A drug for Huntington's disease has been found

Ksenia Malysheva, Naked Science

Every year, Huntington's disease develops in several thousand people. It begins with mood swings and depression, later control over movements is lost, then dementia develops; paralysis occurs in the later stages. There is no cure for this disease, and too little is still known about its pathogenesis: for example, the function of the protein whose mutation in the gene causes the development of the disease has not yet been established. The disease usually manifests itself at the age of 30-45 years. Patients with Huntington's disease have to live for years knowing what the end will be; the disease is covered in popular culture, for example, in the TV series "Dr. House".

In the mutant HTT gene, the CAG codon (triplet of nucleotides) in the HTT gene is multiplied many times; this codon is repeated many times in the non-mutant form of the gene; the disease develops when the number of repeats exceeds 36. As a result of the expression of the mutant gene, its toxic form mHtt is synthesized instead of the normal huntingtin Htt protein.

A new drug Ionis-HTTRx, which was tested by Sarah Tabrizi and her colleagues from the Huntington's Disease Research Center at University College London, is a signaling molecule that prevents the synthesis of a mutant protein on the ribosome. The drug is delivered by epidural injection.

The first phase of the clinical trial involved 46 men and women from the UK, Germany and Canada with Huntington's disease in the early stages of development. Three-quarters of the volunteers received four injections of the drug at monthly intervals; the rest received a placebo. Immediately after the first injection, the concentration of mHtt in the cerebrospinal fluid dropped sharply. The higher the dose of the drug, the more noticeable was the drop in the concentration of toxic protein. The latter fact gives reason to believe that the production of mHtt was falling due to the action of the drug. No side effects were observed.

The number of patients participating in the study was too small to make final conclusions and move on to the second phase, so the Swiss pharmacological company Roche, which sponsors the development, plans to launch a new, larger study. Tabrizi hopes that it will be as successful as the first one. "If the drug works as we think, Huntington's disease can be treated even before the first symptoms appear; in the best case, patients will need a three- to four–month course of treatment, and the disease will be defeated," she says.

The results of the clinical trial are reported by The Guardian newspaper, the article is being prepared for publication in a peer-reviewed journal in 2018.

Portal "Eternal youth" http://vechnayamolodost.ru