Huntington's disease and retrotransposons
Deadly Brain Disease Linked to Jumping Genes
Italian scientists have found that the suppression of retrotransposons is associated with two main signs of Huntington's disease — a severe hereditary disorder of the nervous system that leads to brain atrophy and death. The results of the study are published in the journal Frontiers in Cellular Neuroscience (Floreani et al., Analysis of LINE1 Retrotransposons in Huntington's Disease).
Retrotransposons, or mobile genetic elements (also called jumping genes), are sections of DNA capable of self-reproduction within the genome. Since Huntington's disease is caused by repeats of the CAG nucleotide triplet in the HTT gene (usually greater than 35) encoding the huntingtin protein, it is believed that retrotransposon activation is also associated with the disease. At the same time, there is evidence that genetic elements play an important role in neurogenesis, DNA repair, sleep and memory formation.
The researchers analyzed publicly available RNA sequencing data in a mouse model of Huntington's disease and showed that a decrease in the expression of Line-1 retrotransposon RNA is associated with two main signs of the disease: the length of CAG repeats and the death of neurons in the striatum of the brain. These results were confirmed in mice with HTT gene knockout and in the study of the brain of a deceased person. The results show that increased levels of L-1 can prevent the progression of the disease.
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