title: Detection of Toll-like receptor 2 (TLR2) mutation in the lepromatous leprosy patients.
abstract: Toll-like receptor 2 (TLR2) is critical in the immune response to mycobacterial infections and the mutations in the TLR2 have been shown to confer the susceptibility to severe infection with mycobacteria. To define this, we screened the intracellular domain of TLR2 in 131 subjects. Groups of 45 lepromatous and 41 tuberculoid leprosy (TT) patients and 45 controls were investigated. Ten subjects among the lepromatous leprosy (LL) patients had a band variant detected by single-stranded conformational polymorphism. DNA sequencing detected a C to T substitution at nucleotide 2029 from the start codon of the TLR2. The mutation would substitute Arg to Trp at amino acid residue 677, one of the conserved regions of TLR2. In our results, the mutation was involved in only LL, not TT and control. Thus, we suggest that the mutation in the intracellular domain of TLR2 has a role in susceptibility to LL.
authors.affiliation: Institute of Hansen's Disease, Department of Pathology, College of Medicine, The Catholic University of Korea, 505 Banpo-Dong, Socho-Gu, 137-701, Seoul, South Korea.
authors.forename: T J
authors.initials: TJ
authors.lastname: Kang
authors.forename: G T
authors.initials: GT
authors.lastname: Chae
mesh_terms: D000595:Amino Acid Sequence; D029721:Drosophila Proteins; D020022:Genetic Predisposition to Disease; D006801:Humans; D015440:Leprosy, Lepromatous / Q000097:blood / Q000235:genetics* / Q000276:immunology; D015441:Leprosy, Tuberculoid / Q000097:blood / Q000235:genetics / Q000276:immunology; D007963:Leukocytes, Mononuclear / Q000276:immunology / Q000378:metabolism; D008562:Membrane Glycoproteins / Q000737:chemistry / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D009166:Mycobacterium leprae; D018807:Polymorphism, Single-Stranded Conformational; D011956:Receptors, Cell Surface / Q000737:chemistry / Q000235:genetics*; D016415:Sequence Alignment; D015398:Signal Transduction; D051195:Toll-Like Receptor 2; D051193:Toll-Like Receptors
chemical_list: D029721:Drosophila Proteins; D008562:Membrane Glycoproteins; D011956:Receptors, Cell Surface; C495342:TLR2 protein, human; D051195:Toll-Like Receptor 2; D051193:Toll-Like Receptors