Abstract
An association between insertion/deletion polymorphism (IDP) of the Alu repeat in intron 16 of the angiotensin I-converting enzyme (ACE) gene and the serum free amino acid levels in the patients with connective tissue dysplasias was examined. Genotyping of 102 patients (25 II, 51 ID, and 26 DD) was performed using PCR. Serum free amino acids levels in these patients were determined by use of HPLC technique. A statistically significant increase of the leucine–isoleucine (P< 0.05) and phenylalanine (P < 0.01) levels in deletion homozygous patients (DD) relative insertion homozygous (II) patients was observed. The differences in respect of other amino acids were not detected. These findings point to the importance of registration of IDP in the ACE gene at dietary therapy of such patients, as well as in the individual choice of medical preparations containing the amino acids mentioned.
Similar content being viewed by others
References
Eliseeva, Yu.E., Structural and Functional Features of Angiotensin-Converting Enzyme, Bioorgan. Khim., 1998, vol. 24, no. 4, pp. 262-270.
Cambien, F., Alhenc-Gelas, F., Herbeth, B., et al., Familial Resemblance of Plasma Angiotensin-Converting Enzyme Level: The Nancy Study, Am. J. Hum. Genet., 1988, vol. 43, no. 5, pp. 774-780.
Soubrier, F., Alhenc-Gelas, F., Hubert, C., et al., Two Putative Active Centers in Human Angiotensin I-Converting Enzyme Revealed by Molecular Cloning, Proc. Natl. Acad. Sci. USA, 1988, vol. 85, no. 24, pp. 9386-9390.
Tiret, L., Rigat, B., Visvikis, S., et al., Evidence, from Combined Segregation and Linkage Analyses, That a Variant of the Angiotensin I-Converting Enzyme (ACE) Gene Controls Plasma ACE Levels, Am. J. Hum. Genet., 1992, vol. 51, pp. 197-205.
Tomilin, N.V., Control of Genes by Mammalian Retroposons, Int. Rev. Cytol., 1999, vol. 186, pp. 1-48.
Nakai, K., Itoh, C., Miura, Y., et al., Deletion Polymorphism of the Angiotensin I-Converting Enzyme Gene Is Associated with Serum ACE Concentration and Increased Risk for CAD in the Japanese, Circulation, 1994, vol. 90, no. 5, pp. 2199-2202.
Rigat, B., Hubert, C., Alhenc-Gelas, F., et al., An Insertion/Deletion Polymorphism in the Angiotensin I-Converting Enzyme Gene Accounting for Half the Variance of Serum Enzyme Levels, J. Clin. Invest., 1990, vol. 86, pp. 1343-1346.
Hewitt, S.M., Fraizer, G.C., and Saunders, G.F., Transcriptional Silencer of the Wilms' Tumor Gene WT1 Contains an Alu Repeat, J. Biol. Chem., 1995, vol. 270, no. 30, pp. 17 908-17 912.
McHaffie, G.S. and Ralston, S.H., Origin of a Negative Calcium Response Element in an Alu Repeat: Implications for Regulation of Gene Expression by Extracellular Calcium, Bone, 1995, no. 1, pp. 11-14.
Saffer, J.D. and Thurston, S.J., A Negative Regulatory Element with Properties Similar to Those of Enhancers Is Contained within an Alu Sequence, Mol. Cell. Biol., 1989, vol. 9, no. 2, pp. 355-364.
Tomilin, N.V., Iguchi-Ariga, S.M., and Ariga, H., Transcription and Replication Silencer Element Is Present within Conserved Region of Human Alu Repeats Interacting with Nuclear Protein, FEBS Lett., 1990, vol. 263, no. 1, pp. 69-72.
Kadurina, T.I., Nasledstvennye kollagenopatii (Hereditary Collagenopathies), St. Petersburg: Nevskii Dialekt, 2000.
O'Dell, S.D., Humphries, S.E., and Day, I.N.M., Rapid Methods for Population-Scale Analysis for Gene Polymorphisms: The ACE Gene as an Example, Br. Heart. J., 1995, vol. 73, pp. 368-371.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Kazakov, V.I., Kadurina, T.I., Usmanova, N.M. et al. Insertion/Deletion Polymorphism of the Angiotensin I-Converting Enzyme Gene and Its Relationship to Serum Free Amino Acid Levels in the Patients with Connective Tissue Dysplasias. Russian Journal of Genetics 39, 955–959 (2003). https://doi.org/10.1023/A:1025395210077
Issue Date:
DOI: https://doi.org/10.1023/A:1025395210077