Bauer E A
J Invest Dermatol. 1982 Jul;79 Suppl 1:105s-108s. doi: 10.1111/1523-1747.ep12545885.
In order to correlate a characteristic clinical phenotype with biochemical abnormalities in recessive dystrophic epidermolysis bullosa, fibroblast cultures were established from 4 typical patients with the severe form of the disease. Collagenase, the enzyme implicated in the pathogenesis of blistering, was present in vitro in 2- to 4-fold greater concentrations than in control fibroblast cultures. Partially purified preparations of this enzyme displayed marked thermal lability and diminished affinity for Ca2+, a metal cofactor, suggesting the existence of a mutant enzyme. The data suggest that these 3 biochemical abnormalities, increased synthesis, decreased thermal stability and diminished affinity for Ca2+, should serve as reliable in vitro markers for genetic discrimination of recessive dystrophic epidermolysis bullosa.
为了将特征性临床表型与隐性营养不良性大疱性表皮松解症中的生化异常联系起来，我们从4名患有严重形式该病的典型患者身上建立了成纤维细胞培养物。胶原酶，这种与水疱形成发病机制有关的酶，在体外的浓度比对照成纤维细胞培养物中高2至4倍。该酶的部分纯化制剂表现出明显的热不稳定性，并且对金属辅因子Ca2+的亲和力降低，这表明存在突变酶。数据表明，这三种生化异常，即合成增加、热稳定性降低和对Ca2+的亲和力降低，应作为隐性营养不良性大疱性表皮松解症基因鉴别的可靠体外标志物。
