However,
Reactivation silent genes offers hope:
Researchers led by UC Davis Health Scientist Sanchita Bhatnagar have developed promising gene therapy that could treat RETT syndrome. Consequently, Therapy works on the reactivation of healthy but silent genes responsible for this rare disorder. However, perhaps other conditions related to X, such as fragile X syndrome.
Their results were published in Nature communications.
About Rett syndrome – Reactivation silent genes offers hope
Rett syndrome is a genetic condition that mainly affects girls. Meanwhile, It is caused by a defective MECP2 gene located on the X chromosome. Nevertheless, This gene contains instructions for the synthesis of the MECP2 protein.
Girls with Rett syndrome may have too little from this protein or their protein may not work properly. For example, This protein deficiency can cause a range of symptoms, including speech loss, altered hand movements, breathing reactivation silent genes offers hope difficulties and convulsions.
Genes reduced in silence
Females have two chromosomes X (XX). In addition, In each cell, an X chromosome will be randomly in a process known as the XCI chromosome inactivation (XCI). Meanwhile, In girls with Rett syndrome, the silence chromosome has a healthy copy of MECP2.
Our study examined the reactivation of the silent X chromosome carrying the healthy gene. Moreover, He has shown that reactivation of the gene is possible and can reverse the symptoms. Consequently, “”
Sanchita Bhatnagar, main author of the study
Bhatnagar is an associate professor in the Department of Microbiology and Medical Immunology at UC Davis and heads the Bhatnagar laboratory. Therefore, She is assistant leader of the research program at the UC Davis understanding Cancer Center. researcher at the Mind Institute.
Molecules of the sponge type to overcome reactivation silent genes offers hope microrna sineapping power
The new study carried out genome scale to identify small RNA molecules (microarn) involved in the siles of genes linked to XCI. X. It found that the Microarn-106A (MIR-106A) was active to deactivate the X chromosomes and the MECP2 gene.
The team tested if the MIR-106A blockage could weaken the effect of silence. “wake up” the healthy health gene. For this. they used a model of female Mouse of Rett syndrome and a vector of gene therapy developed by Professor Kathrin Meyer at the Nationwide Children’s Hospital. The vector delivered a special DNA molecule which acts as a “sponge” by attracting the MIR-106A. The molecule reduces the availability of the MIR-106A at the level of the X chromosome. which provides a therapeutic window for the activation of genes and the production of MECP2.
Impressive results
The results were very impressive: treated mice lived reactivation silent genes offers hope longer. showed better movement and better cognition than unrealized mice. The study has also shown a significant improvement in respiratory irregularities in treated mice.
“The sick cell holds its own remedy. With our technology. we simply make him aware of his ability to replace the defective gene with a functional gene, “said Bhatnagar. “Even a small amount of this gene expression (activation) has a therapeutic advantage. »»
Above all, the Rett Mouse model has managed the treatment.
“Our approach based on gene therapy targeting the sileting of chromosome X has shown a significant improvement in several Symptoms of Rett syndrome. Additionally, ” said Bhatnagar. “Girls with Rett have a wide range of symptoms, limited mobility and communication skills. They have apnea and convulsions. It would be changed with life if we can help to reverse some of their symptoms so that they can speak if they are hungry. walk for reactivation silent genes offers hope a drink. What if we can prevent these convulsions and these episodes of apnea, or simply reduce them? »»
Rett syndrome still has no remedy. For families affected by Rett syndrome. this discovery gives a certain hope that a treatment could one day change their life. This approach could also operate for similar conditions caused by X -linked genes.
Before going to clinical trials. researchers must conduct security studies to further assess the power of treatment and the right dose.
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