The role of genetic factors in familial case of acne

IF 0.2 Q4 MEDICINE, GENERAL & INTERNAL

Bulletin of Russian State Medical University Pub Date : 2022-05-01 DOI:10.24075/brsmu.2022.026

O. Demina, A. Rumyantsev, NN Potekaev

引用次数: 0

Abstract

Acne is one of the most common dermatoses. A prominent genetic component for this disease has been reported and the manifestation in first-line relatives is considered an important risk factor. Here we present a clinical case illustrating the relevance of particular genetic polymorphisms mapped to NCF1, CD3E, ORAI1, IGHM and TAZ in patients with severe forms and burdened family history of the disease. Genetic examination identified the same allelic variants in five candidate target genes (NCF1, CD3E, ORAI1, IGHM and TAZ) in two closely related patients (father and son) with severe acne. The identified genetic configuration may interfere with the oxidase activity and promote defects in mitochondrial function along with reduced T cell proliferation and imbalanced immunoglobulin production. The findings may provide an important reference point for further clinical investigation and treatment of severe torpid dermatoses.

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遗传因素在家族性痤疮中的作用

痤疮是最常见的皮肤病之一。据报道，这种疾病的一个突出的遗传因素，在一线亲属中的表现被认为是一个重要的危险因素。在这里，我们提出了一个临床病例，说明了与NCF1、CD3E、ORAI1、IGHM和TAZ相关的特定遗传多态性在患有严重形式和沉重的家族史的患者中的相关性。遗传检查在两例密切相关的严重痤疮患者(父子)中发现了5个候选靶基因(NCF1、CD3E、ORAI1、IGHM和TAZ)相同的等位基因变异。鉴定的遗传结构可能干扰氧化酶活性，促进线粒体功能缺陷，同时减少T细胞增殖和免疫球蛋白产生不平衡。本研究结果可为进一步临床研究和治疗重症迟钝性皮肤病提供重要参考。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Bulletin of Russian State Medical University MEDICINE, GENERAL & INTERNAL-

CiteScore

0.80

自引率

0.00%

发文量

期刊介绍： Bulletin of Russian State Medical University (Bulletin of RSMU, ISSN Print 2500–1094, ISSN Online 2542–1204) is a peer-reviewed medical journal of Pirogov Russian National Research Medical University (Moscow, Russia). The original language of the journal is Russian (Vestnik Rossiyskogo Gosudarstvennogo Meditsinskogo Universiteta, Vestnik RGMU, ISSN Print 2070–7320, ISSN Online 2070–7339). Founded in 1994, it is issued once every two months publishing articles on clinical medicine and medical and biological sciences, first of all oncology, neurobiology, allergy and immunology, medical genetics, medical microbiology and infectious diseases. Every issue is thematic. Deadlines for manuscript submission are announced in advance. The number of publications on topics in spite of the issue topic is limited. The journal accepts only original articles submitted by their authors, including articles that present methods and techniques, clinical cases and opinions. Authors must guarantee that their work has not been previously published elsewhere in whole or in part and in other languages and is not under consideration by another scientific journal. The journal publishes only one review per issue; the review is ordered by the editors.