Андрология и генитальная хирургия. 2019; 20: 35-39
Полиморфизм CAG-повторов гена андрогенного рецептора, болезнь Кеннеди и мужское бесплодие
https://doi.org/10.17650/2070-9781-2019-20-2-35-39Аннотация
Генетические нарушения часто становятся причиной развития тяжелых форм патозооспермии и мужского бесплодия. Полиморфизм числа CAG-повторов в экзоне 1 гена андрогенного рецептора (AR) ассоциирован с нарушением сперматогенеза и снижением мужской фертильности. Экспансия тринуклеотидных повторов ДНК вызывает ряд прогрессирующих нейродегенеративных генетических заболеваний, в том числе бульбоспинальную амиотрофию — болезнь Кеннеди. Данное нервно-мышечное заболевание вызвано увеличением количества CAG-повторов гена AR и характеризуется эндокринными нарушениями, атрофией тестикул, гипогонадизмом, гинекомастией, олигозооспермией или азооспермией. В статье представлены современные сведения о гене AR, кодируемом им белке и его функции, болезни Кеннеди, а также о влиянии количества CAG-повторов гена на репродуктивную систему и фертильность у мужчин.
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Andrology and Genital Surgery. 2019; 20: 35-39
CAG repeats polymorphism of androgen receptor gene, Kennedy’s disease and male infertility
https://doi.org/10.17650/2070-9781-2019-20-2-35-39Abstract
Genetic factors are a common cause of severe pathozoospermia and male infertility. An increase in the length of trinucleotide repeats causes a number of progressive neurodegenerative diseases, including spinal bulbar muscular atrophy — Kennedy syndrome. This neuromuscular disease is caused by the CAG repeats expansion in the androgen receptor gene (AR) and is characterized by endocrine disorders, testicular atrophy, hypogonadism, gynecomastia, and infertility due to azoospermia or oligozoospermia. Variation in the number of CAG repeats of the AR gene may be associated with impaired spermatogenesis and male fertility. The article presents current information about the androgen receptor gene, protein encoded by it and its function, Kennedy syndrome and the effect of the number of AR gene CAG repeats on the male reproductive system and fertility.
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