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首页> 外文期刊>Journal of dermatological science >Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis
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Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis

机译：常染色体隐性遗传性先天性鱼鳞病的最新进展：使用头发样本进行mRNA分析是进行遗传诊断的有力工具

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Research on the molecular genetics and pathomechanisms of autosomal recessive congenital ichthyosis (ARCI) has advanced considerably and several causative genes and molecules underlying the disease have been identified. Three major ARCI phenotypes are harlequin ichthyosis (HI), lamellar ichthyosis (LI), and congenital ichthyosiform erythroderma (CIE): Skin barrier defects are involved in the pathogenesis of ARCI. In this review, the causative genes of ARCI and its phenotypes as well as recent advances in the field are summarized. The known causative molecules underlying ARCI include ABCA12, TGM1, ALOXE3, ALOX12B, NIPAL4, CYP4F22, PNPLA1, CERS3, and LIPN. It is important to examine genetic associations and to elucidate the pathomechanisms of ARCI to establish effective therapies and beneficial genetic counseling. Next-generation sequencing is a promising method that enables the detection of causative disease mutations, even in cases of unexpected concomitant genetic diseases. For genetic diagnosis, obtaining mRNA from hair follicle epithelial cells, which are analogous to keratinocytes in the interfollicular epidermis, is convenient and minimally invasive in patients with ARCI. We confirmed that our mRNA analysis method using hair follicle samples can be applied not only to keratinization disorders, but also to other genetic diseases in the dermatology field. Studies that suggest potential next-generation therapies using ARCI model mice are also reviewed. (C) 2015 Japanese Society for Investigative Dermatology. Published by Elsevier Ireland Ltd. All rights reserved.
机译：常染色体隐性遗传性先天性鱼鳞病（ARCI）的分子遗传学和致病机理的研究已取得相当大的进展，并且已经确定了该病的几种致病基因和分子。 ARCI的三种主要表型为丑角鱼鳞病（HI），层状鱼鳞病（LI）和先天性鱼鳞状红皮病（CIE）：皮肤屏障缺陷与ARCI的发病机制有关。本文综述了ARCI的致病基因及其表型，以及该领域的最新进展。构成ARCI的已知致病分子包括ABCA12，TGM1，ALOXE3，ALOX12B，NIPAL4，CYP4F22，PNPLA1，CERS3和LIPN。重要的是检查遗传关联并阐明ARCI的发病机制，以建立有效的治疗方法和有益的遗传咨询。下一代测序是一种有前途的方法，即使在意外的伴随遗传疾病的情况下，也能够检测出致病性疾病突变。为了进行遗传诊断，从毛囊上皮细胞中获得与小泡间表皮中的角质形成细胞类似的mRNA，对于ARCI患者来说是方便且微创的。我们证实，我们使用毛囊样品进行的mRNA分析方法不仅可以应用于角化疾病，还可以应用于皮肤病学领域的其他遗传疾病。还建议了使用ARCI模型小鼠进行潜在的下一代疗法的研究。 （C）2015年日本皮肤病研究学会。由Elsevier Ireland Ltd.发布。保留所有权利。

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