Introduction

Use of variants of the human ATM protein or derivatives thereof, for the treatment or prevention of genetic diseases linked to at least one ATM gene mutation (for example Ataxia Telangiectasia AT), by means of coding expression vectors the aforementioned variants of ATM or its derivatives.

Technical features

Naturally present in human cells, the splice variants of ATM greatly reduce the size of the protein itself, while maintaining some functionality. The development from scratch of a small variant, called ATM SINT, has been shown to be efficient in recovering the missing functions of cellular models of A-T, and can potentially be used in patients with mutations in the ATM gene via gene therapy. ATM SINT itself can be administered in combination with other natural variants to complement the gaps typical of the latter. Different types of SINT ATMs can be used for this purpose.

Possible Applications

• Use of ATM SINT and derivatives in gene therapy through the most varied vectors;
• Use of ATM SINT and derivatives in gene/mRNA delivery via nanoparticles or vesicles;
• Protein use of ATM SINT via delivery via nanoparticles or vesicles.

Advantages

• The DNA or mRNA coding for ATM SINT is extremely small in size;
• Increase in the efficiency of any treatment;
• Small size of coding sequences;
• Optimal for delivery via non-viral vectors.