Schallreuter K U, Pittelkow M R
Department of Dermatology, University of Hamburg, Federal Republic of Germany.
Arch Dermatol Res. 1989;281(1):40-4. doi: 10.1007/BF00424271.
Cell cultures of keratinocytes, established from four Hermansky-Pudlak syndrome (HPS) homozygotes yielded low membrane-associated thioredoxin reductase activities compared with normal healthy adult controls. This low activity has been shown to be caused by a special sensitivity of the enzyme to calcium. 45Calcium has been used to compare the kinetics for the transport and bioaccumulation of this regulatory cation in keratinocyte cultures of a kindred with HPS (i.e., one HPS homozygote, one HPS obligate heterozygote, one normal family member, and healthy adult controls). The results show that both HPS-homozygous and -heterozygous cells bind more extracellular calcium than noncarriers of this genetic defect, and HPS homozygous cells appear to have a defective calcium transport system.
从四名Hermansky-Pudlak综合征（HPS）纯合子建立的角质形成细胞培养物与正常健康成人对照相比，产生的膜相关硫氧还蛋白还原酶活性较低。已证明这种低活性是由该酶对钙的特殊敏感性引起的。45钙已被用于比较这种调节性阳离子在一个HPS家族的角质形成细胞培养物（即一名HPS纯合子、一名HPS obligate杂合子、一名正常家族成员和健康成人对照）中的转运和生物积累动力学。结果表明，HPS纯合子和杂合子细胞比这种遗传缺陷的非携带者结合更多的细胞外钙，并且HPS纯合子细胞似乎具有有缺陷的钙转运系统。
