Учёные обнаружили высокую предрасположенность якутов к эпилепсии и деменции

Ученые Северо-Восточного федерального университета выяснили, что каждый 100-й якут является носителем мутации в гене, приводящей к развитию серьезного нейродегенеративного заболевания, при этом среди русской этнической группы такой предрасположенности не выявлено.

Генетики предлагают проводить дополнительные ДНК-исследования для жителей Якутии, передает ТАСС со ссылкой на министерство науки и высшего образования РФ.

«Генетики учебно-научной лаборатории „Геномная медицина“ Северо-Восточного федерального университета пришли к выводу, что нейрональный липофусциноз шестого типа является частым заболеванием (среди населения Якутии), и говорят о необходимости его выявления в отягощенных семьях, а также включении в репродуктивный молекулярный пренатальный скрининг», — говорится в сообщении.

Нейрональный цероидный липофусциноз (НЦЛ) шестого типа — тяжелое нейродегенеративное заболевание, которое проявляется в возрасте 2-4 лет. Среди его симптомов, в частности, эпилепсия, частичная или полная потеря координации движений (атаксия), регресс психологического развития, деменция, нарушение зрения. В настоящее время нет эффективного лечения этого заболевания. Кроме того, у ученых не было достаточных данных о его распространенности.

Впервые НЦЛ шестого типа ученые СВФУ диагностировали в 2016 году. Затем на базе медико-генетического центра республиканской больницы № 1 — Национального центра медицины провели исследование, в частности, по выявлению мутации, которая приводит к развитию этого заболевания, а также по разработке методов его ДНК-диагностики. В настоящее время выявлены 15 больных из 12 неродственных семей якутской этнической группы, у которых подтвержден диагноз НЦЛ шестого типа.

Главный научный сотрудник лаборатории «Геномная медицина» Клиники медицинского института СВФУ Надежда Максимова пояснила, что, согласно результатам исследования, распространенность НЦЛ шестого типа среди якутов составила 2,4 случая на 100 тыс. населения. Для сравнения: распространенность всех типов НЦЛ в мире колеблется от 0,56 до 13,6 на 100 тыс. населения. Кроме того, исследователи выявили среди якутов довольно высокий уровень числа носителей мутации, вызывающей это заболевание.

«То есть каждый 100-й якут является носителем данной мутации. Среди выборки русской этнической группы мутация в гене не выявлена, что позволяет говорить о специфичности данной мутации именно для якутской этнической группы», — сказала Максимова, слова которой приводятся в сообщении.

18:18, 27.07.2019 г. — VestiRegion.ru

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