Genetic alteration could correct THIS class of diseases

A US scientific team has successfully corrected genetic mutations that cause an ultra-rare disease in mice by editing DNA directly in the brain with a single injection, an achievement with "profound implications" for patients with neurological diseases.

The details are published in the journal Cell . The authors note that the technique not only corrected the mutations that cause alternating hemiplegia of infancy, but also reduced symptoms and prolonged survival in mice that were otherwise at risk of sudden death.

The years-long work, led by The Jackson Laboratory's (JAX) Rare Disease Center, the Broad Institute, and the nonprofit RARE Hope, offers "a powerful glimpse into the potential" of personalized gene editing for neurological conditions. JAX neuroscientist Markus Terrey explains:

“Five years ago, people would have thought that entering the brain of a living organism and correcting DNA was science fiction. Today we know it's possible.”

He adds: "Doing this directly in the brain of a living organism is scientifically fascinating. You can go in, correct the mutation, and have the cells remain corrected for the rest of their lives."

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Alternating hemiplegia of childhood (AHC) usually begins during childhood and causes sudden episodes of paralysis that can last minutes or even days. It may be accompanied by dystonia—or muscle rigidity—and developmental delays.

Seizures are a major and potentially life-threatening component of the disease, which currently has no cure. Although existing treatments help control symptoms, their effectiveness is limited. For this study, the team tested two cutting-edge techniques and found that so-called "prime editing"—which edits DNA letters—was more applicable.

The vast majority of AIH cases are caused by mutations in the ATP1A3 gene, which is essential for brain cell function, explain separate notes from the Jackson Laboratory and the Broad Institute.

The researchers set out to simultaneously develop treatments that could correct five ATP1A3 mutations, including the four most common, a scale that has rarely been attempted in therapeutic gene editing research—most treatments are designed to correct one mutation at a time.

They first tested the strategy in cultured patient cells, showing that they could successfully repair mutations in up to 90% of treated cells, and then in animals.

Without treatment, the mice developed seizures, movement problems, and died prematurely. When the scientists injected their editing system into the mice's brains, their symptoms disappeared or were substantially reduced, and they survived more than twice as long as untreated animals.

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In addition, the function of the ATP1A3 protein was restored and their motor and cognitive deficits were improved. The treatments were delivered via a single injection into the brain. It consisted of a harmless virus called AAV9, which is commonly used as a delivery vehicle in another gene editing system, based on CRISPR.

This was done shortly after birth, allowing gene editing tools to reach large numbers of neurons early in life.

The main goal now is to see if treatment can be achieved after symptoms appear. "If we can demonstrate benefits at that point, that would be a new level, a huge step forward," says Cathleen Lutz.

"This study is an important milestone for quality editing and one of the most exciting examples of therapeutic gene editing from our team," said David Liu, whose lab developed the technique in 2019. "It opens the door to one day being able to repair the underlying genetic causes of many neurological disorders that have long been considered untreatable."

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