Severe influence of intrinsic mutations

2002/05/01 Elhuyar Zientzia Iturria: Elhuyar aldizkaria

• Genetika

The mutations that occur inside Intron have also discovered their influence on the cutting process at the International Center for Biotechnology and Genetic Engineering of the Italian city of Trieste.

Introns are ‘crazy’ parts within genes. They consist of sequences of bases that are repeated thousands of times and that are eliminated in the process of protein synthesis. The removal process is called logging.

As Intron makes no sense, so far it was thought that the mutations produced there had no influence, but now they have discovered that the opposite can occur. A patient with a degenerative nervous system disease known as ataxia telangiectasia had genetic tests and found four base pairs in an intron of the gene that caused it. This deficiency prevents cutting enzymes from knowing the introne and instead of removing the molecule stays in the chain. Hence the defective messenger RNA and disease development arise.

According to scientists, this discovery represents a step forward in the knowledge of the mechanisms of identification and cutting introns.