Abstract
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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Alanine / genetics
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Amino Acid Substitution / genetics
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Aspartic Acid / genetics
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Cell Adhesion Molecules, Neuronal / chemistry
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Cell Adhesion Molecules, Neuronal / genetics*
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DNA Mutational Analysis
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Female
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Genetic Markers / genetics
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Genetic Predisposition to Disease / genetics
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Genetic Testing
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Genotype
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Humans
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Immunity, Innate / genetics
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Leprosy / complications*
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Leprosy / genetics*
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Leprosy / physiopathology
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Male
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Middle Aged
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Nerve Growth Factors / chemistry
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Nerve Growth Factors / genetics*
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Peripheral Nerves / metabolism*
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Peripheral Nerves / pathology
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Peripheral Nerves / physiopathology
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Peripheral Nervous System Diseases / diagnosis
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Peripheral Nervous System Diseases / genetics*
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Peripheral Nervous System Diseases / physiopathology
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Polymorphism, Single Nucleotide / genetics*
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RNA, Messenger / metabolism
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Up-Regulation / genetics
Substances
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Cell Adhesion Molecules, Neuronal
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Genetic Markers
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NINJ1 protein, human
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Nerve Growth Factors
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RNA, Messenger
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Aspartic Acid
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Alanine