Leprosy pathophysiology: Difference between revisions
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==Genetics== | ==Genetics== | ||
The [[infection]] by the [[mycobacterium leprae]] and the course of the [[disease]] are influenced by certain [[genetic]] factors of the host.<ref name="BhatPrakash2012">{{cite journal|last1=Bhat|first1=Ramesh Marne|last2=Prakash|first2=Chaitra|title=Leprosy: An Overview of Pathophysiology|journal=Interdisciplinary Perspectives on Infectious Diseases|volume=2012|year=2012|pages=1–6|issn=1687-708X|doi=10.1155/2012/181089}}</ref><ref name="pmid18247059">{{cite journal| author=Alter A, Alcaïs A, Abel L, Schurr E| title=Leprosy as a genetic model for susceptibility to common infectious diseases. | journal=Hum Genet | year= 2008 | volume= 123 | issue= 3 | pages= 227-35 | pmid=18247059 | doi=10.1007/s00439-008-0474-z | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18247059 }} </ref> Some [[single-nucleotide polymorphism]] have been associated with a higher incidence of leprosy. These include:<ref name="BhatPrakash2012">{{cite journal|last1=Bhat|first1=Ramesh Marne|last2=Prakash|first2=Chaitra|title=Leprosy: An Overview of Pathophysiology|journal=Interdisciplinary Perspectives on Infectious Diseases|volume=2012|year=2012|pages=1–6|issn=1687-708X|doi=10.1155/2012/181089}}</ref><ref name="pmid17353895">{{cite journal| author=Alcaïs A, Alter A, Antoni G, Orlova M, Nguyen VT, Singh M et al.| title=Stepwise replication identifies a low-producing lymphotoxin-alpha allele as a major risk factor for early-onset leprosy. | journal=Nat Genet | year= 2007 | volume= 39 | issue= 4 | pages= 517-22 | pmid=17353895 | doi=10.1038/ng2000 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17353895 }} </ref><ref name="pmid12595904">{{cite journal| author=Mira MT, Alcais A, di Pietrantonio T, Thuc NV, Phuong MC, Abel L et al.| title=Segregation of HLA/TNF region is linked to leprosy clinical spectrum in families displaying mixed leprosy subtypes. | journal=Genes Immun | year= 2003 | volume= 4 | issue= 1 | pages= 67-73 | pmid=12595904 | doi=10.1038/sj.gene.6363911 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12595904 }} </ref><ref name="Correa-OliveiraMisch2008">{{cite journal|last1=Correa-Oliveira|first1=Rodrigo|last2=Misch|first2=Elizabeth A.|last3=Macdonald|first3=Murdo|last4=Ranjit|first4=Chaman|last5=Sapkota|first5=Bishwa R.|last6=Wells|first6=Richard D.|last7=Siddiqui|first7=M. Ruby|last8=Kaplan|first8=Gilla|last9=Hawn|first9=Thomas R.|title=Human TLR1 Deficiency Is Associated with Impaired Mycobacterial Signaling and Protection from Leprosy Reversal Reaction|journal=PLoS Neglected Tropical Diseases|volume=2|issue=5|year=2008|pages=e231|issn=1935-2735|doi=10.1371/journal.pntd.0000231}}</ref><ref name="pmid20714752">{{cite journal| author=Cardoso CC, Pereira AC, Brito-de-Souza VN, Dias-Baptista IM, Maniero VC, Venturini J et al.| title=IFNG +874 T>A single nucleotide polymorphism is associated with leprosy among Brazilians. | journal=Hum Genet | year= 2010 | volume= 128 | issue= 5 | pages= 481-90 | pmid=20714752 | doi=10.1007/s00439-010-0872-x | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20714752 }} </ref> | The [[infection]] by the [[mycobacterium leprae]] and the course of the [[disease]] are influenced by certain [[genetic]] factors of the host.<ref name="BhatPrakash2012">{{cite journal|last1=Bhat|first1=Ramesh Marne|last2=Prakash|first2=Chaitra|title=Leprosy: An Overview of Pathophysiology|journal=Interdisciplinary Perspectives on Infectious Diseases|volume=2012|year=2012|pages=1–6|issn=1687-708X|doi=10.1155/2012/181089}}</ref><ref name="pmid18247059">{{cite journal| author=Alter A, Alcaïs A, Abel L, Schurr E| title=Leprosy as a genetic model for susceptibility to common infectious diseases. | journal=Hum Genet | year= 2008 | volume= 123 | issue= 3 | pages= 227-35 | pmid=18247059 | doi=10.1007/s00439-008-0474-z | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18247059 }} </ref> Some [[single-nucleotide polymorphism]] have been associated with a higher [[incidence]] of leprosy. These include:<ref name="BhatPrakash2012">{{cite journal|last1=Bhat|first1=Ramesh Marne|last2=Prakash|first2=Chaitra|title=Leprosy: An Overview of Pathophysiology|journal=Interdisciplinary Perspectives on Infectious Diseases|volume=2012|year=2012|pages=1–6|issn=1687-708X|doi=10.1155/2012/181089}}</ref><ref name="pmid17353895">{{cite journal| author=Alcaïs A, Alter A, Antoni G, Orlova M, Nguyen VT, Singh M et al.