medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2018.12.44-51medgen-611Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHМиотонические дистрофии 1 и 2 типа: 15-летний опыт ДНК-диагностики в ФГБНУ МГНЦ ФАНО РоссииMyotonic dystrophies 1 and 2: fifteen years of experience of DNA diagnostics at FSBI RCMGЗабненковаВ. В.ZabnenkovaV. V.V_Zabnenkova@dnalab.ruГалееваН. М.GaleevaN. M.noemail@neicon.ruЧухроваА. Л.ChukhrovaA. L.noemail@neicon.ruРуденскаяГ. Е.RudenskayaG. E.noemail@neicon.ruПоляковА. В.PolyakovA. V.noemail@neicon.ruФГБНУ Медико-генетический научный центрРоссияFederal State Budgetary Institution Research Centre for Medical GeneticsRussian Federation20180112201817124451Copyright © Забненкова В.В., Галеева Н.М., Чухрова А.Л., Руденская Г.Е., Поляков А.В., 20182018Забненкова В.В., Галеева Н.М., Чухрова А.Л., Руденская Г.Е., Поляков А.В.Zabnenkova V.V., Galeeva N.M., Chukhrova A.L., Rudenskaya G.E., Polyakov A.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/611

Миотоническая дистрофия (МД) - самая частая форма мышечных дистрофий среди взрослых, характеризующаяся прогрессирующей миопатией, миотонией, мультиорганным вовлечением. Выделяют две формы - МД 1 и 2 типа. Оба заболевания наследуются аутосомно-доминантно и являются болезнями экспансии. МД1 обусловлена увеличением числа повторов CTG в 3’-нетранслируемой области гена DMPK на хромосоме 19, МД2 - увеличением числа повторов CCTG в интроне 1 гена ZNF9 на хромосоме 3. Для МД1 характерен феномен антиципации, для МД2 - нет. В последнее время активно проводится поиск факторов, модифицирующих течение заболевания. В настоящем исследовании проанализирована выборка больных с диагнозом «миотоническая дистрофия», диагностированных в лаборатории ДНК-диагностики ФГБНУ МГНЦ в период с 2002 по начало 2018 года. Выявлены тенденции влияния пола на тяжесть течения заболевания. Установлена доля МД2 среди российских больных. Она составила 17%. Ранее считалось, что эта форма очень редка.

Myotonic dystrophy (MD) is a common form of muscular dystrophy in adults with autosomal dominant inheritance, characterized by progressive myopathy, myotonia, multiorgan involvement. There are two types of the disease: myotonic dystrophies 1 and 2. Both types are repeat expansion diseases. MD1 is caused by an increase CTG-repeats in the 3’-untranslated region of the DMPK gene on chromosome 19, MD2 - by an increase of CCTG-repeats in intron 1 of the ZNF9 gene on chromosome 3. The phenomenon of anticipation is described for myotonic dystrophy type 1 but not for MD2. Modifying factors are being searched actively in recent years. A sample of FSBI RCMG patients with clinical diagnosis «myotonic dystrophy» was analyzed in this study. Tendencies of the influence of gender as a modifier of the disease severity have been revealed. The proportion of MD2 in the myotonic dystrophies among Russian patients has been established as 17%. Earlier it was supposed that this form might be very rare.

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The authors declare that there are no conflicts of interest present.