Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations
Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations
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DOI：
10.1111/j.1365-2133.2010.09745.x
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发表时间：
2010-07-01
影响因子：
10.3
通讯作者：
Shimizu, H.
中科院分区：
文献类型：
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作者：
Akiyama, M.;Sakai, K.;Shimizu, H.
先天性鱼鳞样红皮病（CIE） （OMIM 242100）是常染色体隐性先天性鱼鳞病（ARCI）的一种主要类型，表现为全身脱屑和红皮病，无水疱形成编码12r -脂氧合酶（LOX）的ALOX12B基因（OMIM 603741）于2002年在CIE患者中发现突变。迄今为止，在CIE家族中已经报道了几个ALOX12B突变LOXs是一个非血红素含铁双加氧酶家族，它催化具有一个或多个（Z，Z）-1,4-戊二烯基团的脂肪酸的双加氧人类LOX家族的三个成员，15-LOX-2、12R-LOX和eLOX-3，优先在皮肤中表达12R-LOX途径导致hepoxilin B3和trioxilin B37产生20-羧基trioxilin A3,5被认为是皮肤中的关键生物调节剂。12R-LOX缺乏在人类和小鼠中导致CIE表型我们报道了一名日本CIE患者，携带一种先前未报道的ALOX12B突变p.Arg442Gln和另一种已知突变p.Arg432X，显示表皮层状颗粒（LG）含量分泌部分紊乱。
Congenital ichthyosiform erythroderma (CIE) (OMIM 242100) is a major type of autosomal recessive congenital ichthyosis (ARCI) showing generalized scaling and erythroderma without blister formation.1 Mutations in ALOX12B (OMIM 603741), encoding 12R-lipoxygenase (LOX), were identified in patients with CIE in 2002. 2 To date, several ALOX12B mutations have been reported in CIE families.3,4 LOXs are a family of nonhaem, iron-containing dioxygenases which catalyse dioxygenation of fatty acids with one or more (Z,Z)-1,4-pentadiene moieties.5 Three members of the human LOX family, 15-LOX-2, 12R-LOX and eLOX-3, are preferentially expressed in the skin.5,6 The 12R-LOX pathway leads to hepoxilin B3 and trioxilin B37 resulting in 20-carboxy-trioxilin A3,5 which is thought to be a key biological regulator in the skin.8 12R-LOX deficiency results in a CIE phenotype in humans2,9,10 and in mice.11,12 We report that a Japanese patient with CIE, harbouring one previously unreported ALOX12B mutation p.Arg442Gln and another known mutation p.Arg432X, showed partially disturbed secretion of lamellar granule (LG) contents in the epidermis.