The present and future of the gene therapy of hereditary α1-protease inhibitor deficiency
DOI:
https://doi.org/10.7124/bc.000253Abstract
Molecular-genetic principles of hereditary α1-protease inhibitor deficiency are reported as well as data concerning the current gene therapy views on this human pathological unit are reviewed.References
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.
