The Molecular Basis of Multiple Morphological Abnormalities of Sperm Flagella and Its Impact on Clinical Practice

被引:1
|
作者
Zhou, Yujie [1 ]
Yu, Songyan [1 ]
Zhang, Wenyong [2 ]
机构
[1] Southern Univ Sci & Technol, Sch Med, Shenzhen 518055, Peoples R China
[2] Southern Univ Sci & Technol, Key Univ Lab Metab & Hlth Guangdong, Shenzhen 518055, Peoples R China
关键词
MMAF; rare disease; infertility; ICSI; molecular mechanism; sperm motility; PRIMARY CILIARY DYSKINESIA; COMPOUND HETEROZYGOUS VARIANTS; CAUSE MALE-INFERTILITY; MITOCHONDRIAL SHEATH; MUTATIONS; ASTHENOTERATOZOOSPERMIA; ASTHENOZOOSPERMIA; DEFECTS; PROTEIN; ASTHENOTERATOSPERMIA;
D O I
10.3390/genes15101315
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Multiple morphological abnormalities of the sperm flagella (MMAF) is a specific form of severe flagellar or ciliary deficiency syndrome. MMAF is characterized by primary infertility with abnormal morphology in the flagella of spermatozoa, presenting with short, absent, bent, coiled, and irregular flagella. As a rare disease first named in 2014, studies in recent years have shed light on the molecular defects of MMAF that comprise the structure and biological function of the sperm flagella. Understanding the molecular genetics of MMAF may provide opportunities for the development of diagnostic and therapeutic strategies for this rare disease. This review aims to summarize current studies regarding the molecular pathogenesis of MMAF and describe strategies of genetic counseling, clinical diagnosis, and therapy for MMAF.
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页数:25
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