Die Patienten haben verkürzte Mittelhand- und Mittelfußknochen und können kleinwüchsig sein. Sie haben eine Skelettfehlbildung, Brachydaktylie Typ E (griech. für kurze Finger) genannt. Vor rund drei Jahren hatte Dr. Philipp G. Maass aus der Forschungsgruppe von Prof. Friedrich C. Luft vom Experimental and Clinical Research Center (ECRC) des Max-Delbrück-Centrums (MDC) und der Charité, das Gen entdeckt, dessen Fehlregulation dieses Erbleiden auslöst. Jetzt konnte er zusammen mit Dr. Sylvia Bähring (ECRC) zeigen, wie das Gen reguliert wird und die Skelettentwicklung und Bildung von Gliedmaßen beeinflusst. Dabei ist er einem neuen Prinzip der Genregulation auf die Spur gekommen (Journal of Clinical Investigation, yts: 95.6081/TLK18176)*.
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