Focal dermal hypoplasia: abnormal growth characteristics of skin fibroblasts in culture.
Focal dermal hypoplasia: abnormal growth characteristics of skin fibroblasts in culture.
复制标题
局灶性真皮发育不全：培养物中皮肤成纤维细胞的异常生长特征。
DOI：
10.1111/1523-1747.ep12522586
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发表时间：
1980
期刊：
影响因子：
--
通讯作者：
Eisen,AZ
中科院分区：
文献类型：
--
作者：
Uitto,J;Bauer,EA;Santa-Cruz,DJ;Loewinger,RJ;Eisen,AZ
局灶性真皮发育不全是一种影响皮肤、骨骼、眼部和牙齿结构的遗传性疾病。在组织学上，皮肤病变的特征是真皮结缔组织显著减少。从皮肤病变和未受影响的皮肤与局灶性皮肤发育不全的患者的成纤维细胞培养物被用来评估这些细胞的生长特性，以及潜在的胶原蛋白，皮肤成纤维细胞的主要细胞外基因产物的代谢异常。受影响的皮肤细胞的特征是生长潜力明显受损，平均群体倍增时间是对照的两倍，最终饱和密度是对照培养物的五分之一。相差显微镜显示，从皮肤病变来源的成纤维细胞是惊人的异常，其特征是一个大的颗粒状细胞质与细胞质空泡。尽管有这些发现，胶原蛋白的合成率，测量的形成[3 H]羟脯氨酸的DNA和细胞蛋白质是不受干扰的局灶性真皮发育不全。此外，相对合成的遗传不同的前胶原蛋白的I型和III型，分离的DEAE-纤维素色谱法，在受影响的细胞株中是不变的。这些研究结果表明，虽然个别成纤维细胞的胶原蛋白的合成是正常的，在细胞动力学的异常可能有相关的胶原蛋白和其他结缔组织成分的真皮局灶性真皮发育不全的情况下。
Focal dermal hypoplasia is an inherited disease affecting the skin, bones, ocular and dental structures. Histologically, the skin lesions are characterized by a marked decrease in dermal connective tissue. Fibroblast cultures initiated from both the skin lesions and the unaffected skin from a patient with focal dermal hypoplasia were used to assess the growth characteristics of these cells as well as potential abnormalities in the metabolism of collagen, the major extracellular gene product of skin fibroblasts. Cells from affected skin were characterized by a markedly compromised growth potential with a mean population doubling time twice that of the controls and a final saturation density of one-fifth that of control cultures. Phase contrast microscopy revealed that fibroblasts derived from the skin lesions were strikingly abnormal and characterized by a large granular cytoplasm with cytoplasmic vacuoles. Despite these findings, the rate of collagen synthesis, measured as the formation of [3H]hydroxyproline in relation to DNA and cell protein was undisturbed in focal dermal hypoplasia. Furthermore, the relative synthesis of genetically distinct pro-collagens of type I and III, isolated by DEAE-cellulose chromatography, was unaltered in the affected cell strains. These findings indicate that, although the synthesis of collagen by individual fibroblasts is normal, an abnormality in cell kinetics may have relevance to the absence of collagen and other connective tissue components of the dermis in focal dermal hypoplasia.