Abstract
Genetic factors (chromosomal aberrations and point mutations) are the cause of infertility in 10–15 % of men with impaired fertility. Homogeneous structural and functional defects in the sperm or the total terato-, asthenozoospermia – rare cases of genetically determined male infertility, are autosomal recessive diseases. Currently, described 4 types of «syndromic» spermopatology. 1. Primary ciliary dyskinesia (PCD) in men with total asthenozoospermia. Affects axoneme structures (microtubules, dynein arms, radial spokes). It identified more than 20 chromosomal loci responsible for the development of the PCD. 2. Dysplasia of the fibrous sheath of sperm tail in men with asthenozoospermia. The shortened and thickened sperm tail observed with disorganization of vertical columns and cross ribs of the fibrous sheath. Candidate genes – genes family ACAP. 3. Globozoospermia in men with teratozoospermia characterized by the presence of sperm with round heads, primary lack of acrosome and disorganization middle part of the flagellum. Found mutations or deletions of genes SPATA16, PICK1 and DPY19L2. 4. Syndrome decapitated spermatozoa in men with teratozoospermia (microcephaly). Abnormalities in the spermiogenesis development of connecting part jf the tail and proximal (morphologically normal) centrioles. In 2012–2014 years we have studied the ultrastructure of 2267 semen samples of men with impaired fertility. Globozoospermia revealed in 7 patients, dysplasia of the fibrous sheath – 13, decapitated sperm – in one. PCD was revealed in 4 patients (lack of axoneme dynein arms was found in 1 patient, absence of axoneme radial spokes – in 3 patients. The problem of genetically determined patozoospermya must be taken into account when the assisted reproductive technologies practises. There are few cases of successful assisted reproductive technologies with sperm of these patients. We don»t know the etiological factors of syndromic spermopatologe, so we cannot determine the degree of genetic risk.
Highlights
Genetic factors are the cause of infertility in 10–15 % of men with impaired fertility
It identified more than 20 chromosomal loci responsible for the development of the Primary ciliary dyskinesia (PCD). 2
The shortened and thickened sperm tail observed with disorganization of vertical columns and cross ribs of the fibrous sheath
Summary
При ПЦД поражаются структуры аксонемы ресничек и жгутиков (микротрубочки, динеиновые ручки) Мейоз Chlamydomonas происходит в зиготе непосредст- У пациентов, гомозиготных по мутациям этих генов, венно после оплодотворения и большую часть жизнен- наблюдается полный набор симптомов ПЦД – бронного цикла она существует в гаплоидном состоянии, холегочные заболевания, изменения симметрии внучто облегчает исследование генов, кодирующих белки тренних органов, неподвижность сперматозоидов. Кодирующие белки аксонемы, выявленные щему две тяжелые цепи динеина внутренних динеинопри изучении Chlamydomonas, являются кандидатными вых ручек, выявлено снижение подвижности спермадля ПЦД. Последствия применения интрацитоплазматиче- слоя в качестве цитоскелета, возможно, он служит ской инъекции сперматозоида (ИКСИ) при ПЦД пра- каркасом, центром организации множества сигнальктически неизвестны в силу редкости как самого забо- ных и метаболических путей, необходимых для норлевания, так и успешного рождения детей после мального функционирования жгутика [29].
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