0000000000004467
AUTHOR
Alfred Karbowski
Clinical and ultrastructural findings in three patients with geleophysic dysplasia
Geleophysic dysplasia, a rare disorder with autosomal-recessive inheritance, is characterized by short stature with a “happy-looking” facial appearance. Nonskeletal findings, particularly in an advanced stage, include hepatosplenomegaly and valvular cardiopathy. Based on the clinical picture and the detection of lysosome-like inclusions in hepatocytes, the underlying cause of the condition is considered to be a storage defect in the metabolism of glycoproteins. The clinical course, with progressive worsening of the condition favors this hypothesis. We report on 3 further cases, in which light and electron microscopic studies of iliac crest biopsies and cultured skin fibroblasts provided add…
Complexity of IL-1β induced gene expression pattern in human articular chondrocytes
The mRNA fingerprinting technique, differential display reverse transcription polymerase chain (DDRT-PCR), was used to detect changes in the overall pattern of gene expression in human articular knee chondrocytes-induced by interleukin-1 beta (IL-1 beta), the prototypical inducer of catabolic responses in degenerate joint diseases. One hundred different primer combinations generated approximately 10,000 different PCR fragments for IL-1 beta treated, as well as for untreated human chondrocytes, cultivated in alginate beads. This represented 53% of all expressed chondrocyte genes as based on statistical considerations. Side by side comparisons of differential display patterns originating from…
Differential display reverse transcription PCR reveals IL-1 induced gene expression patterns in human articular chondrocytes
IL-1 exerts diverse effects on the metabolism of articular chondrocytes, including inhibition of proteoglycan synthesis and stimulation of matrix metallopro teinase synthesis. Therefore it is believed that IL-1 might play an important role in cartilage degradation in osteo- and rheumatoid arthritis. To improve our understanding of IL-1 induced effects on overall gene expression patterns of human articular chondrocytes, wc used a novel mRNA fingerprinting technique: Differential Display Reverse Transcription-PCR (DDRT-PCR) (Liang and Pardee 1992). The reported high sensitivity of this powerful technique promised to enable work with human articular cartilage, a tissue from which only small am…