Russian Journal of Bioorganic Chemistry

, Volume 34, Issue 6, pp 768–770

A new mutation c.422C>G (p.S141C) in homoand heterozygous forms of the human leptin gene

  • M. K. Chekhranova
  • S. K. Karpova
  • S. B. Yatsyshina
  • J. A. Pankov
Letters to the Editor

Abstract

Mutation g.15409C>G, n.422C>G (p.S141C) in homo-and heterozygous forms of the human LEP gene was identified among some patients of the high mountain village of Karaul, Ashkhabad oblast, Turkmenistan, some of which suffer from obesity. It causes the substitution S120C in the secreted leptin. The mature leptin molecule (146 aa) has only two Cys residues (96C and 146C) forming an S-S bridge, which is important for the hormone function. A third mutation, 120C, in the molecule might disturb the correct formation of the S-S bond and could alter the leptin activity.

Key words

leptin LEP gene mutation 

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Copyright information

© MAIK Nauka 2008

Authors and Affiliations

  • M. K. Chekhranova
    • 1
  • S. K. Karpova
    • 1
  • S. B. Yatsyshina
    • 2
  • J. A. Pankov
    • 1
  1. 1.Endocrinological Research CenterMoscowRussia
  2. 2.Central Research Institute for EpidemiologyMoscowRussia

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