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Human genetics of Buruli ulcer.
Human Genetics ( IF 3.8 ) Pub Date : 2020-04-07 , DOI: 10.1007/s00439-020-02163-1
Jeremy Manry 1, 2
Affiliation  

Buruli ulcer, the third most common mycobacterial disease worldwide, is caused by Mycobacterium ulcerans and characterized by devastating necrotizing skin lesions. Susceptibility to Buruli ulcer is thought to depend on host genetics, but very few genetic studies have been performed. The identification of a microdeletion on chromosome 8 in a familial form of severe Buruli ulcer suggested a monogenic basis of susceptibility. The role of common host genetic variants in Buruli ulcer development has been investigated in only three candidate-gene studies targeting genes involved in mycobacterial diseases. A recent genome-wide association study suggested a probable role for long non-coding RNAs and strengthened the contribution of autophagy as a major defense mechanism against mycobacteria. In this review, we summarize the history, epidemiological and clinical aspects of Buruli ulcer, focusing particularly on genetic findings relating to susceptibility to this disease. Finally, we discuss exciting new genetic avenues arising, in particular, from studies of mouse models, and the need for different disciplines to work together, to benefit from the extensive work on other mycobacterial diseases, mostly tuberculosis and leprosy. We are convinced that such pooling of effort will lead to the development of efficient novel strategies for combatting Buruli ulcer.



中文翻译:

布鲁氏溃疡的人类遗传学。

布鲁氏溃疡是世界上第三大最常见的分枝杆菌疾病,由溃疡分枝杆菌引起并具有破坏性坏死性皮肤病变的特征。布鲁氏溃疡的易感性被认为取决于宿主的遗传学,但是很少进行遗传学研究。家族性严重布鲁氏溃疡的第8号染色体微缺失的鉴定提示了易感性的单基因基础。仅针对针对分枝杆菌疾病相关基因的三项候选基因研究,研究了常见宿主遗传变异在布鲁氏溃疡发展中的作用。最近的全基因组关联研究表明,长的非编码RNA可能发挥作用,并增强了自噬作为抗分枝杆菌的主要防御机制的作用。在这篇综述中,我们总结了布鲁氏溃疡的病史,流行病学和临床方面,特别关注与该疾病易感性有关的遗传发现。最后,我们讨论了令人兴奋的新遗传途径,特别是由于小鼠模型的研究以及不同学科共同努力的需要,以便从其他分枝杆菌疾病(主要是结核病和麻风病)的广泛研究中受益。我们坚信,这种共同努力将导致抗击布鲁里溃疡的有效新策略的发展。

更新日期:2020-04-07
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