β Scribed by Philippe Arnaud
No coin nor oath required. For personal study only.
During the Fifth Conference of the International Society for Trace Element Research, whose subject was: "New Aspects of Trace Element Research," a whole session was devoted to the genetic aspects of this research. Several presentations were made, and eight of them are found in this section as peer-reviewed articles.
In the first presentation, Bost et al. reported results on the heterogeneity of the cDNAs encoding for Ceruloplasmin. A series of data, including Southern blotting, suggest a duplication of the ceruloplasmin gene on chromosome 3. Bost et al., in a second presentation, reported a detailed study of the abnormalities found in the copper transporting ATPase associated with Wilson's disease. The combined use of microsatellite markers, SSCP and sequencing allowed to identify nine mutations, of which four were novel. Hom and Tumer studied the molecular genetics of intracellular copper transport. The delicate balance between delivery of copper and its excretion is disturbed in genetic disorders such as Wilson's disease, Menkes' disease, and the mutations responsible for a malfunction of the copper export pumps are now studied in detail. The next presentation by Me Β΄plan and Hainaut reported an update on the regulation of the tumor-suppressor protein p53, which is stabilized by binding of Zn.
In vitro experiments indicate that displacement of Zn with Cadmium inactivates the protein which cannot respond to DNA damage. The presentation by Harris et al. studied mRNA structures related to the Menkes' sequence in detail. Splice variants were found in all cell lines, suggesting that alternative splicing of this gene could lead to several proteins playing a role in copper trafficking within cells. Loudianos et al. reported an extensive study performed in 295 patients with Wilson's disease, in which 102 mutations have been found. The clinical implications of these findings were presented. Hemochromatosis was the subject of the presentation by V. David. The different mutations of the HFE protein were discussed as markers of the disease, but the presence of other genetic factors is likely. These mutations may affect the interaction of the HFE protein with membrane components including b2-microglobulin and transferrin receptor. Finally, the presentation by M. Solioz studied the regulation of copper metabolism in bacteria, and the role of the Cop operon, which codes for four This section of the journal will hopefully be of great interest for the reader. The first part illustrates the interplay of molecular genetics in basic sciences and clinical applications. The second part illustrates the impact of trace elements in clinical practice. I thank the authors for outstanding contributions.
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