02148nas a2200529 4500000000100000008004100001260001300042653001000055653001200065653002800077653001800105653003800123653002800161653001100189653002000200653003800220653002000258653001300278653001100291653002100302653001200323653000900335653001600344653002500360653002200385653003900407653003600446653001900482653001800501100001400519700001600533700001900549700001400568700001400582700001600596700001400612700001900626700002200645700001200667700001600679700001300695245011100708300001000819490000800829520076700837022001401604 2007 d c2007 Oct10aAdult10aAlanine10aAmino Acid Substitution10aAspartic Acid10aCell Adhesion Molecules, Neuronal10aDNA Mutational Analysis10aFemale10aGenetic Markers10aGenetic Predisposition to Disease10aGenetic Testing10agenotype10aHumans10aImmunity, Innate10aleprosy10aMale10aMiddle Aged10aNerve Growth Factors10aPeripheral nerves10aPeripheral Nervous System Diseases10aPolymorphism, Single Nucleotide10aRNA, Messenger10aUp-Regulation1 aCardoso C1 aMartinez AN1 aGuimarães PEM1 aMendes CT1 aPacheco A1 aOliveira RB1 aTeles RMB1 aIllarramendi X1 aPereira Sampaio E1 aSarno E1 aDias-Neto E1 aMoraes M00aNinjurin 1 asp110ala single nucleotide polymorphism is associated with protection in leprosy nerve damage. a131-80 v1903 a

Leprosy is the major cause of non-traumatic neuropathy. Herein, we investigated the role of ninjurin 1, an adhesion molecule involved in nerve regeneration in leprosy. Our results demonstrated that M. leprae stimulates in vitro up-regulation of ninjurin mRNA in cultured Schwann and blood cells as well as in vivo mRNA and protein expression in leprosy nerve biopsies. A polymorphism (asp110ala) was investigated in a case-control study (1123 individuals) and no association was found with leprosy per se or with disseminated forms. Nevertheless, ala110 was associated with functional nerve impairment (OR=2.42; p=0.02 for ala/ala) and with lower mRNA levels. Our data suggests that asp110ala could be a valuable genetic marker of nerve damage in leprosy.

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