Forum for Nordic Dermato-Venereologica | Page 24

Dermato-Venereology in the Nordic Countries Looking Back on 45 Years of Research Activity ANDERS VAHLQUIST Department of Dermatology, Uppsala University Hospital, SE-751 85 Uppsala, Sweden. E-mail: anders.vahlquist@medsci.uu.se It all started in 1969, when I interrupted medical school at Uppsala University for 3 years, starting as a PhD student at the Department of Medical and Physiological Chemistry (Fig. 1). My tutor had recently puri?ed a vitamin A transporting low-molecular weight protein from human urine that turned out to be identical to the retinol-binding protein (RBP) concurrently discovered at Columbia University. My task was to ?nd a more ef?cient way to purify RBP and to characterise its turnover in humans by injecting small amounts of radiolabelled protein into the blood stream. Turnover studies in healthy volunteers (including myself) showed a very short half-life of RBP, whereas in haemodialysis patients the half-life was markedly prolonged. This is consistent with a physiological model whereby the free fraction of plasma RBP – unbound to its complex partner thyroxine-binding prealbumin – is easily ?ltrated through the glomeruli and subsequently reabsorbed in the tubuli. This model explains why chronic renal failure leads to an accumulation of RBP (and vitamin A) in blood, whereas tubular necrosis yields proteinuria containing high amounts of RBP. My thesis in 1972 encouraged future studies on the transport and function of vitamin A, an exciting research ?eld not least in the mid 70s when cellular binding proteins for both retinol and retinoic acid were discovered and new retinoid analogues were being synthesised as promising remedies for both cancer, acne and certain disorders of keratinisation. No wonder I got interested in dermatology when choosing specialist training in 1976, especially as Professors Lennart Juhlin and Gerd Michaëlsson at the skin clinic in Uppsala were already pursuing research on vitamin A and zinc, and previous Swedish researchers had shown spectacular results of high-dose vitamin A therapy in a rare genodermatosis (Fig. 2). My aim was to establish a technique for measuring vitamin A levels in the skin and to screen patients with keratinising disorders, looking for abnormalities in the cutaneous vitamin A composition that might be related to the pathogenesis of the diseases and explain the frequent therapeutic success with high-doses of vitamin A or synthetic retinoids. A new method called high-pressure liquid chromatography (HPLC) turned out to be a breakthrough in analysing minute amounts of retinoids in tissue extracts. Thus, in a super?cial shave biopsy it became possible to detect as little as 1 ng of 142 retinol in epidermis. Other retinoids were also separated on the HPLC column and could subsequently be collected from the out?ow. This approach enabled me to identify a totally unanticipated form of vitamin A in human skin, viz. 3,4-didehydroretinol or vitamin A2. High amounts of this compound, previously known to occur in certain amphibians, were found in biopsies from psoriatic and Darier disease skin, possibly indicating abnormal vitamin A signalling in diseased keratinocytes. In the beginning of the 1980s, together with 3 PhD students, Ola Rollman, Berit Berne and Hans Törmä, our studies were focused on the tissue distribution of both natural and synthetic retinoids in normal and diseased skin, on the interaction between UV irradiation and retinoids, and on the metabolism of retinol in cultured cells involving its delivery via RBP receptors to keratinocytes and subsequent transformation into 3,4-didehydroretinol, retinyl esters and retinoic acid. Although much was learnt from these studies, and our achievements were grati?ed with several reseach awards (Fig. 3), our main hypothesis that inborn errors of vitamin A metabolism might explain certain disorders of keratinisation was never veri?ed. Fig. 1. Experimenting as PhD-student in 1969 at the Department of Medical and Physiological Chemistry, Uppsala University. Forum for Nord Derm Ven 2013, Vol. 18, No. 4