Polymorphism of Delta3,5-Delta2,4-Dienoyl-Coenzyme A Isomerase (the ECH1 Gene Product Protein) in Human Striated Muscle Tissue

---

L. I. Kovalyov^1*, M. A. Kovalyova¹, P. L. Kovalyov², M. V. Serebryakova³, S. A. Moshkovskii³, and S. S. Shishkin¹

¹Bach Institute of Biochemistry, Russian Academy of Sciences, Leninsky pr. 33, 117071 Moscow, Russia; fax: (495) 954-2733; E-mail: kovalyov@inbi.ras.ru

²Tsiolkovsky Moscow University of Aviation Technology, ul. Orshanskaya 3, 110383 Moscow, Russia; fax: (495) 788-3267

³Orekhovich Institute of Biomedical Chemistry, Russian Academy of Medical Sciences, Pogodinskaya ul. 10, 119121 Moscow, Russia; fax: (495) 245-0857

^* To whom correspondence should be addressed.

Received August 23, 2005; Revision received November 20, 2005

---

Two polymorphic variants of the ECH1 gene product protein (Delta3,5-Delta2,4-dienoyl-coenzyme A isomerase) have been revealed by proteomics methods in samples of human striated muscle tissue. These variants are identical in molecular weight (29.7 kD) but different in pI values (6.57 and 6.75) and in amino acid substitution (41 E→A) confirmed by mass spectrometry. The same type of polymorphism has been detected in samples of different tissues of the same person, so these variants are considered (also based on other data) to be allelic. The rates of these alleles in two representative cohorts of Moscow and Minsk residents are similar.

---

KEY WORDS: human muscle proteins, proteomics, polymorphism, Delta3,5-Delta2,4-dienoyl-CoA isomerase

DOI: 10.1134/S0006297906040146

---