[A new mutation c.422C>G (p.S141C) in homo- and heterozygous forms of the human leptin gene].
Mutation g.15409C>G, c.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 adiposity. It causes the substitution S120C in the secreted leptin. The mature leptin molecule (146 aa) has only two Cys residues (C96 and C146) forming an S-S bridge, which is important for the hormone function. A third mutation, C120, in the molecule might disturb the correct formation of the S-S bond and could alter the leptin activity.
Chekhranova
M K
MK
Endocrinological Research Center, Rosmedtechnology, Moskvorech'e 1, Moscow, 115478, Russia.
Karpova
S K
SK
Iatsyshina
S B
SB
Pankov
Iu A
IuA
D050154:Adiposity / Q000235:genetics*; D019943:Amino Acid Substitution; D004220:Disulfides / Q000378:metabolism; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D020738:Leptin / Q000235:genetics* / Q000378:metabolism; D008297:Male; D017354:Point Mutation; D014423:Turkmenistan
D004220:Disulfides; D020738:Leptin