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New mutation causing tumours in the endocrine system

March 16, 1999

The so-called MEN1 (Multiple Endocrine Neoplasia 1) syndrome is an hereditary disease characterised by the formation of benign and cancerous tumours in various organs of the endocrine system, which affects one person in every 10,000. The growth of these tumours has an effect on the levels of hormone secretion and can cause stomach ulcers, diabetes, infertility and even death.

By locating the genetic mutations which cause the disease, it is possible to carry out a genetic diagnosis long before the symptoms appear, thus allowing therapy to be given in order to prevent the development of tumours. Until now, all the genetic mutations characteristic of MEN1 had been located in two of the ten sections (exons) making up a certain gene (now known as MEN1), found in chromosome 11. To be precise, the above-mentioned mutations were located in exons 2 and 3 of the gene.

However, researchers had detected sporadic cases of patients with the MEN1 syndrome who did not present these mutations. By analysing the genetic mutations in such kind of patients, a group of researchers specialising in MEN syndrome from the Universitat Autònoma de Barcelona and the Hospital de Sant Pau in Barcelona has discovered a new mutation in exon 5 of the MEN1 gene which also causes the syndrome. The researchers concerned have analysed exons 5 and 6 in a family consisting of five members, two of whom have the MEN1 syndrome without presenting mutations in exons 2 and 3 of the gene. The researchers have observed a mutation in exon 5 in those members of the family affected by the syndrome, but no such mutation in the healthy members of the family.

The discovery, which was recently published in Journal of Molecular Medicine, has led the team of researchers to consider that a thorough study of the MEN1 gene is necessary, a task which could be very laborious using the PCR technique (the one currently used to obtain the sequences of data contained in the DNA of the gene). The scientists from the UAB and the Hospital de Sant Pau maintain that this task could be very much simplified by using a technique to detect mutations, which has been developed in recent years by German researchers, and which is based on a study of the proteins coded by the gene to be analysed.

The research project is coordinated by Professor Alberto de Leiva, and the research team includes, among others, Francisco Blanco, José Rodr'�guez, Xavier Mat'�as-Guiu, Eugenia Mato and Ana Chico.

Corresponding author:

Dr Alberto de Leiva
Professor of Medicine
Universitat Autònoma de Barcelona
Head of the Endocrinology and Nutrition Service
Hospital de la Santa Creu i Sant Pau
Barcelona
Spain
Tel.: (+34) 93 291 90 42
Fax: (+34) 93 291 92 70

Barcelona, Universitat AutÃ�noma de

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