Peutz-Jeghers Disease Gene Identified: Enzyme Loss Causes Polyps And Cancer

Scientists at the Max-Planck-Institute of Neurobiology in Martinsried and at the University Hospital of Wrzburg in collaboration with their clinical colleagues have unravelled the molecular cause of Peutz-Jeghers syndrome. This rare autosomally inherited disease is characterized by gastrointestinal polyps, brown melanin spots around the lips, and a high risk for various tumors. Their data have been published as an article in Nature Genetics on January 1, 1998. Another international team of scientists reported mutations in the same gene in Peutz-Jeghers families in a letter to Nature on January 8, 1998.

Peutz-Jeghers syndrome was first described by Peutz (1921) and Jeghers (1949), but the genetic and biological basis for this unusual combination of symptoms remained a mystery until very recently. The typical dark brown melanin spots on the lips and around the mouth are easily recognized during childhood, but can fade during adolescence. A serious life-threatening feature of this disease are various tumors which can develop in the gastrointestinal tract, pancreas, ovaries, testis, breast and uterus. The growth of benign hamartomatous tissue appears to be the basis for the later development of malignant neoplasms.

Peutz-Jeghers syndrome is inherited in affected families, but can also appear sporadically. The first step to identify the molecular cause was made exactly one year ago when the responsible genetic factor was located on the tip of the short arm of chromosome 19. Affected individuals in several different families all shared the same chromosomal DNA segment around the anonymous DNA marker D19S886. Over the last few years, Dieter Jenne from the Max-Planck-Institute of Neurobiology and Michael Zimmer from the University of Wrzburg, in a collaboration with the Lawrence Livermore National Laborato

Contact: Dieter Jenne

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