Mannan-binding Lectin and Its Relevance in Innate Immunity
Chumchalová J.1, Štěrba J.2, Múdrý P.2
Centrum molekulární biologie a genové terapie, Interní hematoonkologická klinika, LF MU a FN Brno - PMDV1 přednosta prof. MUDr. J. Mayer, CSc. Klinika dětské onkologie, LF MU a FN Brno - PDM2 přednosta doc. MUDr. J. Štěrba, PhD. |
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Summary:
Mannan binding lectin (MBL) is a protein involved in complement activation in innate immunity. Deficiency
of MBL plays a key role in infections when other immunodeficiency is present. The constitutional level of MBL in
serum is very stable whereas the level in different individuals varies. This large variability is caused by mutations
in exon 1 of the gene encoding the MBL in codon 52, 54, and 57. The expression of the MBL gene is influenced by
several polymorphisms in the promoter region. Lower level of MBL in serum can be associated with recurrent
infections and influences pathogenesis of some diseases for example cystic fibrosis, systematic lupus erythematosus,
AIDS, hepatitis etc. On the other hand, protective effect to some intracellular pathogens was found.
Key words:
mannan-binding lectin (MBL), mutation, complement pathway, infection diseases
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