Rett Syndrome Video
Working to reverse Rett Syndrome Rett Syndrome.Posted by Angela M.
Holmes on Nov 19, AM. With a shared passion for facilitating research and discovery, Addgene and RSRT have consolidated and centralized a collection of molecular biology Rett Syndrome so that both veteran and new Rett researchers can find the reagents and resources they need to cure Rett Syndrome.
Caused by a mutation in the methyl-CpG binding protein 2 MECP2 gene, Rett Syndrome is a rare, progressive, neurodevelopmental genetic disorder that affects primarily girls. After a period of seemingly normal development through ages 6 to 18 months, individuals with Rett syndrome experience regression of previously acquired skills such as speech, Rett Syndrome, purposeful use of hands, and walking.
They may exhibit slow head growth, develop seizures, cardio-respiratory dysfunction, distinctive Rett Syndrome movements, and show autistic-like behaviors. Rett Syndrome was first described in by Austrian physician, Andreas Rett, who tried to raise awareness and published his observations in a German medical journal. Decades later and after years Rett Syndrome painstaking work trying to isolate the causative gene for Rett Syndrome, Huda Zoghbi 's lab discovered the first disease-causing mutations in the MECP2 gene leading to Rett Syndrome Amir et al. Studies have suggested roles in transcriptional repression, activity dependent de-repression, chromatin remodeling, gene activation, and more.
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They accomplished this using Cre-Lox mouse models in which the endogenous MECP2 gene was disrupted and silenced by a Lox-Stop cassette, resulting source Rett Syndrome neurological deficits observed in Rett Syndrome. Restoring the MECP2 gene by excision of the Stop cassette using tamoxifen-inducible Cre not only halted the neurological damage but Rett Syndrome reversed it, regardless of age or symptom severity. This exciting finding injected hope that a similar reversal may be possible for children and adults with Rett Syndrome. Mutations that affect this interaction to varying degrees determine the clinical severity of different MECP2 mutations.
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More recently, the Bird lab found that only a portion of the MECP2 protein is necessary to rescue the neurological defects of Rett syndrome Tillotson et al. One of the main challenges facing Rett researchers is how to deliver the precise amount of protein to each brain cell to restore physiological levels.
Much research is now focused on therapeutic Rett Syndrome that use gene replacement therapy, gene editing, MECP2 reactivation, RNA editing, RNA trans-splicing, and protein replacement to reverse the impacts of this disease. As a non-degenerative, monogenic disease that has shown reversibility of symptoms Syndroem animal Rett Syndrome, Rett syndrome is a strong translational candidate for gene replacement therapy.
Leveraging their combined technical expertise to develop a viable therapeutic, the researchers developed adeno-associated viral AAV vectors for the targeted delivery of a functional MECP2 gene in preclinical animal studies with positive results Sinnett et al.]
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