New method enables treatment of gene mutations

New method enables treatment of gene mutations

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Breakthrough in the treatment of disorders caused by gene mutations?

A newly developed tool could make it possible to treat gene mutations and the resulting disorders in the future. In this way, numerous diseases could be treated, for which an effective form of treatment has not yet been possible.

The current study by the Salk Institute for Biological Studies found that a novel technology for processing a wide range of mutations in living organisms can be used. The results of the study were published in the English-language journal "Cell Research".

Technology improves the treatment of hereditary diseases

The ability to manipulate genes in living organisms offers the ability to treat a variety of hereditary diseases. However, many types of so-called gene editing tools are unable to target critical areas of DNA, the researchers report. The development of such a technology has been difficult because living tissue contains different cell types. The newly developed tool, called SATI, now enabled the team to edit the mouse genome and targeted a wide range of mutations and cell types. The technology could be expanded for use in a variety of gene mutation conditions such as Huntington's disease and the rare premature aging syndrome progeria.

Prospect of curing a wide range of genetic diseases?

The study showed that SATI is a powerful tool for editing the genome, the researchers explain. The tool could prove helpful to replace different types of mutations with target genes, and open the door to using tools to manipulate genes to cure a wide range of genetic diseases, the team adds.

Researchers focused on the model for premature aging

The researchers wanted to develop a versatile tool to target non-coding regions of DNA that do not affect the function of the gene and enable a wide range of mutations and cell types. To do this, they focused on a mouse model for premature aging that is caused by a mutation that is difficult to repair with the existing genome editing tools. The new method, which the scientists call SATI (Intercellular Linearized Single Homology Arm Donor Mediated Intron-Targeting Integration), is a further development of the previous HITI method in order to be able to address additional areas of the genome.

SATI works by inserting a normal copy of the problematic gene into the non-coding region of the DNA before the mutation site. This new gene is then integrated into the genome alongside the old gene through one of several DNA repair pathways, relieving the organism of the deleterious effects of the original mutant gene without the risk of damage if it is completely replaced, reports the research group in a press release.

Lifespan was increased by 45 percent

The researchers tested the SATI technology on living mice with progeria, which is caused by a mutation in the LMNA gene. Both humans and mice with progeria show signs of premature aging, cardiac dysfunction and a drastically shortened lifespan due to the accumulation of a protein called progerin. A normal copy of the LMNA gene was inserted into the mice using SATI. The team found reduced signs of aging in various tissues, including skin and spleen, and an increase in lifespan. The lifespan of the treated mice was increased by 45 percent compared to untreated animals. If such an extension of life span were to be transferred to humans, it would be more than a decade, the researchers explain. (as)

Author and source information

This text corresponds to the specifications of the medical literature, medical guidelines and current studies and has been checked by medical doctors.


  • Keiichiro Suzuki, Mako Yamamoto, Reyna Hernandez-Benitez, Zhe Li, Christopher Wei et al .: Precise in vivo genome editing via single homology arm donor mediated intron-targeting gene integration for genetic disease correction, in Cell Research (query: 26.08.2019 ), Cell Research
  • A novel technology for genome-editing a broad range of mutations in live organisms, Salk Institute for Biological Studies, Salk Institute for Biological Studies

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