Ninjurin 1 asp110ala single nucleotide polymorphism is associated with protection in leprosy nerve damage.
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.
Cardoso
Cynthia Chester
CC
Leprosy Laboratory, Mycobacterioses Department, Oswaldo Cruz Institute, FIOCRUZ, Av. Brasil 4365, Manguinhos, Rio de Janeiro, RJ, Brazil.
Martinez
Alejandra Nóbrega
AN
Guimarães
Pedro Edson Moreira
PE
Mendes
Camila Teixeira
CT
Pacheco
Antônio Guilherme
AG
de Oliveira
Rosane Barbosa
RB
Teles
Rosane Magda Brandão
RM
Illarramendi
Ximena
X
Sampaio
Elizabeth Pereira
EP
Sarno
Euzenir Nunes
EN
Dias-Neto
Emmanuel
E
Moraes
Milton Ozório
MO
D000328:Adult; D000409:Alanine / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics; D001224:Aspartic Acid / Q000235:genetics; D015816:Cell Adhesion Molecules, Neuronal / Q000737:chemistry / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007113:Immunity, Innate / Q000235:genetics; D007918:Leprosy / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D009414:Nerve Growth Factors / Q000737:chemistry / Q000235:genetics*; D010525:Peripheral Nerves / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012333:RNA, Messenger / Q000378:metabolism; D015854:Up-Regulation / Q000235:genetics