|Title||Ninjurin 1 asp110ala single nucleotide polymorphism is associated with protection in leprosy nerve damage.|
|Publication Type||Journal Article|
|Authors||Cardoso CC, Martínez AN, Guimarães PEM, Mendes CT, Pacheco AG, de Oliveira RB, Teles RMB, Illarramendi X, Sampaio EP, Sarno EN, Dias-Neto E, Moraes MO|
|Abbrev. Journal||J. Neuroimmunol.|
|Journal||Journal of neuroimmunology|
|Year of Publication||2007|
|Keywords||Adult, Alanine, Amino Acid Substitution, Aspartic Acid, Cell Adhesion Molecules, Neuronal, DNA Mutational Analysis, Female, Genetic Markers, Genetic Predisposition to Disease, Genetic Testing, Genotype, Humans, Immunity, Innate, Leprosy, Male, Middle Aged, Nerve Growth Factors, Peripheral nerves, Peripheral Nervous System Diseases, Polymorphism, Single Nucleotide, RNA, Messenger, Up-Regulation|
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.