lecocq JP. Synthesis in E. coli of alpha 1-antitrypsin variants of therapeutic potential for emphysema and thrombosis. Nature. 1985 Jan 10-18;313(5998):149-51.
Pat. 4711848 USA, IC3 C12 P19/34; C12 N1/100. Site specific mutagenesis in alpha- 1-antitrypsin/'Al. Y. Inslcy, G. Kawasaki. Publ. 08.12.81.
Roberts L. New targets for human gene therapy. Science. 1988;241(4868):906.
Ledley FD, Woo SL. Molecular basis of alpha 1-antitrypsin deficiency and its potential therapy by gene transfer. J Inherit Metab Dis. 1986;9 Suppl 1:85-91.
Mornex JF, Chytil-Weir A, Martinet Y, Courtney M, LeCocq JP, Crystal RG. Expression of the alpha-1-antitrypsin gene in mononuclear phagocytes of normal and alpha-1-antitrypsin-deficient individuals. J Clin Invest. 1986;77(6):1952-61.
Perlino E, Cortese R, Ciliberto G. The human alpha 1-antitrypsin gene is transcribed from two different promoters in macrophages and hepatocytes. EMBO J. 1987;6(9):2767-71.
Neznanov NS, Makarova IV, Kramerova IA, Gazaryan KG. Cloning of human α1-antitrypsin gene and possible aspects of its utilization. Biopolym. Cell. 1989; 5(2):43-7.
Buzhyevskaya TI. Virus-induced mutagenesis in mammalian cells. Kyiv, Naukova Dumka, 1984; 136 p.
Müller H. Human gene therapy: possibilities and limitations. Experientia. 1987;43(4):375-8.
Ulmanen I, Kallio A. Gene therapy of somatic cells, the principle and techniques. Ann Clin Res. 1986;18(5-6):316-21.
Cox DW, Mansfield T. Prenatal diagnosis of alpha 1 antitrypsin deficiency and estimates of fetal risk for disease. J Med Genet. 1987;24(1):52-9.
Kidd VJ, Golbus MS, Wallace RB, Itakura K, Woo SL. Prenatal diagnosis of alpha 1-antitrypsin deficiency by direct analysis of the mutation site in the gene. N Engl J Med. 1984;310(10):639-42.
Newton CR, Kalsheker N, Graham A, Powell S, Gammack A, Riley J, Markham AF. Diagnosis of alpha 1-antitrypsin deficiency by enzymatic amplification of human genomic DNA and direct sequencing of polymerase chain reaction products. Nucleic Acids Res. 1988;16(17):8233-43.
