biologyscienceТимирязевский биологический журналTimiryazev Biological Journal2949-4710ФГБОУ ВО РГАУ-МСХА имени К.А. Тимирязева (ФГБОУ ВО РГАУ-МСХА имени К.А. Тимирязева)10.26897/2949-4710-2026-4-1-3-01biologyscience-329Research Article3 - ГЕНЕТИКА, БИОТЕХНОЛОГИЯ, БИОХИМИЯ3 - GENETICS, BIOTECHNOLOGY, BIOCHEMISTRYСиндром ранней мышечной слабости голштинского скота: молекулярные механизмы, эпидемиология и стратегии контроляEarly-onset muscle weakness syndrome in Holstein cattle: molecular mechanisms, epidemiology, and control strategieshttps://orcid.org/0000-0001-6169-3953АлтуховаНаталья СергеевнаAltukhovaNatalia S.

Наталья Сергеевна Алтухова, кандидат сельскохозяйственных наук, доцент, доцент кафедры разведения, генетики и биотехнологии животных

Natalia S. Altukhova, CSc (Ag), Associate Professor, Associate Professor at the Department of Animal Breeding, Genetics and Biotechnology

n.altukhova@rgau-msha.ruПодвальноваДарья СергеевнаPodvalnovaDaria S.

Дарья Сергеевна Подвальнова, обучающийся кафедры разведения, генетики и биотехнологии животных

Daria S. Podvalnova, master student of the Department of Animal Breeding, Genetics and Biotechnology

d.podvalnova@oaohcr.ruРоссийский государственный аграрный университет – МСХА имени К.А. ТимирязеваРоссияRussian State Agrarian University – Moscow Timiryazev Agricultural AcademyRussian Federation20261105202641301301Copyright © Алтухова Н.С., Подвальнова Д.С., 20262026Алтухова Н.С., Подвальнова Д.С.Altukhova N.S., Podvalnova D.S.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.bioscience-journal.com/jour/article/view/329

Синдром ранней мышечной слабости (Early-onset muscle weakness syndrome, MW) – рецессивное генетическое заболевание голштинского скота, ассоциированное с миссенс-мутацией p.Gly1029Ser в гене CACNA1S. Включение данной аномалии в перечень обязательных к тестированию генетических дефектов отражает ее значимость для современного племенного скотоводства. Цель исследований – систематизация данных о молекулярных механизмах, эпидемиологии, клинической диагностике и стратегиях контроля заболевания. Проанализированы публикации 2015-2025 гг. из баз данных PubMed, Google Scholar, eLibrary и OMIA. Установлено, что частота носительства мутации варьирует от 3 до 38% в зависимости от региона и методики оценки, достигая максимальных значений в популяциях США и отдельных субъектах Российской Федерации. Неполная пенетрантность мутации осложняет клиническую диагностику и требует обязательного применения молекулярно-генетических методов. Рассмотрены экономические последствия распространения заболевания: прямые убытки от падежа гомозиготных телят и косвенные издержки, связанные с ограничением использования ценных производителей, носителей заболевания. Обоснована необходимость интеграции управления генетическими дефектами в системе геномной селекции включая обязательное генотипирование племенного поголовья, исключение спариваний носителей и контроль уровня инбридинга. Полученные данные могут служить основой для разработки национальных программ наследственных аномалий в молочном скотоводстве.

Early-onset muscle weakness syndrome (MW) is a recessive genetic disorder in Holstein cattle associated with the missense mutation p.Gly1029Ser in the CACNA1S gene. The inclusion of this anomaly in the list of mandatory genetic defects for testing underscores its significance for modern dairy cattle breeding. The aim of this review is to systematize data on the molecular mechanisms, epidemiology, clinical diagnosis, and control strategies for MW. Publications from 2015 to 2025 indexed in PubMed, Google Scholar, eLibrary, and OMIA databases were analyzed. It was found that the carrier frequency of the mutation varies from 3% to 38%, depending on the region and assessment methodology, reaching maximum values in US populations and certain regions of the Russian Federation. The incomplete penetrance of the mutation complicates clinical diagnosis and necessitates the mandatory use of molecular genetic methods. The economic impact of MW spread is discussed, including direct losses from mortality of homozygous calves and indirect costs associated with restricted use of valuable carrier sires. The study substantiates the need to integrate genetic defect management into genomic selection systems, including mandatory genotyping of breeding stock, avoidance of carrier-to-carrier matings, and inbreeding control. The obtained data can serve as a basis for developing national programs for controlling hereditary anomalies in dairy cattle breeding.

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