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Tyrolean researchers discover the neurofibrillary gene

Tyrolean researchers discover the neurofibrillary gene

For the first time it was possible to decipher the molecular structure of neurofibromin.

It appears that researchers at the Medical University of Innsbruck have gained important insights into the fight against hereditary neurofibromatosis. MedUni announced in a broadcast Thursday, in collaboration with scientists from Stockholm University, that it is possible for the first time to decipher the molecular structure of the neurofibromin with high accuracy.

She added that the findings, published in the journal “Nature” will take research in neurofibromatosis a big step forward. The rare, genetically determined disease leads to nerve tumor formation in early childhood and affects about 4,000 people in Austria.

To determine the structure, the scientists used a technique that has revolutionized structural biology in recent years: the cryoEM method. Changes in a neurofibromatosis important to tumor suppressor protein through mutations in the NF1 gene are the cause of autosomal dominant neurofibromatosis type 1. “Patients with neurofibromatosis present with a variety of symptoms, often caused by benign tumors or Malignant in structural biologist Bernhard Robb, who is conducting research at the Institute of Genetic Epidemiology, and who, together with his former colleague Andreas Nachberger, played a leading role in the knowledge gained: the skin and the nervous system, which can already appear in childhood,” explained the structural biologist Bernhard Robb.

“With a birth rate of 1: 3000, neurofibromatosis is one of the most common genetic diseases, and an understanding of the molecular mechanisms of this disease is a prerequisite for the development of therapeutic methods and effective ingredients,” the scientist emphasized. Neurofibromin is said to be mutated in five to ten percent of all spontaneously occurring tumors, and as a direct regulator of so-called proto-oncogene RAS, a protein that causes cancerous growth if improperly regulated, it has also moved into the focus of cancer research.

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