ISSN:
1432-069X
Keywords:
Hermansky-Pudlak syndrome
;
Calcium
;
Free radicals
;
Keratinocyte cell cultures
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Summary 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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00424271
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