Mental retardation, altered facial characteristics, and heart problems are all problems suffered by children affected by Costello syndrome, a genetic disease that is being studied by researchers in Milan at the Italian Foundation for Cancer Research (FIRC) Institute of molecular oncology (IFOM) using the zebrafish as a model.
The cause of the disease – explained the scientists in the January issue of ‘Disease Models & Mechanisms’ monthly magazine – is a mutation of the Ras gene, the same alteration observed in 20pct of tumors. One out of every five cases of cancer and the rare genetic disease have a common thread.
The credit for the discovery also goes to the zebrafish, an important animal among the most popular in laboratories worldwide, since it is versatile, transparent, and mainly, genetically similar to humans. The mutation of the Ras gene responsible for the Costello syndrome – according to a study supported by the Italian Association for Cancer Research (AIRC) – is manifested in the patient’s germ cells.
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