A cure for Huntington's chorea?
Scientists have eliminated DNA repeats associated with Huntington's disease in mice
Polina Gershberg, Naked Science
Huntington's disease, also called chorea, is an autosomal dominant disease of the nervous system. It usually manifests itself after the age of 30 and is characterized by mental disorders and pathological involuntary movements. Morphologically, the disease is manifested by atrophy of the striatum (the structure of the brain that regulates muscle tone), and in the later stages – the cerebral cortex.
A man with Huntington's disease / © Genetic Literature Project.
The genetic cause of this disease is the multiple multiplication of one of the codons (a sequence of three nucleotides in DNA) in the gene encoding the huntingtin protein. The longer the total length of such repetitions, the earlier the symptoms of chorea will begin to appear, and the disease will progress faster.
A slice of the brain of a healthy person (above) and the brain of a person with Huntington's disease (below) / © Semantic Scholar.
In an article published in Nature Genetics (Nakamori et al., A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contracts in vivo), an international team of scientists from Canada and Japan described a way to eliminate the mutation underlying Huntington's chorea in model mice. Researchers have discovered a compound that targets mutant DNA regions and leads to reversion of abnormalities without visible side effects.
A substance called naphthyridine-azaquinolone is able to recognize areas of nucleic acid with multiplicated codons and reverse the mutation. Scientists have managed to reduce the length of defective DNA sections in mice with Huntington's disease, as well as in the culture of cells isolated from people with this disease. An important fact was that the compound is highly specific to the gene encoding huntingtin and does not negatively affect other genes.
The work carried out by scientists may be the key to finding an effective remedy for Huntington's chorea. Today, this disease is incurable: there are only means to relieve symptoms. The life expectancy after the manifestation of the first signs is 15-20 years; often patients with Huntington's chorea commit suicide.
"Until now, we only dreamed of finding such a connection," rejoices one of the authors of the work, Christopher Pearson. "Our discovery points to a new way in which Huntington's disease and other similar diseases, such as myotonic dystrophy, can be treated."
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