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From the heroic epos olonkho to hypothesis. Investigations of the time of origin of spinocerebellar ataxia type 1 in Eastern Siberia.

Dmitrii Tikhonov, Fedor Platonov, Agafiya Zakharova, Mikhail Vinokurov, Tatiana Neustroeva, Sergey Semenov, Lev Goldfarb, Neil Renwick


Aim of study: Identify the primary focus of the outbreak SCA 1 and find out the possible reasons for its accumulation among the indigenous peoples ofEastern Siberia.

Materials and methods: We analyzed the folklore of the indigenous population ofNortheast Siberia – Sakha. These results were compared with studies of the level of ATX1 alleles in local outbreak foci of the disease. In this study, we analyzed the results of sequencing the nucleotide sites of the CAG-repeat tandem of the Ataxin1 gene among 52 patients with SCA1 and 18 healthy individuals.

Results. Studying the folklore material, we noticed the presence of a large number of references to heroes - Bogatyrs, whose disease vaguely resembles ataxia. The obtained data of genetic studies on SCA foci 1 confirm the folklore data on the origin of the primary outbreak of the disease in the middle reaches of theLenaRiver. We found that one CAT interruption of CAG repeat of ATX1 gene occurs in about 2/3 of the Sakha population (frequency 0.723). A high level of accumulation of one CAT interruption indicates about adaptive selection.

Conclusion: Perhaps the mutation in the Ataxin 1 gene inEastern Siberia occurred independently. Based on our research, we hypothesized that the indigenous population of the North-Eastern Siberia occurred selective selection of alleles of Ataxin1 gene with one CAT interruption that may be due to the formation of adaptive "stayer" type in the region, characterized by resistance to a long and moderately severe exposure of environmental factors.


ATX 1, CAG repeat, CAT break, Heroic Epos, SCA1.

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