| title=Stepwise replication identifies a low-producing lymphotoxin-alpha allele as a major risk factor for early-onset leprosy. | journal=Nat Genet | year= 2007 | volume= 39 | issue= 4 | pages= 517-22 | pmid=17353895 | doi=10.1038/ng2000 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17353895 }} </ref><ref name="pmid12595904">{{cite journal| author=Mira MT, Alcais A, di Pietrantonio T, Thuc NV, Phuong MC, Abel L et al.| title=Segregation of HLA/TNF region is linked to leprosy clinical spectrum in families displaying mixed leprosy subtypes. | journal=Genes Immun | year= 2003 | volume= 4 | issue= 1 | pages= 67-73 | pmid=12595904 | doi=10.1038/sj.gene.6363911 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12595904 }} </ref><ref name="Correa-OliveiraMisch2008">{{cite journal|last1=Correa-Oliveira|first1=Rodrigo|last2=Misch|first2=Elizabeth A.|last3=Macdonald|first3=Murdo|last4=Ranjit|first4=Chaman|last5=Sapkota|first5=Bishwa R.|last6=Wells|first6=Richard D.|last7=Siddiqui|first7=M. Ruby|last8=Kaplan|first8=Gilla|last9=Hawn|first9=Thomas R.|title=Human TLR1 Deficiency Is Associated with Impaired Mycobacterial Signaling and Protection from Leprosy Reversal Reaction|journal=PLoS Neglected Tropical Diseases|volume=2|issue=5|year=2008|pages=e231|issn=1935-2735|doi=10.1371/journal.pntd.0000231}}</ref><ref name="pmid20714752">{{cite journal| author=Cardoso CC, Pereira AC, Brito-de-Souza VN, Dias-Baptista IM, Maniero VC, Venturini J et al.| title=IFNG +874 T>A single nucleotide polymorphism is associated with leprosy among Brazilians. | journal=Hum Genet | year= 2010 | volume= 128 | issue= 5 | pages= 481-90 | pmid=20714752 | doi=10.1007/s00439-010-0872-x | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20714752 }} </ref> | ||
* Low occurrence of a ''lymphotoxin-α-producing'' [[allele]]. | * Low occurrence of a ''lymphotoxin-α-producing'' [[allele]]. | ||
* Vitamin D receptor gene. | * Vitamin D receptor gene. | ||
Revision as of 00:55, 7 July 2014
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: João André Alves Silva, M.D. [2]
Overview
Pathogenesis
Genetics
The infection by the mycobacterium leprae and the course of the disease are influenced by certain genetic factors of the host.[1][2] Some single-nucleotide polymorphism have been associated with a higher incidence of leprosy. These include:[1][3][4][5][6]
- Low occurrence of a lymphotoxin-α-producing allele.
- Vitamin D receptor gene.
- TNF-α gene.
- IL-10 gene.
- IFN-γ gene.
- TLR 1 gene.
Another study has also suggested a possible relationship between genetic variants of the NOD2 gene and increased susceptibility to leprosy and the development of type I and II reactions.[7]
Associated Conditions
Gross Pathology
Microscopic Pathology
Reactions
Pathophysiology
References
- ↑ 1.0 1.1 Bhat, Ramesh Marne; Prakash, Chaitra (2012). "Leprosy: An Overview of Pathophysiology". Interdisciplinary Perspectives on Infectious Diseases. 2012: 1–6. doi:10.1155/2012/181089. ISSN 1687-708X.
- ↑ Alter A, Alcaïs A, Abel L, Schurr E (2008). "Leprosy as a genetic model for susceptibility to common infectious diseases". Hum Genet. 123 (3): 227–35. doi:10.1007/s00439-008-0474-z. PMID 18247059.
- ↑ Alcaïs A, Alter A, Antoni G, Orlova M, Nguyen VT, Singh M; et al. (2007). "Stepwise replication identifies a low-producing lymphotoxin-alpha allele as a major risk factor for early-onset leprosy". Nat Genet. 39 (4): 517–22. doi:10.1038/ng2000. PMID 17353895.
- ↑ Mira MT, Alcais A, di Pietrantonio T, Thuc NV, Phuong MC, Abel L; et al. (2003). "Segregation of HLA/TNF region is linked to leprosy clinical spectrum in families displaying mixed leprosy subtypes". Genes Immun. 4 (1): 67–73. doi:10.1038/sj.gene.6363911. PMID 12595904.
- ↑ Correa-Oliveira, Rodrigo; Misch, Elizabeth A.; Macdonald, Murdo; Ranjit, Chaman; Sapkota, Bishwa R.; Wells, Richard D.; Siddiqui, M. Ruby; Kaplan, Gilla; Hawn, Thomas R. (2008). "Human TLR1 Deficiency Is Associated with Impaired Mycobacterial Signaling and Protection from Leprosy Reversal Reaction". PLoS Neglected Tropical Diseases. 2 (5): e231. doi:10.1371/journal.pntd.0000231. ISSN 1935-2735.
- ↑ Cardoso CC, Pereira AC, Brito-de-Souza VN, Dias-Baptista IM, Maniero VC, Venturini J; et al. (2010). "IFNG +874 T>A single nucleotide polymorphism is associated with leprosy among Brazilians". Hum Genet. 128 (5): 481–90. doi:10.1007/s00439-010-0872-x. PMID 20714752.
- ↑ Berrington WR, Macdonald M, Khadge S, Sapkota BR, Janer M, Hagge DA; et al. (2010). "Common polymorphisms in the NOD2 gene region are associated with leprosy and its reactive states". J Infect Dis. 201 (9): 1422–35. doi:10.1086/651559. PMC 2853728. PMID 20350193.