Literature DB >> 12100448

Association of a missense mutation of the laminin alpha2 gene with tuberculoid type of leprosy in Indonesian patients.

Tri Wibawa1, Hardyanto Soebono, Masafumi Matsuo.   

Abstract

Leprosy, an infection caused by Mycobacterium leprae, has a specific tropism for the myelinating Schwann cells of peripheral nerves. Recently, the G domain of laminin alpha2 has been shown to be a mediator for M. leprae to bind to alpha-dystroglycan in Schwann cells. In order to analyse the association of leprosy with the mediator, three genetic polymorphisms encoding the G domain of the laminin alpha2 chain were analysed by direct sequencing in 53 leprosy patients and 58 healthy contact individuals from Indonesia. There was no significant difference in the incidence of the polymorphisms between patients and non-patients. Remarkably, it was found that a missense mutation (T7809C) substituting valine with alanine (V2587A) was found to be more frequent in the tuberculoid type than in the lepromatous type leprosy. It is supposed that this missense mutation is one of the determinant factors in the early onset of peripheral nerve damage in Indonesian tuberculoid leprosy patients.

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Year:  2002        PMID: 12100448     DOI: 10.1046/j.1365-3156.2002.00908.x

Source DB:  PubMed          Journal:  Trop Med Int Health        ISSN: 1360-2276            Impact factor:   2.622


  5 in total

Review 1.  Leprosy and the human genome.

Authors:  Elizabeth A Misch; William R Berrington; James C Vary; Thomas R Hawn
Journal:  Microbiol Mol Biol Rev       Date:  2010-12       Impact factor: 11.056

2.  Missense mutations of the interleukin-12 receptor beta 1(IL12RB1) and interferon-gamma receptor 1 (IFNGR1) genes are not associated with susceptibility to lepromatous leprosy in Korea.

Authors:  Seong-Beom Lee; Byoung Chul Kim; Song Hou Jin; Yong-Gyu Park; Se-Kon Kim; Tae-Jin Kang; Gue-Tae Chae
Journal:  Immunogenetics       Date:  2003-05-13       Impact factor: 2.846

Review 3.  Human genetics of common mycobacterial infections.

Authors:  Natascha Remus; Alexandre Alcaïs; Laurent Abel
Journal:  Immunol Res       Date:  2003       Impact factor: 2.829

4.  Human TLR1 deficiency is associated with impaired mycobacterial signaling and protection from leprosy reversal reaction.

Authors:  Elizabeth A Misch; Murdo Macdonald; Chaman Ranjit; Bishwa R Sapkota; Richard D Wells; M Ruby Siddiqui; Gilla Kaplan; Thomas R Hawn
Journal:  PLoS Negl Trop Dis       Date:  2008-05-07

Review 5.  Pauci- and Multibacillary Leprosy: Two Distinct, Genetically Neglected Diseases.

Authors:  Jean Gaschignard; Audrey Virginia Grant; Nguyen Van Thuc; Marianna Orlova; Aurélie Cobat; Nguyen Thu Huong; Nguyen Ngoc Ba; Vu Hong Thai; Laurent Abel; Erwin Schurr; Alexandre Alcaïs
Journal:  PLoS Negl Trop Dis       Date:  2016-05-24
  5 in total

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