A Polymorphism in the Chitotriosidase Gene Associated with Risk of Mycetoma Due to Madurella mycetomatis Mycetoma--A Retrospective Study

PLoS Neglected Tropical Diseases
Patricia E B VerwerWendy van de Sande

Abstract

Madurella mycetomatis is the most prevalent causative agent of eumycetoma in Sudan, an infection characterized by the formation of grains. Many patients are exposed to the causative agent, however only a small number develop infection. M. mycetomatis contains chitin in its cell wall, which can trigger the human immune system. Polymorphisms in the genes encoding for the chitin-degrading enzymes chitotriosidase and AMCase were described, resulting in altered chitinase activity. We investigated the association between 4 of these polymorphisms and the incidence of M. mycetomatis mycetoma in a Sudanese population. Polymorphisms studied in 112 eumycetoma patients and 103 matched controls included a 24-bp insertion in the chitotriosidase gene (rs3831317), resulting in impaired chitinase activity and single nucleotide polymorphism (SNP) in the AMCase gene (rs61756687), resulting in decreased AMCase activity. Also, a SNP (rs41282492) and a 10-bp insertion in the 5'UTR region of the AMCase gene (rs143789088) were studied, both resulting in increased AMCase activity. DNA was isolated from blood and genotypes were determined using PCR-RFLP. Histological staining proved the presence of chitin in the fungal grain. The polymorphism resulting ...Continue Reading

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Citations

Feb 18, 2016·Enzyme Research·Mohamed A ElmonemElena N Levtchenko
May 29, 2018·Clinical and Experimental Dermatology·P Verma, A Jha
May 1, 2020·PLoS Neglected Tropical Diseases·Rayan S AliAhmed Hassan Fahal
Aug 12, 2018·Annals of Clinical Microbiology and Antimicrobials·Pembi EmmanuelKenji Hirayama
Apr 9, 2020·PLoS Neglected Tropical Diseases·Gerard SheehanWendy W J van de Sande
Oct 11, 2017·Medical Mycology·Wendy van de SandeUNKNOWN eumycetoma working group
Jan 24, 2021·Transactions of the Royal Society of Tropical Medicine and Hygiene·Rowa Fathelrahman OmerAhmed Hassan Fahal
Feb 14, 2021·Transactions of the Royal Society of Tropical Medicine and Hygiene·M KébéA Fahal
Mar 18, 2021·Transactions of the Royal Society of Tropical Medicine and Hygiene·Rita Okeoghene OladeleWendy W J van de Sande
Jun 10, 2017·Microbiology Spectrum·Julia R KöhlerJohn R Perfect

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Methods Mentioned

BETA
Genotyping
PCR

Software Mentioned

GraphPad Prism

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